# disease info

info:
What are they?
Acidosis and alkalosis are terms used to describe the abnormal conditions when a patient’s blood pH may not fall within the healthy range. Measuring the pH of blood is a way of finding out how acidic or alkaline the blood is. Normal blood pH must be within a narrow range of 7.35-7.45 so that the body’s metabolic processes can work properly and can deliver of the right amount of oxygen to tissues. Many diseases or and other conditions can cause a patient’s blood pH to fall outside of these healthy limits.

In the human body, normal metabolism generates large quantities of acids that must be removed to keep a normal pH balance. Disruption of this balance can be caused by a build-up of acid or Alkali (base) or by an increased loss of acid or base (see the diagram of ‘taps and drains’ below). Acidosis occurs when blood pH falls below 7.35. Alkalosis occurs when blood pH rises above 7.45. Both of these conditions act as an alarm to the body; they trigger actions intended to restore the balance and to return the blood pH to its normal range.

The major organs involved in regulating blood pH are the lungs and the kidneys. The lungs flush acid out of the body by exhaling carbon dioxide (CO2). Within physical limits, the body can raise and lower the rate of breathing to alter the amount of carbon dioxide that is breathed out. This can affect blood pH within seconds to minutes. The kidneys remove some acids in the urine and the kidneys also produce and regulate the retention of bicarbonate (HCO3-), a base that increases the blood’s pH. Changes in bicarbonate concentration occur more slowly than changes in carbon dioxide, taking hours or days. Often, both of these processes proceed at the same time, continuing until the balance is restored or until the body’s ability to compensate is exhausted or overwhelmed. Diseases affecting either the lungs or the kidneys as well as other metabolic conditions can interfere with the regulation of blood pH.


Figure 1: Taps and Drains 

The blood’s pH must remain between 7.35 and 7.45.

The body tries to have a constant balance between incoming/produced acids and bases (faucet on) and removal of acids and bases (drain open).

Imbalances of the flow from the ‘taps’ and removal through the ‘drains’ lead to acidosis (acid sink overflow) or alkalosis (base sink overflow).

Balance can be restored by increasing removal (faster flow through the ‘drain’) and/or by decreasing flow in (slowing the flow through the ‘tap’).


Acidosis or alkalosis can be an acute condition (develops quickly) or it may be a long-term chronic condition. Acidosis may not cause any symptoms or it may be associated with symptoms such as tiredness, feeling sick or vomiting. Acute acidosis may also cause an increased rate and depth of breathing, confusion, and headaches, and it can lead to fits, coma, and in some cases death. Symptoms of alkalosis are often due to potassium (K+) loss and may include irritability, weakness, and cramping.

Acid-base disorders are divided into two broad categories. Those that affect breathing and cause changes in carbon dioxide concentration are called respiratory acidosis (low pH) or respiratory alkalosis (high pH). Respiratory acid-base disorders are commonly due to lung diseases or conditions that affect normal breathing. Disorders that affect bicarbonate concentration are called metabolic acidosis (low pH) and metabolic alkalosis (high pH). Metabolic acid-base disorders may be due to kidney disease and a variety of other conditions. There are known genetic abnormalities that result in the impairment of normal metabolic pathways and so can cause acid-base imbalance, usually acidosis. These are called inborn errors of metabolism (or genetic-metabolic disorders) and the acid-base effect is due to deficiencies or build-ups of compounds, many of which are acidic in nature. Other disorders that can cause metabolic (non-respiratory) acid-base disorders include diabetes (diabetic ketoacidosis), severe vomiting and severe diarrhoea.



                                        
                                        
    
        
            
                

                

                
                    <a title=``

Sym:
Common causes of acid-bases disorders

Respiratory acidosis
Reduced carbon dioxide removal 


Decreased breathing (due to drugs or to central nervous system disorders)
 Slow breathing
 Lung disease Respiratory muscle/nerve disease (myasthaenia gravis, botulism, amyotrophic lateral sclerosis, Guillain-Barre syndrome)




Respiratory alkalosis
Increased carbon dioxide removal


Fast Breathing (due to anxiety, pain, shock)
 Severe infection or fever
 Liver failure
 Pneumonia, pulmonary congestion or embolism




Metabolic acidosis 
Decreased bicarbonate, due to loss or to increased acid 


Alcoholic ketoacidosis
 Diabetic ketoacidosis
 Kidney failure
 Lactic acidosis
 Toxins – overdose of salicylates (aspirin), methanol, ethylene glycol, toluene
 Gastrointestinal bicarbonate loss, such as from prolonged diarrhoea




Metabolic alkalosis
Increased bicarbonate, due to gain, or to loss of acid


Diuretics
 Prolonged vomiting
 Severe dehydration





                                        
                                        
    
        
            
                
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Tests:
Tests

 Testing is used to identify whether a patient has an acid-base disorder, to determine how severe the disorder is, and to help diagnose underlying diseases such as diabetic ketoacidosis or the poisoning, that can cause acid-base disorders. Testing is also done to monitor critically ill patients, as well as patients with long term diseases of acid-base balance, such as chronic lung disease and kidney disease. The primary tests used to identify, evaluate, and monitor acid-base disorders are blood gases and electrolytes.

Blood gases are a group of tests performed together on an arterial blood sample (blood obtained from an artery instead of a vein). They are a snapshot of the blood’s pH, the amount of oxygen dissolved in the blood (PO2), and the amount of carbon dioxide dissolved in the blood (PCO2). Using these results the amount of bicarbonate in the blood (HCO3-) can be calculated.

Results seen:

Acid-Base Disorder pH HCO3- PCO2 Body Compensation
Metabolic acidosis
Less than 7.35
Low
Low
Increased breathing rate (hyperventilation) to increase CO2 elimination
Metabolic alkalosis
Greater than 7.45
High
High
Slowed breathing (hypoventilation) to decrease CO2 elimination
Respiratory acidosis
Less than 7.35
High
High
Kidney increases production of HCO3- and excretion of acid
Respiratory alkalosis
Greater than 7.45
Low
Low
Kidney decreases production of HCO3- and excretion of acid
Electrolytes refers to a group of four tests: Na+ (sodium), K+ (potassium), Cl- (chloride) and bicarbonate (total carbon dioxide content).

An anion gap can be calculated from the electrolytes and provides a clue to the cause of the acid/base imbalance.

Depending on the suspected cause, a number of other tests may be requested: Renal profile, glucose ketones in blood and ketones in urine, lactate, aspirin (salicylate), ethylene glycol, and methanol, to name a few.



                                        
                                        
    
        
            
                
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What is it?
Acromegaly is the name given to a condition caused by the body producing too much growth hormone (GH). The excess GH usually (about 95% of cases) comes from a tumour in the pituitary gland. It is a fairly rare disease with about 50 cases per million in the population. The increased amount of GH also leads to increased formation of another hormone, insulin-like growth factor (IGF-1).

These two hormones have a number of effects on the body most being due to an increase in size of tissue or organs.

The other 5% of cases of excess growth hormone and acromegaly are caused by growth hormone-releasing hormone (GHRH) or GH being produced in tumours elsewhere in the body.



                                        
                                        
    
        
            
                

                

                
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Sym:
Signs and symptoms
In most cases the symptoms of acromegaly develop very slowly and it may take some time (several months) for them to be noticed.

The external signs include:

Enlarged hands, making difficult or impossible to remove rings on fingers

Enlarged feet which can mean an increase in shoe size

Thickening of the lips

Enlarged, thickened nose

Increased size of the tongue

Increase in size of the bony ridges over the eyes

Changes in the jaw making it difficult to bite normally

Deepening of the voice


Other changes include:

Increase in size of the heart, thyroid, liver and spleen

Carpal tunnel syndrome. This is caused by an increase in the tissues of the wrist that press on the nerves and cause tingling and pins and needles in the fingers.

Bone and joint pain


Although patients may go to the doctor because of changes to face, hands or feet, often it is other symptoms, such as menstrual disturbance in women, headaches and carpal tunnel syndrome, which lead the patient to see their doctor.

Headaches are caused by the tumour increasing in size and pressing on the base of the brain.

There is a threefold increase in the risk of death in patients with acromegaly. Death may result from heart disease, respiratory disorders, diabetes and malignancy. Therefore effective treatment is essential.



                                        
                                        
    
        
            
                
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Tests:
Tests
IGF-1 measured in the blood is the test of choice and will be raised in a patient with acromegaly.

An MRI scan of the pituitary will be carried out in patients with symptoms of acromegaly and a raised IGF-1. This is to identify the tumour in the pituitary and to assess its size.



                                        
                                        
    
        
            
                
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info:
What is it?
Addison’s disease is also known as primary hypoadrenalism. It occurs when the adrenal glands stop producing sufficient amounts of the hormones cortisol and aldosterone. The adrenal glands are small organs that lie on top of the kidneys. The adrenal glands, together with the hypothalamus and pituitary glands in the brain, control many systems in the body. Disruption of this hormonal system can cause severe illness.

Addison’s disease is a rare condition affecting between 1-4 people per 100,000. It affects males and females of all ages. However, in general it affects women more commonly than men. Most of the adrenal gland (as much as 90%) is often destroyed before symptoms appear. When diagnosed it can be easily treated but without treatment the patient may die. 

There are a number of causes of Addison’s disease:

In the Western world the most common cause (about 75%) is when the body starts to produce antibodies that attack the adrenal gland. Usually it is the outer part of the adrenal gland, the adrenal cortex that is affected. This means that the adrenal produces little or no steroid hormones like cortisol and aldosterone. Sometimes other hormone producing glands, most commonly the thyroid gland, are affected as well.

The

Sym:
Signs and symptoms
Often the disease changes very slowly and can be difficult to diagnose because the symptoms such as tiredness, loss of energy, weight loss and nausea are very common. One very distinctive feature is the presence of darkening (pigmentation) of some areas of the skin. This darkening occurs on areas like the hands that are exposed to sun but also in the lining of the mouth, the lines or creases on the inside of the hands and any recent scars.

The most common symptoms are:

Weakness

Tiredness

Not eating

Nausea

Weight loss

Darkened skin

Low blood pressure, particularly on standing up (called postural or orthostatic hypotension), causing dizziness and fainting.


Addisonian crisis 
 This is when symptoms are severe and appear suddenly. The patient has very low blood pressure (hypotension), feels sick (nausea), vomits, has tummy (abdominal) pain and often fever without obvious cause. This is a dangerous situation and treatment with cortisol must be given immediately after taking a blood sample. Addisonian crisis can occur if there is a haemorrhage (bleed) in the adrenal glands or it can be triggered by a stressful event, including trauma, surgery or infection.



                                        
                                        
    
        
            
                
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Tests:
Tests
A patient presenting with non-specific symptoms, such as tiredness and nausea, will have a blood sample taken for a general biochemical and haematological screen plus some hormone tests.

 Cortisol  may be requested when Addison’s disease is suspected but this alone may be unhelpful. If the cortisol result is inappropriately low it suggests adrenal failure. Cortisol can then be measured as part of a stimulation test to clarify the diagnosis.

 ACTH  (Adrenocorticotrophic Hormone) may be requested in Addison`s disease where the concentration of this hormone in the bloodstream are usually high. In such patients a synacthen test (stimulation test) should be carried out.

Synacthen is a drug which has the actions of ACTH , the hormone produced by the pituitary gland. Synacthen is given to stimulate the adrenal glands to produce cortisol.    A blood sample is taken to measure the unstimulated (before the synacthen is given) cortisol concentration and sometimes aldosterone and plasma renin activity. Synacthen is then given by injection.  After 30 minutes another blood sample is taken to see if cortisol and aldosterone levels have increased. A further sample at 60 minutes is sometimes also taken (usually in children). In Addison’s disease cortisol and aldosterone levels do not increase following the administration of synacthen.

Plasma renin is a substance in the blood that stimulates aldosterone release from the adrenal and will be high in patients with Addison’s disease.

 Electrolytes  (e.g. sodium, potassium) are routinely measured and a low sodium and high potassium concentration together with hypotension is suggestive of adrenal hypofunction.

Glucose ,  urea  and  creatinine are measured to examine glucose levels (‘blood sugar’), kidney function and hydration status.  Along with the measurement of electrolytes, these are used to monitor the response to treatment.

Adrenal antibodies are sometimes requested as part of the diagnostic process when autoimmune Addison’s disease is suspected. A positive result is helpful in the diagnosis of autoimmune Addison`s disease but many patients with this form of the disease have a negative result.

Non-laboratory tests

X-rays may be used to see if the adrenal glands have accumulated any calcium deposits that can occur with a tuberculosis infection.

CT (computerised tomography) or MRI (magnetic resonance imaging) scans, are used to look at the size and shape of the adrenal glands and the pituitary. The adrenal glands can be enlarged with infections and cancers. With autoimmune diseases the adrenal glands are often normal or small in size



                                        
                                        
    
        
            
                
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What is HIV?
HIV (human immunodeficiency virus) is the virus that causes AIDS (acquired immunodeficiency syndrome). By killing or damaging cells of your body`s immune system, HIV progressively destroys your body`s ability to fight infections and certain cancers. People diagnosed with AIDS may get life-threatening diseases called opportunistic infections, which are caused by microbes such as viruses or bacteria that usually do not make healthy people sick.

How is HIV transmitted? 

HIV is spread most commonly in these ways:

By having sex with an infected partner. The virus can enter the body through the lining of the vagina, vulva, penis, rectum, or mouth during sex. 

Through contact with infected blood. Before blood was screened for evidence of HIV infection and before heat-treating techniques were introduced to destroy HIV in blood products, such as factor 8 and albumin, HIV was transmitted through transfusions of contaminated blood or blood components. Today, because of blood screening and heat treatment of blood derivatives, the risk of getting HIV from such transfusions is extremely small. 

By sharing needles or syringes (such as during injection drug use), which can be contaminated with very small quantities of blood from someone infected with the virus. It is rare, however, for a patient to give HIV to a health care worker or vice-versa from contaminated needles or other medical instruments. 

During pregnancy or birth. Approximately one-quarter to one-third of all untreated pregnant women infected with HIV will pass the infection to their babies. HIV also can be spread to babies through the breast milk of mothers infected with the virus. If the mother takes the drug AZT during pregnancy, she can significantly reduce the chances that her baby will be infected with HIV. If doctors treat mothers with AZT and deliver their babies by caesarean section, the chances of the baby being infected can be reduced to a rate of one percent. 

Having a sexually transmitted disease such as syphilis, genital herpes, chlamydia, gonorrhoea, or bacterial vaginosis, which appears to make people more susceptible to and at higher risk for acquiring HIV infection during sex with infected partners. 




                                        
                                        
    
        
            
                

                

                
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Sym:
What tests are used to diagnose and monitor HIV?
There are several types of tests associated with HIV disease. Some test for antibodies that the body makes in response to the virus, some test for the concentration of a protein (called p24) found in the virus, some test for the actual number of copies of the virus per milliliter of blood (called viral load testing), some test for levels of immune cells called CD4 cells that are attacked by HIV, and some test for whether patients are resistant to anti-HIV drugs.

Antibody testing—to diagnose HIV infection. 

p24 protein testing—may be used to detect early HIV infection, to monitor HIV therapy and HIV progression, and to screen blood for HIV. 

Viral load testing—to decide when to start therapy and to monitor therapy and HIV progression. 

CD4 testing—to decide when to start therapy and to monitor therapy, HIV progression, and the status of the immune system. 

Genotypic resistance testing—to determine if a particular strain of HIV is resistant to the therapy you are on and if the therapy should be switched. 


When are these tests requested?

One or more of these tests are ordered after a person is exposed to HIV and decides to be tested, either at the doctor`s surgery or a local clinic. Several of the tests listed above are then requested at intervals by a doctor to monitor the course of therapy.



                                        
                                        
    
        
            
                
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What are the early symptoms of HIV?
Many people do not develop any symptoms when they first become infected with HIV. Some people, however, have a flu-like illness within a month or two after exposure to the virus. This illness may include fever, headache, fatigue, and enlarged lymph nodes (organs of the immune system easily felt in the neck and groin). These symptoms usually disappear within a week to a month and are often mistaken for those of another viral infection. During this period, people are very infectious, and HIV is present in large quantities in genital fluids.

More persistent or severe symptoms may not surface for a decade or more after HIV first enters the body in adults, or within two years in children born with HIV infection. This period of ``asymptomatic`` infection is highly individual. Some people may have symptoms in a few months, while others may be symptom-free for more than 10 years. During the asymptomatic period, however, the virus is actively multiplying, infecting, and killing immune system cells.

The effect of HIV is most obvious in the decline in the blood levels of your CD4 T cells (also called T4 cells), the immune system`s key infection fighters. At the beginning of its life in the human body, the virus disables or destroys these cells without causing symptoms.

As the immune system deteriorates, a variety of complications occur. For many people, their first sign of infection is large lymph nodes or “swollen glands” that may be enlarged for more than three months. Other symptoms often experienced months to years before the onset of AIDS include:

lack of energy 

weight loss 

frequent fevers and sweats 

persistent or frequent yeast infections (oral or vaginal) 

persistent skin rashes or flaky skin 

pelvic inflammatory disease (PID) in women that does not respond to treatment; or 

short-term memory loss.


Some people develop frequent and severe herpes infections that cause mouth, genital, or anal sores, or a painful nerve disease called shingles. Children may grow slowly or be sick a lot.



                                        
                                        
    
        
            
                
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What is it?
Alcoholism is a condition resulting from excessive drinking of beverages that contain alcohol. Alcoholism, also known as alcohol dependence, is a disease that includes the following four symptoms: 

Physical dependence--withdrawal symptoms, such as nausea, sweating, shakiness, and anxiety after stopping drinking 

Tolerance--the need to drink greater amounts of alcohol to get ``high`` 

Craving--a strong need, or urge, to drink 

Loss of control--Not being able to stop drinking once drinking has begun 

Heavy drinking is widespread. According to the Office of National Statistics (2013), 34% of men and 28% of women drink above the recommended number of weekly units for sensible drinking, placing themselves at increased risk of future health or social problems, while one in 10 men in the UK and one in 20 UK women show signs of alcohol dependence - twice as many as are dependent on all forms of drugs, including prescription drugs. 

The major health risks of alcoholism include liver disease, heart disease, certain forms of cancer, pancreatitis, and nervous system disorders. These conditions often develop gradually and may only become evident after long-term heavy drinking. Women also tend to develop health problems before men. The liver is particularly vulnerable to diseases related to heavy drinking, most commonly alcoholic hepatitis (inflammation) or cirrhosis (scarring of the liver). 

Experts have defined a second problem, called alcohol abuse, as something different from alcoholism. The difference is that those who abuse alcohol do not have an extremely strong craving for alcohol, loss of control over drinking, or physical dependence. People who abuse alcohol can also develop the physical symptoms related to alcoholism, however. Alcohol abuse is defined as a pattern of drinking that results in particular situations, such as failure to fulfil work, school or home duties, or having recurring alcohol-related legal problems, such as arrests for driving under the influence of alcohol.



                                        
                                        
    
        
            
                

                

                
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Testing for Alcoholism
Laboratory tests can help diagnose a case of alcoholism but no single laboratory test or combination of tests has been shown to be ideal for screening or diagnosis. There are, however, some tests that are useful in evaluating patients:

Gamma-glutamyl transferase (GGT)), a liver enzyme that is increased by heavy alcohol intake but also by other forms of liver disease

Mean corpuscular volume (MCV), a measure of the size of red blood cells, which is increased by prolonged heavy drinking.

Alanine aminotransferase (ALT) and Aspartate aminotransferase (AST), enzymes that can indicate liver damage, which is often related to alcohol use

Carbohydrate-deficient form of transferrin (CDT), a molecule involved in iron transport in blood. CDT is elevated in the blood of heavy drinkers but raised levels can also be found in a number of medical conditions. It is not useful as a screening test for alcohol abuse but may be useful in detecting those who have relapsed.

A blood alcohol level (ethanol test) can be used to determine if a person has been drinking alcohol recently but does not diagnose alcoholism. 


The GGT result is more useful than the MCV result as a “red flag” to raise the suspicion that the person is drinking too much. Both of these tests are relatively poor for screening or as diagnostic tests because conditions other than alcohol abuse or alcoholism can cause elevated levels within the bloodstream.

Physical examination also may reveal signs suggestive of alcoholism, such as evidence of injuries, a visible network of enlarged veins just under the skin around the navel (called caput medusae), fluid in the abdomen (ascites), yellowish-tone to the skin, decreased testicular size in men, and poor nutritional status.



                                        
                                        
    
        
            
                
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Treatment for Alcoholism
Throughout the UK, specialist alcohol services are provided by the NHS, the private sector and through voluntary organisations. Some individuals will only need or want to learn to reduce or control their drinking while others will need to abstain from alcohol use. Alcohol services offer a wide range of interventions and treatments including brief interventions, motivational interviews, counselling, detoxification services and self help groups. Detoxification (alcohol withdrawal) can be provided in a number of settings including hospital wards, NHS alcohol treatment units, and residential services.

A variety of drugs can be used to treat alcoholism. Benzodiazepines (Valium or similar drugs) are sometimes used during the first days after drinking stops to help a patient safely withdraw from alcohol. These drugs are not used beyond the first few days, however, because they may be very addictive.

There are three oral medications that have been approved by the National Institute for Health and Care Excellence (NICE) to help people remain sober: disulfiram, naltrexone, and acamprosate. They are prescribed for those who have indicated their intention to abstain from alcohol but require some reinforcement. Disulfiram causes unpleasant symptoms such as nausea, vomiting, and flushing with any amount of drinking. Naltrexone blocks the ``high`` feeling a person may get from drinking but can cause severe withdrawal symptoms in people who are also dependent on opiates. Acamprosate helps reduce the craving for alcohol.

Just as there is no individual test for screening or diagnosing alcoholism, there is not one single drug that effectively treats alcoholism. In other words, no single drug is available that works in every case because body chemistries are slightly different and reasons for drinking are also different. Developing new and more effective drugs to treat alcoholism is a high priority for researchers.



                                        
                                        
    
        
            
                
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What are they?
Allergies (also known as ‘hypersensitivities’) are overreactions of the immune system to substances that do not cause reactions in most people. Hypersensitivities are grouped into four types, I, II, III and IV. These classifications are based on what parts of the immune system are activated and how long it takes for a reaction to occur. 
The two types of hypersensitivities commonly associated with the term ’allergies’are type I or ‘immediate’ hypersensitivities, and type IV or ‘delayed’ hypersentivities.

In type I hypersensitivity, a particular foreign substance (known as an `allergen`) reacts with a specific type of antibody called immunoglobulin E (IgE) – this reaction causes symptoms to appear within minutes. In type IV hypersensitivity, the allergen reacts with a specialised type of cell called a T-lymphocyte. In this case symptoms take hours to days to appear.

Type I hypersensitivities affect mainly the respiratory system (nose, throat, lungs), the gastrointestinal system (stomach, intestines, bowel) and the skin. They occur most frequently in those with a family history of allergies (although not always to the same substance). The first time a predisposed person is exposed to a potential allergen, they will not have a major reaction; instead, they will create a specific IgE antibody and become `sensitised`.

If that person is then exposed to the allergen again, the specific IgE identifies the allergen, attaches to it, and triggers the release of chemicals, including histamine, that cause allergic symptoms. These symptoms start wherever the allergen was introduced (for example in the mouth, nose or on the skin).

On the skin, an acute type I allergic reaction can cause a urticarial rash, dermatitis, and itching, while in the long term the allergy may cause atopic dermatitis and eczema. In the respiratory tract, the acute allergic reaction causes coughing, nasal congestion, sneezing, throat tightness, and, in the long term asthma. It can also cause red itchy eyes. Acute allergic reactions in the gastrointestinal system start in the mouth with tingling, itching, a metallic taste, and swelling of the tongue and throat, followed by abdominal pain, muscle spasms, vomiting and diarrhoea, over time leading to a variety of gastrointestinal problems.

Any severe acute allergic reaction also has the potential to be life threatening, causing anaphylaxis, a reaction spread throughout the entire body that can start with agitation, a `feeling of impending doom` pale skin (due to low blood pressure), and/or loss of consciousness (fainting). Anaphylaxis can be fatal without the rapid administration of an adrenaline injection.

Type I allergic reactions can be variable in severity, one time causing a rash, the

Sym:
What is not an allergy?
There are other reactions that can cause allergy-like symptoms but are not caused by an activation of the immune system. They range from toxic reactions that affect anyone who has sufficient exposure, such as food poisoning caused by bacterial toxins, to genetic conditions, such as intolerances caused by the lack of an enzyme (for example, the inability to digest milk sugar, resulting in lactose intolerance) and sensitivities to things like gluten (in coeliac disease). Symptoms can also be caused by medications such as aspirin and ampicillin, food dyes, MSG (monosodium glutamate – a food flavour additive), and by some psychological triggers. While these diseases and conditions may need to be investigated by your doctor, they are not allergies and will not be identified during allergy testing.



                                        
                                        
    
        
            
                
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Tests:
Tests
The diagnosis of an allergy starts with a careful review of the patient’s symptoms, family history, and personal history, including: the age of onset, seasonal symptoms, and those that appear after exposure to animals, hay, or dust, or that develop in specific environments (e.g. home and work). Other environmental and life style factors such as pollutants, smoking, exercise, alcohol, drugs, and stress may make the symptoms worse and should be taken into consideration. Once the list of possible allergens has been narrowed, specific testing can be done.

Skin prick or scratch tests are usually done in an allergy clinic. Liquid drops of individual allergen extracts are put onto the skin (often the back) and then a small needle is used to prick or scratch through the drop into the skin. A positive test results in a small raised bump about the size of an insect bite. Reactions usually take place within 20 minutes. Skin prick tests are often used to detect airborne allergies such as pollens, dust, and moulds. Because of the potential for a severe reaction, skin prick tests are not usually used for food allergies.

If the skin prick test is negative, there is a 95% chance that you do not have an allergy to that substance. Positives are more problematic; only about 50% of those who have a positive result are actually allergic to that substance. The diagnosis of allergy will depend on whether you symptoms match up with the allergens you test positive for.

You must not have significant eczema or be taking antihistamines or certain antidepressants for several days before the skin prick test. The test must be done by a trained healthcare professional.

Allergen specific IgE testing or RAST (RadioAllergoSorbent Test), as it is known, is a laboratory test that is used to screen for allergen-specific IgE antibodies. It is often recommended when skin prick testing is not possible or when a severe allergic reaction might be anticipated. Allergen-specific IgE antibody testing involves taking a blood sample and checking for each allergen suspected. Allergens may be selected one at a time or by choosing panels such as food panels, which contain the most common adult or child food allergens, and regional weed and grass panels, which contain the most common airborne allergens in the location where the patient lives. Individual selections are very specific, for example: bumble bee versus honeybee, or egg white versus egg yolk. Your doctor will help you select the most appropriate allergens; usually a patient will only be truly allergic to a few substances (4 or less).

If a specific IgE test is negative, then chances are that you are not allergic to that substance, but a positive test must be evaluated alongside your clinical symptoms. You can have a low level and still have a severe reaction to actual exposure to the allergen or an elevated level and never experience a reaction. People who outgrow a food allergy may continue to have positive IgE test result to the food for many years.

Total IgE testing is sometimes done to look for an ongoing allergic process. It is a blood test that detects the presence of IgE protein (including allergy antibodies) but does not identify specific allergens. Conditions besides allergies can also cause it to rise.

Oral food challenges are considered the `gold standard` for diagnosing food allergies. They require close medical supervision because reactions can be severe (life threatening anaphylaxis). Food challenges involve giving you small amounts of unmarked potential food allergens (either in a capsule or injected directly into your bloodstream) and watching for allergic reactions. Negatives are confirmed with larger meal-sized portions of food.

Elimination is another way to test for food allergies: eliminating all suspected foods from the diet, then reintroducing them one at a time to find out which one(s) are causing the problem.

Patch testing. Delayed hypersensitivity patch tests are the easiest methods of testing for `delayed` allergies (for example allergies to rubber or nickel). A concentration of the suspected allergen is applied to the skin under a nonabsorbent adhesive patch and left for 48 hours. If burning or itching develops more rapidly, the patch is removed. A positive test consists of redness with some hardening and swelling of the skin, and, sometimes, vesicle (blister-like) formation. Some reactions will not appear until after the patches are removed, so the test sites are also checked at 72 and 96 hours.

Other tests not widely accepted as useful by the British Society for Allergy and Clinical Immunology include:

VEGA testing (the measurement of disordered electromagnetic currents in the body)

Provocation-neutralization (`Miller technique`)

Hair analysis

Applied kinesiology 

Auriculo-cardiac pulse tests

Leucocytotoxic tests (‘Nutron’ and ‘ALCAT’ tests)




                                        
                                        
    
        
            
                
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info:
What is it?
Alzheimer`s Disease (AD) is an irreversible form of dementia characterized by memory loss, a progressive decline in intellectual ability, deteriorating language and speech skills, and by personality and behavioral changes that eventually interfere with daily living. According to the Alzheimer`s Society, the number of people with dementia in the UK is currently about 700,000, 1.1% of the population, and it predicts that this will grow to over a million by by 2025. Approximately 62% of those with dementia will have Alzheimer’s disease which is the most common form of dementia.

Although AD mimics some changes found in the brain as we age, it is not a normal part of the aging process. It causes nerve cell injury and death and is characterized by the build-up of senile plaques and neurofibrillary tangles (twisted protein fragments that clog nerve cells) in the brain. The destruction of nerve cells also decreases levels of acetylcholine and other neurotransmitters (chemicals necessary for communication between nerve cells) in the brain. Over time, AD results in decreased interaction between different areas of the brain.

Relationship with Aging 
The risk of having AD and other dementias increases greatly with age. About 10% to 12% of the population will have dementia by the time they are 65 years old, with the risk increasing to 50% for those who reach the age of 100. Most of the time AD is “late onset,” beginning after the age of 65, and sporadic (does not seem to be family-related). ``Early onset`` AD, starting before the age of 65, is more rare and more likely to be family-related. (It accounts for about 5% to 10% of all AD cases).

Genetic Relationship
Alzheimer`s Disease appears to be caused by a variety of factors; although many of the factors are not yet well understood, some have a genetic component. We know that there are a few rare cases, associated with early onset Alzheimer`s disease, where there is a clear genetic inheritance within specific families. These are families where members inherit genetic faults on chromosomes 21, 14 or 1. In these cases half of the children of the person with Alzheimer`s are likely to have the genetic defect. All those who inherit the gene will go on to develop Alzheimer`s.

Another gene, ApoE, has been associated with an increased susceptibility to late onset AD. This gene directs the production of apolipoprotein E, a protein that forms part of the body’s lipoproteins (such as HDL cholesterol) and is involved in lipid transportation and clearing dietary fats from the body. The ApoE gene normally exists in three forms: e2, e3, and e4. Everyone has two copies of the ApoE gene, in some combination of the three forms. ApoE e4 has been associated with an increased risk of AD.

There is a higher incidence of Alzheimer’s Disease in those with Down`s Syndrome and in families who have siblings and/or parents with AD and/or several generations of family members with AD. Researchers have been aware of a connection between Down`s syndrome and Alzheimer`s disease since the 1940s. People with Down`s syndrome, who inherit an extra copy of chromosome 21, develop the same `plaques` and `tangles` in their brains as people with Alzheimer`s disease.



                                        
                                        
    
        
            
                

                

                
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Sym:
Tests
There are no laboratory tests available that will positively diagnose Alzheimer’s Disease. Currently, the only definite diagnosis of AD is to microscopically examine a section of the patient’s brain tissue after death. Pathologists look for senile plaques and neurofibrillary tangles characteristic of AD. Since plaque and tangle formation is also seen in normal aging, the sample must be compared to a control sample (normal, non-AD brain tissue) from a person the same age as the patient.

However, doctors currently use a variety of tests and procedures to rule out other causes for dementia, such as anaemia, infection, disorders of the thyroid gland, vitamin B12 deficiency, before diagnosing patients with ``possible AD`` (meaning that the dementia could be due to another cause, such as a stroke). A hallmark of Alzheimer`s Disease is that it’s appearance is a subtle, progressive decline in function. If the onset of the patient’s problems is abrupt or happened in a step-wise fashion, then the cause is most likely something other than AD.

When a patient presents with symptoms of dementia, the doctor will evaluate his or her personal and family history (preferably of several generations); perform a physical examination; determine the age of onset, and give the patient neuropsychological tests to measure his or her memory, language skills, and other cognitive functions. In some cases, computed tomography (CT) or magnetic resonance imaging (MRI) scans may be used to look for evidence of trauma, tumours or stroke that could be causing dementia and to look for brain atrophy (shrinkage, usually only seen later in the Alzheimer`s Disease progression).



                                        
                                        
    
        
            
                
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Tests:
Treatments
There is currently no prevention or cure for Alzheimer’s Disease. Patients may live with AD for 1 to 25 years, but the average is 8 to 10 years. Treatment consists of attempting to slow the progression of the disease, easing symptoms, managing behavioural issues, and providing the patient and carers with support and education. Early in the disease, those with AD may be able to live fairly normal lives with small amounts of assistance, such as memory aids and a structured environment. This is the time when the patient can make plans and participate in decisions about their future care.

Early diagnosis of AD may allow some people to receive moderate benefit from cholinesterase inhibitors, drugs that preserve intellectual functions by preserving the function of acetylcholine (a neurotransmitter in the brain that allows nerves and parts of the brain to communicate with each other), such as galantamine (``Reminyl``), donepezil (``Aricept``) and rivastigmine (``Exelon``). Whenever possible, the patient’s other drugs will be evaluated, and those that may worsen confusion, such as central nervous system depressants, antihistamines, sleeping pills, and analgesics may be stopped.

Throughout the progression of AD, antidepressants and other drugs may also be used in small quantities, along with environmental modification (making the home environment safer and more familiar), to moderate personality and behavioural issues such as depression, agitation, paranoia, and violence, and to make the patient more comfortable.

While current research into the protective and therapeutic influences of substances, such as nonsteroidal anti-inflammatory drugs (NSAIDs), oestrogen, and antioxidants like Vitamin E, is promising, these agents cannot yet be recommended. They each carry their own associated risks and side effects. Further studies are needed to determine their actual effectiveness and long-term safety.



                                        
                                        
    
        
            
                
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What is it?
Amenorrhoea is the term for the lack of menstrual function in women. This means that the woman experiences no menstrual bleeds and will be infertile. Amenorrhoea may be primary amenorrhoea or secondary amenorrhoea.

Primary amenorrhoea is when the woman has never had a menstrual cycle or menstrual bleed. It occurs in about 3 in 1000 women.

Secondary amenorrhoea is when a woman has had menstrual periods in the past but these have now stopped. This occurs in about 3 in 100 women. The previous menstrual activity may have been quite brief but has shown that the woman’s hormones were once functioning in a relatively normal way.

Menstrual function depends on a number of factors that the clinician has to consider. These include:

Genetic factors

Weight

Diet

Health, including exercise and stress

Drugs

Activity of hormones from the brain and ovary

Structure of the reproductive tracts

Endocrine disease e.g. thyroid hormone disorder

A long-term illness


Sometimes the cause of amenorrhoea may be straightforward such the effect of certain drugs or due to intensive exercise. Even another chronic illness can cause amenorrhoea. In other cases the cause is not immediately obvious and may require extensive investigation.



                                        
                                        
    
        
            
                

                

                
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Sym:
Tests
The investigation of amenorrhoea in women can be quite complex and tests depend on what the doctor finds out about you at your first visit.

Initially the doctor will ask you about your menstrual function since puberty, your life style and your sexual activity. They will want to know about any other condition you may be suffering from and what drugs you are on.

 They will probably carry out a physical examination and want to take a blood sample. The blood sample is usually for the measurement of hormones such as chorionic gonadotrophin (hCG), luteinising hormone (LH), follicle stimulating hormone (FSH) and prolactin. Other hormones which may be measured are thyroid hormones, testosterone and oestradiol. But blood analysis depends on what the doctor finds out from you and what he suspects may be the cause of your amenorrhoea.

 Other, later tests may include ultrasound scanning of the ovaries and possibly a scan of the head, genetic investigation and further blood tests.

Treatment

Treatment depends on the cause of the amenorrhoea.



                                        
                                        
    
        
            
                
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Overview
Anaemia is a disease that occurs when the number of red blood cells (RBCs) and/or the amount of haemoglobin found in the red blood cells falls below normal. Red blood cells and the haemoglobin contained within them are necessary for moving oxygen from the lungs to the rest of the body. Without an adequate supply of oxygen, many parts of the body will not work properly. Anaemia can be mild, moderate or severe depending on how much the RBC count and/or haemoglobin levels have fallen. It is a fairly common condition and affects both men and women of all ages and ethnic groups. Certain people are at an increased risk of developing anaemia. These include people with diets poor in iron and some vitamins, long lasting illnessesa such as kidney disease, diabetes, cancer, inflammatory bowel disease, a family history of inherited anaemia, longstanding infections such as tuberculosis or HIV and those who have had significant blood loss from injury or surgery.

In general, anaemia has two main causes:

Impaired or decreased production of RBCs as can occur in iron deficiency, B vitamin deficiencies or a number of diseases affecting the bone marrow’s ability to make red blood cells.

Decreased survival or increased destruction of red blood cells as can occur in bleeding or haemolysis. There are several different types of anaemia and various causes. Some of the most common types are given in the table below. Click on the links to read more about each one.


 

Type of Anaemia
Description
Examples of Causes
Iron Deficiency
Lack of iron leads to decreased amounts haemoglobin; low levels of haemoglobin in turn leads to decreased production of normal RBCs
Blood loss; diet low in iron; poor absorption of iron
Pernicious Anaemia and B Vitamin Deficiency
Lack of B vitamins does not allow RBCs to grow and then divide as they normally would during development; leads to decreased production of normal RBCs
Lack of intrinsic factor; diet low in B vitamins; decreased absorption of B vitamins with illnesses such as Crohn`s disease or after surgical removal of parts of the bowel
Aplastic
Decreased production of all cells produced by the bone marrow of which RBCs are one type. ``Pure red cell aplasia`` is similar disease where only production of the red blood cells is affected.
Cancer therapy, exposure to toxic substances, autoimmune disorders, viral infections
Haemolytic
RBCs survive less than the normal 120 days in the circulation; leads to a decrease in the numbers of RBCs
Inherited causes include sickle cell and thalassemia; other causes include transfusion reaction, autoimmune disease, certain drugs (penicillin)
Anaemia of Chronic Diseases
Various illnesses over a long time can reduce the production of RBCs
Autoimmune disease such as rheumatoid arthritis, kidney disease, diabetes, longstanding infections including tuberculosis or HIV
Anaemia may be acute or chronic – which means fast-developing or longstanding. Chronic anaemia may develop slowly over a period of time with long-term illnesses such as rheumatoid arthritis, diabetes, chronic kidney disease or cancer. In these situations the anaemia may not be apparent because symptoms are hidden by the main disease. The presence of anaemia in chronic conditions may be missed for a period of time and only discovered from tests or examinations for other conditions.

Anaemia may also occur in acute episodes such as with bleeding or with certain haemolytic anaemias in which the red blood cells are destroyed. Signs and symptoms may develop quickly and the cause found from a physical examination, medical history and testing.

Signs and Symptoms
 Though different types of anaemia have different causes, the signs and symptoms can be very similar. Mild or moderate forms of anaemia may cause few if any symptoms. The most common symptoms are:

a general feeling of tiredness, lack of energy or weakness (fatigue)

breathlessness

pale complexion


Other signs and symptoms that may develop as the anaemia becomes more severe include headache, dizziness, feeling of cold or numbness in hands and/or feet, pale complexion, fast or irregular heartbeat and chest pain. Some patients complain of hearing a pounding sound (their pulse) in their ears.

Laboratory Tests

Full Blood Count (FBC)
 Anaemia may first be detected when a full blood count (FBC) is done as part of a health check or during investigations for another illness. FBC is a routine test that counts the number and relative proportion of each of the different types of cells in your blood. It gives your doctor information about the size, shape, and relative maturity of the blood cells present in your blood at that moment.

Blood Film and Differential
If results of the FBC indicate anaemia, it may be followed up with an examination of a blood film or a differential. Results from these tests may give clues to the cause of the anaemia. Several other tests can help discover the cause of the anaemia and then guide treatment. See the individual discussions of the different types of anaemia for more on these.



                                        
                                        
    
        
            
                

                

                
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Iron Deficiency Anaemia
Iron deficiency anaemia is the most common cause of anaemia. Symptoms are related to the overall decrease in number of red blood cells and/or level of haemoglobin. The most common signs and symptoms include:

feeling of tiredness, fatigue

lack of energy


 Symptoms that are typical of iron deficiency and which may appear as iron stores in the body decrease may include brittle or spoon-shaped nails, swollen or sore tongue, cracks or ulcers at the corners of the mouth (“angular cheilosis”) or a craving to eat unusual non-food substances such as ice or dirt (also known as “pica”).

Iron is an essential trace element and is necessary for the production of healthy red blood cells (RBCs). It is one component of haem, a part of haemoglobin, the protein in RBCs that binds to oxygen and enables RBCs to transport oxygen throughout the body. If not enough iron is absorbed by the body, then iron that is stored in the body will be used up. If iron stores are low then fewer red blood cells are made and they have decreased amounts of haemoglobin in them which results in anaemia.

Some of the causes of iron deficiency include:

Bleeding—if bleeding is excessive or occurs over a period of the time (chronic), the body may not take in enough iron or have enough stored to produce sufficient haemoglobin and/or red blood cells to replace what is lost. In women, iron deficiency may be due to heavy menstrual periods, but in older women and in men, the bleeding is often from disease of the intestines such as ulcers and cancer.

Dietary deficiency—iron deficiency may be due simply to not eating enough iron in the diet. In children and pregnant women especially, the body needs more iron, Pregnant and nursing women frequently develop this deficiency since the baby requires large amounts of iron for growth. Lack of iron can lead to low birth weight babies and premature delivery. Pre-pregnant and pregnant women are routinely given iron supplements to prevent these complications. Babies who are taking milk from anaemic mothers tend to have iron deficiency anaemia as well.

Absorption problem—certain conditions affect the absorption of iron from food in the gastrointestinal (GI) tract and over time can result in anaemia. These include, for example, coeliac disease, Crohn’s disease, lack of acid in the stomach (“achlorhydria”) or previous surgery to remove part of the bowel


Laboratory Tests
 Initial blood tests typically include a full blood count (FBC). Results may show:

Haemoglobin (Hb)—may be normal early in the disease but will fall as the anaemia worsens

Red blood cell indices—early on, the RBCs may have a normal size and color (normocytic, normochromic) but as the anaemia progresses, the RBCs become smaller (microcytic) and paler (hypochromic) than normal. 
Average size of RBCs (MCV)—may be decreased

Average amount of Hb in RBCs (MCHC)—may be decreased

Increased variation in the size of RBCs (red cell distribution width or “RDW”)





 A blood film may reveal RBCs that are smaller and paler than normal as well as RBCs that vary in size (anisocytosis) and occasionally in shape (poikilocytosis). Abnormally shaped red cells may include target cells and pencil cells. The blood film may also give clues to causes of inflammation. For example it might show signs of an underactive spleen, which can be due with coeliac disease, in which iron is sometimes not absorbed well.

If your doctor suspects that your anaemia is due to iron deficiency, they may request several additional tests to confirm the iron deficiency. These may include:

Serum iron—the level of iron in your blood; the result is usually decreased. It is important that patients fast before a serum iron blood test or the result may be misleadingly high.

Total iron-binding capacity (TIBC) or Unbound iron-binding capacity (UIBC)—measurement of the protein (transferrin) that carries iron through the blood will be increased.

Transferrin saturation index (ratio of serum iron to iron binding capacity). A result less than 15% may indicate iron deficiency.

Ferritin—reflects the amount of stored iron in your body and is usually low in anaemia. Ferritin is considered to be the most specific for identifying iron deficiency anaemia, unless infection or inflammation are present


 All blood tests for iron may be influenced by other illnesses or factors and they should be interpreted with caution. Sometimes they clearly indicate iron deficiency, sometimes they are unclear and sometimes they can be misleading and unhelpful.

Rarely, if your doctor is unsure whether or not you have iron deficiency anaemia and wants to be sure, they may even request a bone marrow aspirate to look directly at your iron stores. Absence of iron in a good quality bone marrow sample proves iron deficiency. Bone marrow aspirates are quickly performed and very safe, but uncomfortable and thankfully your doctor will only very rarely request this test.

If the iron deficiency is thought to be due to abnormal blood loss, such as chronic bleeding from the intestine, then other tests and procedures may be performed including a referral for colonoscopy to look and see if blood is being lost into the intesting.

A test for Helicobacter pylori may detect a bacterium that can cause ulcers in the GI tract which may be a cause of chronic bleeding. Blood tests showing antibodies to Helicobacter may be misleading however and examination of the faeces for the bacterium (faecal Helicobacter antigen testing) may be used instead.

If any of these tests are positive or if it is strongly suspected a GI bleed exists, then procedures such as endoscopy or colonoscopy may be done to find the location of the bleeding so that it can be treated.

Treatment of iron deficiency typically involves iron supplements. These are usually given by mouth. In patients intolerant of iron supplements or who can not absorb iron, it can be replaced by using intravenous infusion. If iron-deficiency is suspected to be due to abnormal blood loss, further testing is often required to determine the reason for the bleeding. When the underlying cause is found and treated then the anaemia usually resolves.

Some forms of haemolytic anaemia can lead to iron deficiency.



                                        
                                        
    
        
            
                
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Pernicious anaemia and other B vitamin deficiencies
Vitamin B12 is found only in animal foods including meat, dairy and egg products. Very strict Vegan vegetarians require vitamin B12 supplements to remain healthy.

Pernicious anaemia is a condition in which the body does not make enough of a substance called intrinsic factor. Intrinsic factor is a protein produced by parietal cells in the stomach . It binds to vitamin B12 and allows it to be absorbed from the small intestine. Vitamin B12 is important in the production of red blood cells (RBCs). Without enough intrinsic factor, the body cannot absorb vitamin B12 from the diet and cannot produce enough normal RBCs, leading to anaemia.

Other causes of vitamin B12 deficiency and anaemia include conditions that affect absorption of the vitamin from the small intestine such as surgery, certain drugs, digestive disorders (coeliac disease, Crohn’s disease) and infections.

Vitamin B12 deficiency can result in general symptoms of anaemia as well as nerve problems. These may include:

weakness or tiredness

lack of energy

numbness and tingling that start first in the hands and feet

lemon discolouration of the skin (a combination of anaemia and mild jaundice)


 Additional symptoms may include muscle weakness, slow reflexes, loss of balance and unsteady walking. Severe cases can lead to confusion, memory loss, depression and/or dementia.

Folic acid is another B vitamin and deficiency in this vitamin may also lead to anaemia. Folic acid, also known as folate, is found in many foods, especially in green, leafy vegetables. Some breakfast cereals are fortified with folic acid. Folic acid is needed during pregnancy for normal development of the baby’s brain and spinal cord. It is important for women considering pregnancy to take folate supplements before they get pregnant and during pregnancy to make sure they are not folate deficient. Folate deficiency early in pregnancy can cause problems in the development of the brain and spinal cord of the baby (e.g. “spina bifida”).

Anaemias resulting from vitamin B12 or folate deficiency are sometimes referred to as macrocytic anaemia because red blood cells are larger than normal, or “megaloblastic” due to abnormally large immature red cells in the bone marrow. A lack of these vitamins does not allow RBCs to grow and then divide as they normally would during development which leads to their large size. This leads to a reduced number of abnormally large RBCs and anaemia.

Laboratory Tests
 Symptoms of anaemia will usually be investigated initially with a full blood count (FBC) and differential. In pernicious anaemia or vitamin B12 deficiency, these usually show:

A low haemoglobin level

For red cell indices, the mean corpuscular volume (MCV), which is the average size of RBCs, is often high


A blood film will reveal red blood cells that are abnormally large, abnormally shaped, and sometimes occasional giant white blood cells.

Folic acid deficiency leads to the same pattern of changes in haemoglobin and red cell size as vitamin B12 deficiency.

If the cause of your anaemia is thought to be due to pernicious anaemia or dietary deficiency of B12 or folate, additional tests are usually requested to make the diagnosis. Some of these include:

Vitamin B12 level - blood level may be low when deficient in B12

Folic acid level- blood level may be low if deficient in this B vitamin

Methylmalonic acid (MMA) - may be high with vitamin B deficiency

Homocysteine - may be high with either folate or vitamin B deficiency

Reticulocyte count- is usually low

Antibodies to intrinsic factor or parietal cell antibodies - may be present in pernicious anaemia


Sometimes a bone marrow aspiration may be performed. This may reveal larger than normal sizes in the cells that eventually mature and become RBCs (“megaloblastic” precursors) or giant immature white blood cells.

Treatment in these conditions involves supplementation with the vitamin that is deficient. Vitamin B12 is usually given by injection, typically every 3 months , although tablets can sometimes be given. Treatment of underlying causes such as a digestive disorder or infection may help to resolve the anaemia.

For more on this, see the article on Vitamin B12 and Folate Deficiency



                                        
                                        
    
        
            
                
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Overview
Angina Pectoris is a term for chest pain caused by the heart not getting enough oxygen. This lack of oxygen is also called myocardial ischaemia. Although the arteries supplying the heart may provide enough blood (and therefore oxygen) for daily activities, this may not be possible at high-demand times such as during exercise (even just walking), stress, or extreme temperatures, when the heart beats faster and the body requires more oxygen. The symptoms may disappear when, for example, exercise is stopped. If you suffer from angina you are at increased risk of experiencing a heart attack (acute myocardial infarction or AMI) and should see a doctor right away. There are three main types of angina:

Stable angina is characterised by predictable periods of discomfort that occur during exercise or periods of stress. This pain may be relieved with rest and/or a drug called glyceryl trinitrate (GTN) 

Unstable angina is characterised by sudden and unexpected onset of pain, usually during periods of rest. The pain may be more severe than with typical angina. People with unstable angina are at particularly increased risk for experiencing myocardial infarction (MI), severe cardiac arrhythmia (irregular heartbeat), and cardiac arrest (when the heart stops beating). Unstable angina is an acute emergency and should be treated immediately. 

Variant angina (Prinzmetal’s angina) almost always occurs during periods of rest – usually at night. The cause is a spasm of a coronary artery.


A doctor can identify which type of angina a patient may have based on information obtained from your medical history, and a range of investigations such as electrocardiograms (ECG) and exercise tolerance testing (ETT).

Treatment may include the use of a variety of medications to reduce the frequency and severity of attacks, e.g. beta blockers, nitrates and anticoagulants such as aspirin. Surgical procedures, such as angioplasty or coronary artery bypass grafting (CABG) may be required in some cases.



                                        
                                        
    
        
            
                

                

                
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Tests:
Overview
Angina Pectoris is a term for chest pain caused by the heart not getting enough oxygen. This lack of oxygen is also called myocardial ischaemia. Although the arteries supplying the heart may provide enough blood (and therefore oxygen) for daily activities, this may not be possible at high-demand times such as during exercise (even just walking), stress, or extreme temperatures, when the heart beats faster and the body requires more oxygen. The symptoms may disappear when, for example, exercise is stopped. If you suffer from angina you are at increased risk of experiencing a heart attack (acute myocardial infarction or AMI) and should see a doctor right away. There are three main types of angina:

Stable angina is characterised by predictable periods of discomfort that occur during exercise or periods of stress. This pain may be relieved with rest and/or a drug called glyceryl trinitrate (GTN) 

Unstable angina is characterised by sudden and unexpected onset of pain, usually during periods of rest. The pain may be more severe than with typical angina. People with unstable angina are at particularly increased risk for experiencing myocardial infarction (MI), severe cardiac arrhythmia (irregular heartbeat), and cardiac arrest (when the heart stops beating). Unstable angina is an acute emergency and should be treated immediately. 

Variant angina (Prinzmetal’s angina) almost always occurs during periods of rest – usually at night. The cause is a spasm of a coronary artery.


A doctor can identify which type of angina a patient may have based on information obtained from your medical history, and a range of investigations such as electrocardiograms (ECG) and exercise tolerance testing (ETT).

Treatment may include the use of a variety of medications to reduce the frequency and severity of attacks, e.g. beta blockers, nitrates and anticoagulants such as aspirin. Surgical procedures, such as angioplasty or coronary artery bypass grafting (CABG) may be required in some cases.



                                        
                                        
    
        
            
                

                

                
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Also known as: AS; Rheumatoid Spondylitis


                                                
                                            

What is it?
Ankylosing Spondylitis causes painful inflammation of the spine. Occasionally it can involve other joints or organs. In about 40% of patients the eyes are affected with inflammation called uveitis or iritis.

Currently doctors believe that Ankylosing Spondylitis is caused by an autoimmune reaction. A trigger such as an infection may cause the body to react abnormally leading to inflammation. Over time, inflammation of the ligaments around the bone can lead to new bone growth which can cause separate vertebrae to join together. This can lead to long term lack of mobility.

Ankylosing Spondylitis affects men more than women and is usually diagnosed during the teenage years, twenties, or thirties. Most patients will have a gene called HLA-B27. However being born with this gene doesn’t necessarily lead to Ankylosing Spondylitis and scientists are currently researching the other triggers.



                                        
                                        
    
        
            
                

                

                
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Test
Diagnosis is normally made on signs and symptoms, but doctors may also use laboratory tests and imaging:

CRP – may rise with inflammation

ESR - may rise with inflammation

FBC – to look for excess white cells which might show infection

HLA-B27– In the UK most ankylosing spondylitis patients have this gene

X-rays or other imaging such as MRI – typical changes seen on X-ray are the ‘bamboo sign’ which is due to new bone growth


 



                                        
                                        
    
        
            
                
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Treatments
Physiotherapy and exercise form are vital. They are particularly effective in preventing long term stiffness.

Many patients use NSAIDs (Non-Steroidal Anti-Inflammatory Drugs) which are painkillers similar to ibuprofen or aspirin. Other important treatments include immune suppressants such as methotrexate or sulfasalazine. Newer drugs include Etanercept and Infliximab which act against a protein called TNF (Tumour Necrosis Factor) and bisphosphonates (which are used to prevent bone turnover and in the treatment of osteoporosis).

Stiffness due to Ankylosing Spondylitis is often improved after exercise.



                                        
                                        
    
        
            
                
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Also known as: APS; APLS; Antiphospholipid Antibody Syndrome; Hughes Syndrome; Anticardiolipin Antibody Syndrome; aCL Syndrome; aPL Syndrome; Lupus Anticoagulant Syndrome; ``Sticky Blood Syndrome``


                                                
                                            

What is antiphospholipid syndrome?
Antiphospholipid syndrome (APS) is an autoimmune disorder, meaning that the body`s immune system makes proteins known as antibodies that mistakenly attack its own cells or tissues. The syndrome is associated with risk of inappropriate blood clot formation, so it is considered an excessive clotting disorder (thrombophilia).

Antibodies normally defend the body against infections. But in APS, antibodies attack the lipid-proteins found in the outermost layer of cells (cell membranes) and platelets. These autoantibodies interfere with the blood clotting process in a way that is not fully understood. APS is associated with blood clots (thrombotic episodes), a low number of platelets (thrombocytopenia), and with pregnancy complications such as preeclampsia and recurrent miscarriages.

The primary antiphospholipid antibodies associated with APS include lupus anticoagulant, cardiolipin antibody, and beta-2 glycoprotein I (β2GP1) antibody. Cardiolipin and B2GP1 may be IgG or IgM antibodies. These antibodies increase an affected person`s risk of developing recurrent inappropriate blood clots in both veins and arteries. Individuals with APS may experience one or more thrombotic episodes. Symptoms and complications may range from mild to critical. If blood clots form, they can obstruct blood flow and can damage tissues and organs. If they are carried to the lungs, heart, brain or kidneys, they can cause a pulmonary embolism, heart attack, stroke, and/or kidney damage. A small subset of people with APS may have widespread thrombotic disease with damage to many of the large internal organs of the body, referred to as ``catastrophic`` APS.

Individuals with antiphospholipid antibodies may have APS and another co-existing autoimmune disorder such as lupus (systemic lupus erythematosus or SLE) or may have one or more of the antibodies present with no associated symptoms. Low levels of antiphospholipid antibodies may be associated with HIV, Lyme disease, and some cancers. APS can also be seen in the elderly are often detected and temporarily during infections and with some medications, such as the psychiatric drugs phenothiazines or the antibiotic amoxicillin and the heart rhythm regulator procainamide. 

Antiphospholipid syndrome may affect anyone, but women of child-bearing age or those with another autoimmune disorder are more commonly affected. Having a family member with antiphospholipid syndrome may increase a person`s risk.

Antiphospholipid antibodies are found in 1% to 5% of young, healthy people and up to 10% of the general public. According to the March of Dimes, APS is the most common acquired excessive clotting disorder, affecting up to 5% of pregnant women.



                                        
                                        
    
        
            
                

                

                
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Signs and Symptoms
The symptoms associated with APS will vary from person to person and with each episode of inappropriate blood clot formation (thrombotic episode).

Pregnant women with APS may have recurrent miscarriages, preeclampsia, or premature births but with no distinguishable symptoms.

Symptoms associated with a blood clot depend upon where the clot forms in the body and damage that occurs. Blood clots may form in the veins of the legs (deep vein thrombosis) and may travel to the lungs (pulmonary embolism). Blood clots can also form in arms or leg arteries (peripheral arterial thrombosis), for example. Risk of developing blood clots can increase with pregnancy, immobility, surgery, smoking, oral contraceptives, or high cholesterol.

Examples of APS signs and symptoms include:

Persistent headaches

Stroke

Repeated miscarriages or other pregnancy complications such as preeclampsia

Chest pain

Shortness of breath

Nausea

Speech and/or cognitive changes

Seizures

Memory loss

Redness, swelling, and pain in a leg or arm

A red lacy rash on the arms or legs (livedo reticularis)

Skin ulcers

Mild to severe bleeding (with significant thrombocytopenia, a condition in which the body has a lower than normal amount of platelets, or with concomitant antibodies that target one of the coagulation factors, such as Factor X; people with this condition may have few or no other symptoms.)


Tests

The goals of testing are to diagnose APS and to distinguish it from other causes of symptoms and complications. Not everyone who has antiphospholipid antibodies has symptoms or complications. Therefore, a diagnosis of APS is made based upon both clinical signs and the presence of the autoantibodies. At least one clinical sign and one autoantibody must be present.

The following consensus guidelines are used:

Revised Classification Criteria for the Antiphospholipid Antibody Syndrome*
Clinical criteria
Laboratory criteria
Vascular thrombosis:

One or more confirmed clinical  episodes of a blood clot occurring in an artery, vein or small  blood-vessel in any tissue or organ validated by imaging studies or  tissue biopsy


Pregnancy complications: 

One or more unexplained deaths of a physically normal foetus at or after the 10th week of pregnancy

One or more premature births of a physically normal newborn at or before the 34th week of pregnancy due to preeclampsia, eclampsia, or a placenta that does not function properly

Three or more unexplained consecutive miscarriages before the 10th week of pregnancy


Positive test for one of the autoantibodies on 2 or more occasions at least 12 weeks apart and less than 5 years from clinical symptoms:

Lupus anticoagulant: present, according to the guidelines of the International Society on Thrombosis and Hemostasis

Anticardiolipin antibody: present at a medium or high level(>40 MPL or GPL or greater than the 99th percentile for normal)

Anti-β2GP1antibody: present at a high level, greater than the 99th percentile for normal (as established by the testing laboratory)


*Established in 2006 by the 11th International Congress on Antiphospholipid Antibodies
Laboratory Tests

Blood tests that are used to detect the presence of autoantibodies include:

Lupus anticoagulant testing (e.g., dilute Russell viper venom test or DRVVT and hexagonal phase phospholipid neutralization test)

Cardiolipin antibodies

Beta2 glycoprotein I (β2GP1) antibodies


Other tests may be ordered to evaluate blood clotting and blood cells. They may include:

Partial thromboplastin time (PTT)

Prothrombin time (PT)

Full blood count (FBC), to evaluate blood cells and platelets

A variety of additional tests to evaluate other causes of a person`s symptoms, such as 1:1 Mix study (dilute PTT) to screen for lupus anticoagulant in the blood


Non-Laboratory Tests

Imaging scans may be performed to confirm the presence of and locate a blood clot, to evaluate organ damage, and, during pregnancy, to monitor a foetus. These may include:

CT scan

MRI

Ultrasounds to detect blood clots or to monitor foetal health and growth

Echocardiograph to detect heart valve abnormalities that can occur with APS


Treatment

There is no cure for antiphospholipid syndrome (APS). The goals of treatment are to prevent blood clots from forming, resolve those that do, and to minimise tissue and organ damage. Those who have antiphospholipid antibodies but have never had a thrombotic episode or miscarriage are not typically treated. They may never be diagnosed with APS or have associated symptoms or complications.

Individuals with APS should minimise other factors that increase clotting risk, such as smoking and the use of oral contraceptives. If a person has a co-existing autoimmune disorder, then this condition should be managed as well.

Anticoagulants such as warfarin and heparin are typically used to treat existing blood clots. To prevent recurrence, long-term or indefinite anticoagulation with warfarin or an alternative anticoagulant is often necessary. Aspirin may be used if someone has risks for heart attacks.

Women with APS can have successful pregnancies, but they and their unborn baby must be carefully monitored. Many may be given heparin injections beneath the skin (subcutaneous) and/or low-dose aspirin during pregnancy to help minimize the potential for clotting. Warfarin cannot be used in pregnancy.

For people with ``catastrophic`` APS, a combination of anticoagulant, glucocorticoid, and plasma exchange treatment with or without intravenous immune globulin is required. Additional treatments may be required to address a low number of platelets (thrombocytopenia) and other APS complications.



                                        
                                        
    
        
            
                
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What is it?
Arthritis is a disease characterised by inflammation of one or more joints. This inflammation may be the body’s response to an injury (such as a fracture), an infection (either viral or bacterial), or gradual wear and tear on the joints. Arthritis is also common in the skin disease psoriasis as well as in autoimmune disorders, such as lupus. Symptoms include joint pain, swelling, stiffness, and redness that last more than two weeks. 

There are more than 100 kinds of arthritis, with many different causes. Four of the most common types are:

Osteoarthritis – associated with the aging process and joint deterioration;

Rheumatoid arthritis – an autoimmune disorder;

Juvenile rheumatoid arthritis – attacks younger people and affects joints and organs; and

Gout – a metabolic disorder associated with excess uric acid.


Septic arthritis is a less common type but can cause serious joint damage. 

For information on other types of arthritis, visit the NHS Choices web site.



                                        
                                        
    
        
            
                

                

                
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Tests:
What is it?
Arthritis is a disease characterised by inflammation of one or more joints. This inflammation may be the body’s response to an injury (such as a fracture), an infection (either viral or bacterial), or gradual wear and tear on the joints. Arthritis is also common in the skin disease psoriasis as well as in autoimmune disorders, such as lupus. Symptoms include joint pain, swelling, stiffness, and redness that last more than two weeks. 

There are more than 100 kinds of arthritis, with many different causes. Four of the most common types are:

Osteoarthritis – associated with the aging process and joint deterioration;

Rheumatoid arthritis – an autoimmune disorder;

Juvenile rheumatoid arthritis – attacks younger people and affects joints and organs; and

Gout – a metabolic disorder associated with excess uric acid.


Septic arthritis is a less common type but can cause serious joint damage. 

For information on other types of arthritis, visit the NHS Choices web site.



                                        
                                        
    
        
            
                

                

                
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What is it?
Asthma is a chronic (long term) inflammatory lung disease which leads to constriction (narrowing) of the airways. It is not known why this inflammation develops but asthma tends to be more common in those with a family history of asthma, children whose parents were smokers and also in those with a past history of allergic disorders such as hayfever and eczema. It`s likely therefore that genetic factors combined with certain environmental factors influences whether or not someone develops asthma. According to `Asthma UK`, 1 in 11 children and 1 in 12 adults suffer from asthma in the UK. Asthma can start at any age but most commonly starts in childhood. Asthma is not currently preventable or curable, but it is controllable and most people who have it can lead active and relatively normal lives.

Asthma is a disease of the airways. The airways in our lungs are composed of tubes called bronchi and bronchioles. Bronchi are muscular tubes that carry air throughout the lungs, transporting it to and from smaller airway branches called bronchioles. Asthma affects these smaller tubes (bronchioles) by causing inflammation within the tubes. This causes thewalls of the bronchioles to swell and produce extra fluid (mucus), which narrows the airway and makes it more difficult to breathe. Asthma also causes the muscles around the bronchioles to constrict which in turn narrows the airways further. The combination of these factors can cause a cough, wheeze or shortness of breath which are the main symptoms of asthma.

These symptoms may vary in severity depending on how bad the narrowing in the airways is and how long it lasts for, and asthma affects people to different extents. If the narrowing in the airways is quite severe this may result in an asthma attack where the person finds it quite difficult to breathe as very little air can flow along the airways. The attack may be so severe that the person needs to be admitted to hospital or even be put on a ventilator to help them breathe.  At other times during an attack the airways may be less narrow and the person may have mild symptoms such as a cough or a slight wheeze.

It is thought that there are certain “triggers” which irritate the airways and cause the symptoms of asthma. Everyone`s asthma is different and a person may have several triggers. However a lot of the triggers for asthma are due to people being allergic to particular substances which are called allergens. Asthma attacks can be triggered in these people if they come into contact with these substances. In these patients the airways over-react to allergens in the air such as pollen, pollution, mould, dust mites, animals, particles, and fumes and thiscauses the airways to constrict and become inflamed. Asthma attacks may also be caused by other triggers such as stress, strong emotional responses (laughing, crying, and anger), exercise, viral infections, and cold air. Medicines such as beta-blockers, aspirin and ibuprofen can also trigger attacks. Rarely, sulfites found in wine and dried fruit can cause episodes of asthma in some people. Asthma attacks can occur at any time but are especially frequent at night and in the morning.

Inhalers are used to treat asthma and work by opening up the airways making it easier to breathe. This is usually by relaxing the muscles around the airways so that they open up (usually called a “reliever inhaler” e.g Ventolin). Other inhalers, such as steroid inhalers, work by reducing the inflammation in the airways that caused it to narrow in the first place.  This effect is not immediate however and it takes some time for the inflammation to reduce. Because of this, these sorts of inhalers are usually used regularly to prevent asthma attacks and do not work to relieve an acute attack. Steroid tablets however also work in a similar way, and are often used for a short while together with inhalers in patients who are having a severe exacerbation (worsening) of their asthma. Although the effects are not immediate, they often help to reduce inflammation within a day or so reducing the risk of a severe attack that may require hospitalisation. They can also be used regularly as a preventative treatment in patients with extremely severe or uncontrolled symptoms. As the severity of asthma will differ for different people, some people will only need to use reliever inhalers. Others may need to use a preventer inhaler as they have regular attacks and those with really severe symptoms may be on long term oral steroids.Other oral medications may also be used in asthma. Montelukast is a tablet that blocks the effect on the airways of a substance called leukotriene, which causes inflammation in the airways. Another medication called theophylline works on relaxing the muscles around the airways. These medications are usually used in patients whose symptoms aren’t well controlled on conventional inhalers.



                                        
                                        
    
        
            
                

                

                
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Sym:
Tests
Asthma is largely diagnosed from the history with a patient having the classical symptoms of asthma. However, tests such as lung function tests can also be useful to help diagnose asthma and to distinguish asthma from other lung diseases. These lung function tests are also used to keep an eye on patients who have asthma to monitor their progress and during severe attacks to help determine treatment.  Other tests such as blood tests may also help to identify allergies that may be making asthma worse.

Lung Function Tests

These are simple breathing tests which measure the amount of air you can blow out from your lungs or how quickly you can blow air out from your lungs. This may be done by blowing into a machine called a spirometer or a small hand held device called a peak flow meter. Spirometry: Spirometry is a test to measure how much air you can blow out of your lungs and how quickly you can do so. It calculates two main things. Firstly, the amount of air you can blow out in one second (called forced expiratory volume in 1 second or FEV1) and secondly the total amount of air you can blow out of your lungs in one breath (called forced vital capacity or FVC).  After this, a ratio of the two values is calculated, and this is called the FEV1/FVC ratio.  As you would expect in asthma if your airways are narrowed and inflamed you will not be able to blow out all the air out from your lungs and it will take you longer to do so. An FEV1/FVC value of <70% indicates that you have narrowed airways, often called obstructive lung disease. This can occur in asthma but in other lung diseases too. However, an improvement in the value after treatment to open up the airways (e.g. an inhaler) is typical of asthma. Therefore, spirometry may be repeated after using an inhaler to see if there is any improvement. It is important to remember however that as asthma symptoms are variable a normal result does not mean that you do not have asthma. However a normal result usually excludes any other lung disease from causing your symptoms.

Peak flow testing: Unlike spirometry which measures the amount of air you can breathe out from your lungs, peak flow testing only looks at how hard and how quickly you can blow air out from your lungs. If your airways are narrowed, as in asthma, you will not be able to blow out air as hard or as quickly as would be expected for your age and size. As asthma symptoms vary and are usually worse in the morning and night, you may be asked to keep a diary of the peak flow results .If you are asthmatic it would be typical to see a variation in the results with the worse results being in the morning and the evening.

Reversability testing: This is when tests such as spirometry and other lung function tests are done before and after a treatment for asthma e.g. an inhaler or steroid tablets. If a patient is asthmatic it would be expected that the results would improve dramatically after treatment.

Trial of treatment: Similarly doctors or nurses may prescribe asthma medications to see if your symptoms respond to treatment. If they do it is a good indication that you have asthma but if they don’t taking them would not have done you any harm.


Additional tests and Imaging Studies

Pulse oximetry – This measures the amount oxygen in the blood by placing a small plastic device over the end of a finger.  The amount of oxygen in the body would be expected to be normal in asthma patients unless they are having a severe attack which is stopping them from breathing properly.  Therefore this test may be used for a person having a severe asthma attack in to see if enough oxygen is getting around the body. It is also helpful in ruling out diseases other than asthma, as if a person was not having an acute asthma attack but had low oxygen levels, it is likely that their symptoms may be caused by another lung disease. 

Chest x-ray - to look for signs of infections or other lung diseases that may mimic asthma An x-ray may also be used to look for signs of asthma as the lungs are often larger than normal due to loss of elastic recoil in asthmatic lungs. Elastic recoil is the ability of the lungs to rebound back to their normal position after been stretched by breathing in. As this is often lost in asthma the tissue of the lungs may not be packed as tightly and therefore the lungs may appear “hyper-inflated”on x-ray. This is usually more common in those with severe or long standing asthma symptoms. Therefore the chest x-ray is often normal in asthmatic patients and a normal x-ray does not mean you do not have asthma.


For other lung function tests see, John Hopkins Medicine: Pulmonary Function Laboratory.

Laboratory Tests 

Laboratory testing is used to help rule out conditions that cause symptoms similar to asthma, to identify allergies, and to help find and assess complications of asthma. During severe asthma attacks, testing may be used to look for problems with oxygen levels, the body`s acidity and signs of infection. Tests include:

Allergy testing – blood tests for the allergen(s) suspected to be causing symptoms, such as dust mites, mould, pets, and pollens. This is normally reserved for patients with severe asthma or asthma not responding to treatment. 

Blood gases – Blood gases may be used in severe asthma attacks to check for any complications from the breathing difficulty.In this test an arterial blood sample is collected to look at acidity, oxygen, and carbon dioxide levelsThis is because the difficulty in breathing can alter the levels of oxygen and carbon dioxide in the blood, the latter of which can cause dangerous pH changes in the blood stream as carbon dioxide is acidic. Therefore too much carbon dioxide or too little carbon dioxide can alter the pH of the blood. If this happens a person may need to have specific treatment to counteract this as many of the body’s normal functions do not work if the pH in the blood changes.

FBC (Full Blood Count) – to look for signs of infection that may be complicating asthma or mimicking the signs of asthma. Infection would typically result in a raised white cell count as these cells fight infection.  In addition, eosinophils a particular type of white blood cell can be increased with inflammation in some asthma patients and may help with diagnosis.

Renal Function –to ensure the kidneys are working as they may be affected during an acute asthma attack especially if there are pH changes in the blood.

Theophylline – therapeutic drug monitoring if a patient is taking this medication levels may be checked to ensure the concentration in the blood is adequate. 


Other tests that may be occasionally requested:

Cystic fibrosis tests – to rule out cystic fibrosis another lung disease

Sputum culture – to diagnose lung infections caused by bacteria or fungi

AFB smear and culture – to diagnose tuberculosis and nontuberculous mycobacteria (NTM) which are other causes of lung infection

Lung biopsy – to look for damage to the lungs

Sputum cytology – occasionally requested to look for abnormal cells in the lungs. 

Blood Glucose – may help rule out diabetic acidosis which can cause breathing problems and imitate symptoms of an asthma attack.


For additional laboratory testing that is sometimes performed, see  Lung Diseases.



                                        
                                        
    
        
            
                
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Tests:
Treatments
The goals with asthma treatment are to:

Prevent or minimize the number of asthma attacks

Resolve asthma attacks quickly and reduce A&E visits and hospitalisations

Achieve and maintain good asthma control

Minimize and slow the progression of lung damage

Identify, treat, and resolve where possible, conditions that make asthma worse, complications associated with asthma or side effects from medication

Educate patients about their condition and their treatment

Encourage an active normal lifestyle


Prevention of asthma attacks is achieved through a combination of avoiding substances that trigger episodes, having good asthma control, and recognizing and addressing the early signs of an impending attack. For more on this, visit the Asthma UK website.

Asthma treatment is tailored to the individual and depends upon the severity. Both long-term and short-term controls must be addressed. Even people with mild asthma may occasionally have severe asthma attacks.

Patients should work with their doctor to learn about their or their child’s asthma. Doctors can help patients keep a close eye on their asthma and ensure they get the best medicine to treat their asthma over time. They should develop a treatment plan that guides their day-to-day asthma control, guides their actions when an asthma attack occurs, and helps them determine when they should seek medical attention. Doctors will take into account the entire clinical picture and all of the drugs that they are taking when determining the best course of treatment.



                                        
                                        
    
        
            
                
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What is the immune system?
The immune system is the body’s means of protection against ``foreign`` substances such as bacteria and viruses. It is composed of two major parts. One component involves the production of antibodies, proteins that recognise ``foreign`` substances and cause them to be removed from the body. The other component involves specialised blood cells called T lymphocytes which can attack and kill ``foreign`` substances directly. Antibodies and T lymphocytes become protective only after they are exposed to a ``foreign`` substance for the first time. This is the reason that we use vaccinations: to allow our immune system to recognise weakened or inactivated forms of bacteria and viruses that can cause disease, so that we will be protected if we actually come in contact with them.

What are autoimmune disorders? 
Normally the immune system recognises the tissues in the body that are not ``foreign`` and does not attack them. Autoimmune disorders are diseases caused by the body producing an immune response against its own tissues. The cause of autoimmune diseases is unknown, but it appears that there is a genetic predisposition to develop autoimmune disease in many cases (i.e. they are passed down through families). In a few types of autoimmune disease (such as rheumatic fever), a bacteria or virus triggers an immune response, and the antibodies or T-cells attack normal cells because they have some part of their structure that resembles a part of the infecting germ.

Autoimmune disorders fall into two general types: those that damage many organs (`systemic`), and those where only a single organor tissue is directly damaged by the autoimmune process (`localised`). Some of the most common types of autoimmune disorders include:

 

Systemic Autoimmune Diseases Localised Autoimmune Diseases
Rheumatoid arthritis (joints; less commonly lung, skin)
Type 1 Diabetes Mellitus (pancreas islets)
Lupus [Systemic Lupus Erythematosus] (skin, joints, kidneys, heart, brain, red blood cells, other)
Hashimoto`s thyroiditis, Graves` disease (thyroid)
Scleroderma (skin, intestine, less commonly lung)
Coeliac disease, Crohn`s disease, Ulcerative colitis (GI tract)
Sjogren`s syndrome (salivary glands, tear glands, joints)
Multiple sclerosis*, Guillain-Barre syndrome (brain)
Goodpasture`s syndrome (lungs, kidneys)
Addison`s disease (adrenal)
Wegener`s granulomatosis (sinuses, lungs, kidneys)
Primary biliary sclerosis, Sclerosing cholangitis, Autoimmune hepatitis (liver)
* There is still some debate as to whether MS is an autoimmune disease

In some cases, a person may have more than one autoimmune disease; for example, persons with Addison`s disease often have type 1 diabetes, while persons with sclerosing cholangitis often have either ulcerative colitis or Crohn`s disease.

In some cases, the antibodies may not be directed at a specific tissue or organ; for example, antiphospholipid antibodies can react with the clotting proteins in the bloood, leading to formation of blood clots within the blood vessels (thrombosis).



                                        
                                        
    
        
            
                

                

                
                    <a title=``

Tests:
What is the immune system?
The immune system is the body’s means of protection against ``foreign`` substances such as bacteria and viruses. It is composed of two major parts. One component involves the production of antibodies, proteins that recognise ``foreign`` substances and cause them to be removed from the body. The other component involves specialised blood cells called T lymphocytes which can attack and kill ``foreign`` substances directly. Antibodies and T lymphocytes become protective only after they are exposed to a ``foreign`` substance for the first time. This is the reason that we use vaccinations: to allow our immune system to recognise weakened or inactivated forms of bacteria and viruses that can cause disease, so that we will be protected if we actually come in contact with them.

What are autoimmune disorders? 
Normally the immune system recognises the tissues in the body that are not ``foreign`` and does not attack them. Autoimmune disorders are diseases caused by the body producing an immune response against its own tissues. The cause of autoimmune diseases is unknown, but it appears that there is a genetic predisposition to develop autoimmune disease in many cases (i.e. they are passed down through families). In a few types of autoimmune disease (such as rheumatic fever), a bacteria or virus triggers an immune response, and the antibodies or T-cells attack normal cells because they have some part of their structure that resembles a part of the infecting germ.

Autoimmune disorders fall into two general types: those that damage many organs (`systemic`), and those where only a single organor tissue is directly damaged by the autoimmune process (`localised`). Some of the most common types of autoimmune disorders include:

 

Systemic Autoimmune Diseases Localised Autoimmune Diseases
Rheumatoid arthritis (joints; less commonly lung, skin)
Type 1 Diabetes Mellitus (pancreas islets)
Lupus [Systemic Lupus Erythematosus] (skin, joints, kidneys, heart, brain, red blood cells, other)
Hashimoto`s thyroiditis, Graves` disease (thyroid)
Scleroderma (skin, intestine, less commonly lung)
Coeliac disease, Crohn`s disease, Ulcerative colitis (GI tract)
Sjogren`s syndrome (salivary glands, tear glands, joints)
Multiple sclerosis*, Guillain-Barre syndrome (brain)
Goodpasture`s syndrome (lungs, kidneys)
Addison`s disease (adrenal)
Wegener`s granulomatosis (sinuses, lungs, kidneys)
Primary biliary sclerosis, Sclerosing cholangitis, Autoimmune hepatitis (liver)
* There is still some debate as to whether MS is an autoimmune disease

In some cases, a person may have more than one autoimmune disease; for example, persons with Addison`s disease often have type 1 diabetes, while persons with sclerosing cholangitis often have either ulcerative colitis or Crohn`s disease.

In some cases, the antibodies may not be directed at a specific tissue or organ; for example, antiphospholipid antibodies can react with the clotting proteins in the bloood, leading to formation of blood clots within the blood vessels (thrombosis).



                                        
                                        
    
        
            
                

                

                
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What is it?
A bleeding disorder is an acquired or inherited tendency to bleed excessively. Normally, blood remains in the circulatory system inside the blood vessels. However, if veins or arteries are injured, they will begin to leak blood, either externally or into body tissues. The body stops the blood loss through a complex clotting process called haemostasis. During haemostasis, the injured blood vessel constricts to reduce blood flow, platelets adhere to the injury site and clump together to form a loose platelet plug, and a process of clot formation called the coagulation cascade is initiated.

Once the coagulation cascade has been initiated, coagulation factors are activated one after the other in a sequential process. As the cascade nears completion, soluble fibrinogen (fibrinogen dissolved in fluid) is changed into insoluble fibrin threads. These threads crosslink together to form a fibrin net that then stabilises at the injury site. The fibrin net adheres to the site of injury along with aggregated cell fragments called platelets to form a stable blood clot. This barrier prevents additional blood loss and remains in place until the injured area has healed. Haemostasis is a dynamic process, though, so once a clot is formed, other factors are activated to slow the clotting process. They eventually begin to dissolve the clot in a process called fibrinolysis so that the clot is removed when the injury site is healed. In normal, healthy individuals, this balance between clot formation and dissolution ensures that bleeding does not become excessive and that clots are removed once they are no longer needed.

Bleeding disorders occur when something goes wrong with the clotting process. If a component is missing, deficient, or dysfunctional, excessive bleeding may occur. Such bleeding may be severe, with bleeding episodes beginning in early childhood, or mild, involving bleeding for an extended period of time following surgery, dental procedures, or trauma. Bleeding disorders may cause symptoms that range from nosebleeds, bleeding gums, bruising, heavy menstrual periods, blood in the stool and/or urine to arthritic-type symptoms (damage from bleeding into joints), loss of vision, and chronic anaemia.

Abnormalities may involve: the structure of the blood vessels, the production or function of one or more of the coagulation factors, the development of antibodies against one or more of the factors, the production or function of the platelets, and/or the integrity and stability of the blood clot. Inherited bleeding disorders are rare and tend to be caused by a deficiency or dysfunction of a single coagulation factor or clotting component. The most common are Haemophilia A (factor VIII deficiency) and von Willebrand’s disease (von Willebrand factor is a protein that helps platelets adhere to the injury site). Acquired bleeding disorders are varied and occur more frequently than inherited disorders. Common ones include multiple factor deficiencies caused by liver disease or vitamin K deficiency (since many coagulation factors are produced in the liver and several are vitamin K dependent) and factor inhibitors (especially factor VIII inhibitor, an antibody against factor VIII).



                                        
                                        
    
        
            
                

                

                
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Sym:
Structural problems with blood vessels:
Inherited
Hemorrhagic Telangiectasia -- blood vessels are more fragile than usual leading to recurrent bleeding episodes

Ehlers-Danlos syndrome --collagen that supports blood vessels is unusually weak and elastic, making blood vessels less protected and more prone to injury

Acquired
Henoch-Schonlein purpura --small blood vessels are inflamed and prone to leakage, a condition thought to be an autoimmune response and may be acute or chronic



                                        
                                        
    
        
            
                
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Tests:
Platelet deficiency (thrombocytopenia) or dysfunction
Inherited
A variety of rare inherited conditions may cause platelet disorders. The most severe are called Glanzmann`s Trombasthenia and Bernard Soulier Syndrome.

Acquired


Bone marrow not producing enough platelets (e.g. leukaemia, aplastic anaemia)





Immune thrombocytopenic purpura (ITP), autoimmune disease; may go away on its own.





Drugs such as quinine, sulfa antibiotics, and gold salts may decrease number of platelets.





Drugs such as aspirin and other non-steroidal anti-inflammatory drugs will affect platelets functions.





Disease-related: HIV, liver disease, kidney failure, cirrhosis of the liver, and systemic lupus erythematosus may all cause decreased platelet counts





Massive blood transfusion (platelet survival is limited in stored blood)





Cardiopulmonary bypass surgery (platelets are activated and become deficient and dysfunctional)






                                        
                                        
    
        
            
                
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What is bone marrow?
The bone marrow is the only site of blood production after birth. Bones are composed of both cortex and medulla.  The cortex is a strong layer of compact bone and the medulla is a honeycomb of spongy bone which forms the medullary cavity and contains the bone marrow.  The marrow is soft fatty tissue which can be found inside the sternum (middle of the chest), pelvis (hip bone), and femur (thigh bone). Fibrous tissue in the marrow supports haemopoietic stem cells, which are large ``primitive`` undifferentiated cells. The haemopoietic stem cells can differentiate (change and specialise) to become a particular type of mature cell.  These include erythrocytes, granulocytes, macrophages, monocytes, mast cells, megakaryocytes and lymphoid cells. Normally, only mature cells are released from the bone marrow and enter the bloodstream.

Any condition that may cause an abnormality in the production of the haemopoietic stem cell, the haemopoietic precursor or the mature blood cells can cause a bone marrow disorder. A variety of things can go wrong, including:

The over production of one cell type which will affect the overall cell balance in the bone marrow.  This may result in a decrease in the production of other cell types.

Production of abnormal cells that don`t mature or function properly.

Cell compression caused by an overgrowth of the supporting fibrous tissue network, resulting in abnormally shaped cells and decreased numbers of cells.

One cell lineage that becomes predominant because the cells do not undergo cell death at a normal rate.

The decreased production of cells, or the rapid loss of cells because they are fragile.

Insufficient nutrients available to create normal red blood cells (if iron deficient red blood cells may be microcytic (cells are smaller than normal), if vitamin B12 or folate deficient red blood cells may be macrocytic (cells are larger than normal)).

Diseases may spread to the bone marrow, affecting cell production and maturation.


The Cells

White Blood Cells (WBCs)
White blood cells are involved in defending the body against infectious diseases and foreign materials.There are five different types of white blood cells: lymphocytes, neutrophils (also called granulocytes), eosinophils, basophils, and monocytes. Each plays a unique role in protecting the body from infection. Neutrophils and monocytes kill and digest bacteria. Eosinophils and basophils produce cytokines which regulate and adapt the immune response. Lymphocytes exist in the blood and lymphatic system. There are two main types of lymphocytes, T cells and B cells. T cells, which finish maturation in the thymus gland, help the body distinguish between itself and foreign agents. B cells produce antibodies - proteins that attach to specific antigens. The number of blood cells present in the bloodstream is often the first indicator of disease.

Red Blood Cells (RBCs)
The main function of red blood cells (RBCs) is to transport oxygen from the lungs to tissues and organs throughout the body. They are able to perform this important function due the presence of haemoglobin (a protein) present within each cell.

Platelets (Thrombocytes)
Platelets are fragments of cells called megakaryocytes. The body uses platelets in the clotting process to plug holes in leaking blood vessels and to help activate other clotting factors.

The Disorders

Leukaemia is a cancer of the blood cells that may affect any blood cell type. Usually the bone marrow produces stem cells that are allowed to mature into ``adult`` blood cells. However, in cases of leukaemia the affected bone marrow begins with one abnormal haemopoietic stem cell that begins to continuously replicate itself. The resulting leukaemic cells are immature blood cells that are known as blast cells. These blast cells can continually replicate but are unable to differentiate into normal functional mature blood cells. Patients with leukaemia may have frequent infections, fatigue, bleeding, bruising, anaemia, night sweats, and bone and joint pain. The spleen, which filters the blood removing old cells, may become enlarged, as may the liver and lymph nodes.

Myeloproliferative neoplasms (MPN) are a group of diseases present in the bone marrow and peripheral blood, characterised by the overproduction of abnormal myeloid precursor cells. In MPN conditions, excessive production of a cell`s precursor leads to an increased number of that particular type of cell, and decreased numbers of other types of blood cell. This results in symptoms related to blood cell overproduction, shortages, and dysfunction throughout the body.

 Myelodysplastic Syndrome (MDS) is a group of diseases characterised by abnormal bone marrow cell production. Frequently with MDS, cell turn over is increased as well as cell death therefore not enough normal blood cells are produced. This leads to symptoms of anaemia, infection, and excessive bleeding and bruising. MDS syndromes are classified by how the cells in the bone marrow and bloodstream look under the microscope. Over time, MDS can progress to acute myeloid leukaemia (AML).

 Aplastic anaemia is associated with a loss of cell precursors (usually red blood cells) due to a defect in the stem cell producing them or due to an injury to the bone marrow environment. Some aplastic anaemias are caused by exposure to chemicals such as benzene, radiation, or certain drugs. A few are due to rare genetic abnormalities such as Fanconi`s anaemia or associated with an acute viral illness such as human parvovirus. The cause is unknown in about half of the cases.

 Other disorders include:

Plasma cell disorders, a group of conditions associated with an overproduction of one clone of a B lymphocyte and its antibody protein, including multiple myeloma, primary amyloidosis and “monoclonal gammopathy of uncertain significance” (MGUS). 

Lymphomas and other cancers that spread into the marrow and affect cell production. 

Anaemias caused by deficiencies (e.g. iron) and/or haemoglobinopathies that result in the production of abnormal haemoglobin. 

Anaemias caused by a deficiency or dysfunction of the cytokine erythropoietin, a protein produced by the kidneys that stimulates RBC production. 




                                        
                                        
    
        
            
                

                

                
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Sym:
Signs and symptoms
Bone marrow disorder symptoms may be severe and life threatening or very subtle. Some chronic conditions may be discovered during a routine physical examination, while other acute conditions can present in a rapid and life threatening manner.
Symptoms in both cases include:

Fever

Weakness, fatigue, and pallor due to anaemia

Weight loss

Swollen lymph nodes, liver, spleen, kidneys, and testicles

Bleeding and bruising

Night sweats

Bone and joint pain

Frequent infections

Headaches, vomiting, confusion, and seizures 




                                        
                                        
    
        
            
                
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Tests:
Tests
Laboratory Tests

Full blood count (FBC) and differential 
These are routinely trquested tests that are performed in order to count the number and relative proportion of each of the different types of cells in the blood stream. They give your doctor information about the size, shape, and relative maturity of the blood cells present. FBCs and differentials are snapshots of what is happening in the body at the time the blood is taken. They are used to detect cell abnormalities, determine their importance, help diagnose their cause, and to monitor response to treatment. Irregularities in cell counts, such as elevated WBC counts or low RBC counts, may be due to bone marrow disorders, but they may also be due to a variety of other temporary or chronic conditions.

Bone marrow aspiration/biopsy
If your doctor suspects a bone marrow disorder, they may then perform a bone marrow aspiration or biopsy to investigate the production and maturation of the different cell lineages present in the bone marrow.

When a doctor examines the sample from your bone marrow under the microscope, they will be able to see the number, size, and shape of your red and white blood cells and platelet precursors (megakaryocytes), determine the proportions of mature and immature cells, see any overgrowth of fibrous tissue, and detect any cancer cells from cancers that may have spread to the marrow. Most bone marrow disorders can be diagnosed during this examination.

Iron storage can also be estimated by a marrow examination, although if iron deficiency is suspected, further blood tests are usually requested  to confirm the diagnosis (ferritin, iron and total iron binding capacity).

Flow Cytometry 
Flow cytometry is a technique that is used to measure cell surface antigens present on the different blood cell lineges. This can be performed on cells from the bone marrow, peripheral blood, or other body fluids. This technique involves incubating your blood cell antigens with specific antibodies which bind these markers.  The binding of these antibodies can then be used to determine if the cell population is normal or abnormal.

Genetic Tests 
These tests look at several different types of genetic abnormalities in blood cells.

 

Karyotyping:  looks for numerical and structural chromosomal abnormalities. Structural abnormalities include translocations in which part of one chromosome is transferred to different a location.


 Mutation analysis can be used to determine when specific changes arise to the genetic material.  These include deletion and insertions to the DNA. This technique involves removing the DNA from the cell population in the bone marrow or the blood, manipulating the DNA to find the correct gene, and then using special tests that look for one of the abnormalities listed above in the isolated gene.


 

Lumbar puncture (spinal tap) 
If leukaemia is found in the bone marrow, a lumbar puncture may be performed by the doctor as a follow-up test to look for leukaemic cells in the cerobrospinal fluid (CSF).

Non-Laboratory Tests

X-rays are sometimes used to look for signs associated with some bone marrow diseases, such as masses of cells in areas like the chest, spleen, and liver.



                                        
                                        
    
        
            
                
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What is it?
The bowel forms part of the digestive system and is divided into two parts, the small bowel and the large bowel. The large bowel is made up of the colon and rectum; the colon makes up most of the 5 foot length of the large bowel.
Food passes from the stomach to the small bowel. After the small bowel takes nutrients into the body, any undigested food passes through the large bowel, where water is removed from the waste matter.

Bowel cancer is also known as colon, rectal or colorectal cancer. Bowel cancer is the third most common cancer in the UK, after lung and breast cancer. It is the second most common cause of cancer death, after lung cancer. Approximately 95% of all diagnoses are in people over the age of 50. Most cases of bowel cancer begin with the development of benign polyps, finger-like growths that protrude into the intestinal cavity. These benign polyps are not cancer and relatively common in people over age 50. They can become cancerous, though, with the ability to invade the normal bowel and spread to other parts of the body (metastasize). The tumours can create blockages in the intestine, preventing elimination.

The exact causes of bowel cancer are not known, but risk appears to be associated with genetic, dietary, and lifestyle factors. Those with a personal or family history of bowel cancer or polyps are at a higher risk, as are those with ulcerative colitis, inflammatory bowel disease, and immunodeficiency disorders. A very rare inherited disease, called Familial Adenomatous Polyposis (FAP), causes benign polyps to develop early in life and cancer develops in almost all affected persons unless the colon is removed. Another genetic condition called Hereditary Non-polyposis Colorectal Cancer (HNPCC) accounts for around 2-5% of cases of bowel cancer. Polyps develop at a younger age and at a greater frequency than in individuals who do not have the disease, but not in such large numbers as FAP.

The risk of bowel cancer increases with age and with the occurrence of cancers in other parts of the body. High fat and high meat diets are risk factors, especially when combined with minimal fruit, vegetable, and fibre intake. Lifestyle risk factors include cigarette smoking, obesity, and a sedentary lifestyle.



                                        
                                        
    
        
            
                

                

                
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Sym:
Symptoms
Bowel cancer frequently develops without early symptoms. Symptoms that can occur include:

Diarrhoea, constipation, or other changes in bowel habit lasting 10 days or more

Bright red blood or mucus in the stool

Very dark flecks in the stool (which can also be due to blood)

Unexplained anaemia

Abdominal pain and tenderness in the lower abdomen

Abdominal discomfort (frequent gas pains, bloating, fullness, and cramps)

A feeling of still wanting to go to the toilet even after having emptied the bowels

Complete blockage of the intestine

Weight loss for no known reason

Constant tiredness


Although these symptoms can be caused by cancer they are also seen in a number of other conditions. It is important to talk to your doctor so the cause can be established. Polyps may develop into a cancer but if they are detected and removed bowel cancer can often be prevented. If bowel cancer is detected early, it is up to 90% curable.



                                        
                                        
    
        
            
                
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Tests:
Tests
Deciding which screening test to use and how often ultimately depends on a person`s individual risk of bowel cancer. If a first-degree relative has had bowel cancer, for instance, screening should start 10 years prior to the age that relative was diagnosed to help identify possible pre-cancerous polyps.

The NHS Bowel Cancer Screening Programme now offers screening every two years to all men and women aged 60 to 74 in England using a guaiac based faecal occult blood test (gFOBT). People within the age range are automatically sent an invitation, then their screening kit, so they can perform the test at home. After the first screening test, individuals are sent an invitation and screening kit every two years. The gFOBT does not diagnose bowel cancer, but the results will indicate whether an individual may need an examination of their bowel by colonoscopy.
 For further information about the NHS Bowel Cancer Screening Programme see www.cancerscreening.nhs.uk/bowel/index.html. Separate screening programmes are offered in Wales, Scotland and Northern Ireland.

There are four common screening tests for detecting bowel cancer:

Faecal occult blood (FOB) test is a test for hidden blood in the stool.

Sigmoidoscopy is an examination of the rectum and lower colon with a rigid or flexible lighted instrument. 

Double barium contrast enema is a series of X-rays of the colon and rectum. The patient is given an enema with a white, chalky solution that outlines the colon and rectum on the X-rays.

Colonoscopy is an examination of the rectum and entire colon with a lighted instrument. It may be the most useful, but it is also the most invasive.


There is also a newer test called CT colonography or virtual colonoscopy. Instead of having a colonoscope put inside the bowel, it may be possible to have an examination with pictures created by a computer. Air or carbon dioxide is pumped into the back passage to help open up the bowel. Two CT scans are performed; one when the patient is lying on their back and one lying on their front. A computer matches up the two scans and makes a `virtual` scan of the inside of the bowel.

In addition to these, a doctor may perform a rectal examination to feel for a rectal mass with a gloved finger. Most bowel cancers, however, are beyond the reach of a finger and have no symptoms; hidden blood in the stool, detected as FOB, is often the first and only warning sign.

Individuals in families that are affected by FAP or HNPCC will have a genetic test are used to determine whether they have inherited the disease This information will be used to decide how frequently they are tested by colonoscopy.



                                        
                                        
    
        
            
                
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Overview
Benign prostatic hypertrophy (BPH), also known as benign prostatic hyperplasia and benign prostate enlargement (BPE), is a non-cancerous enlargement of the prostate that frequently results in a slow urine stream, a build up of urine in the bladder, and often a frequent and urgent need to pass urine. It is a very common condition in men over 50, with one quarter of men over 65 having some symptoms. The name refers to an increase in size of the inner portion of the prostate gland. Unlike prostate cancer, which usually forms in the outer portion of the prostate, untreated BPH is mainly an inconvenience and usually not a life-threatening disease.



                                        
                                        
    
        
            
                

                

                
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Sym:
Tests
The Prostate-Specific Antigen blood test (PSA) and rectal examination can help the early detection of BPH. Creatinine may also be measured to see if kidney function has been affected.



                                        
                                        
    
        
            
                
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Treatment
If BPH is left untreated, urine can back up into the kidneys, leading to kidney damage and failure, and weakening of the bladder muscle so that it is not strong enough to expel all the urine.

Treatment options for BPH include surgery and medicine to reduce the amount of tissue and increase the flow of urine.



                                        
                                        
    
        
            
                
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Overview
Breast cancer occurs most often in women, although men can also develop this disease. Each year, more women in the United Kingdom are diagnosed with breast cancer than with any other, cancer. 1 in 8 women in the UK will develop the disease at some time in their life. Here, we focus on breast cancer in women and recommend that men who have been diagnosed with breast cancer speak to their doctor for information specific to them.

Breast cancer can develop at any age, but the risk of developing it increases as women get older. The majority of women who develop breast cancer are past the menopause but about 1 in 5 develop the condition below the age of 50. Almost half of female breast cancer cases are diagnosed in the 50-69 age groups. This is why women in this age group and those aged 70 are invited to attend the UK national screening programme where they have routine 3 yearly mammograms. Although very few cases of breast cancer occur in women in their teens or early 20s, it is the commonest single cause of death among women in the UK between the ages of 35-45 years. It is also the most commonly diagnosed cancer in women aged 35-39.

While 5% to 10% of breast cancers are related to an inherited defect in one of two genes (BRCA-1 or BRCA-2), the majority of cases develop for reasons we do not yet understand. As a general rule, those at higher risk of developing breast cancer include women whose close relatives have had the disease, women who have not had children and women who had their first child after the age of 30.

Breast cancer may be divided into three stages, reflecting the extent to which the cancer has spread in the body.

Early stage breast cancer is usually confined to the ducts (which transport milk to the nipple during lactation (breast feeding)) or to the lobules (small areas of tissue where milk is produced in the breast) and is known as non-invasive cancer. If the cancer is confined to the ducts, it is called ductal carcinoma in situ (DCIS) and if it is confined to the lobules, it is called lobular carcinoma in situ (LCIS). At this early stage, the cancer usually cannot be felt as a lump in the breast. However, DCIS can sometimes cause signs and symptoms such as a breast lump or a bloody discharge from the nipple.  Because DICS usually has no symptoms however it is normally detected incidentally by mammography.

Invasive stage breast cancer is characterized by a spread of the cancer beyond the ducts or lobules and into the surrounding areas of breast tissue. At this stage, the cancer may be detected through breast self-examination, by a clinical breast examination performed by health care professional, or by mammography.

Metastatic stage breast cancer is cancer that has spread (metastasised) to other areas of the body, including nearby lymph nodes. The most common lymph nodes it spreads to first are in the axilla ( armpit) and this can cause a lump in that area. From there it can spread into the bloodstream to other areas, most commonly the lung, liver and bones.  At this stage, treatment requires the combined effort of several specialists, including surgeons, oncologists, and radiologists.




                                        
                                        
    
        
            
                

                

                
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Sym:
Laboratory Tests
There are a variety of laboratory tests that can be performed to diagnose and monitor breast cancer and its treatment. These tests can be broken down into four groups, based on the purpose of testing:

To diagnose: cytology (fine needle aspiration) and surgical pathology (tissue sampling via core biopsy

To determine treatment options: Her-2/neu, oestrogen receptors and progesterone receptors

To monitor (watch for recurrence): CA 15-3 

To determine genetic risk: BRCA-1 and BRCA-2 


When a radiologist detects a suspicious on a mammogram, more tests need to be done to see if it could possibly be a cancer. Abnormalities on mammogram may include finding micro calcifications (tiny white dots on mammogram), masses (where there appears to be a lump on the x-ray), or areas of distortion in the breast tissue. Whilst all of these may be associated with breast cancer they can also be caused by non cancerous (benign) breast disease and 5-15% of women with abnormal mammograms will not have breast cancer. Also a palpable breast lump may be caused by a cyst or a fibro-adenoma which is not cancerous. Therefore any woman with a breast lump or abnormal mammogram will need more testing before a diagnosis can be made. This may be done by requesting more images of the breast with more in-depth scans (such as an ultrasound or MRI) or by a biopsy of the lump or suspicious area. For a biopsy, a small sample of tissue is taken from the suspicious area of the breast so that a pathologist can examine the cells for signs of cancer. There are several types of biopsies (fine needle aspiration, core  biopsy, surgical biopsy) performed to first determine whether the area is benign (non-cancerous) or malignant (cancerous). This determination will guide treatment. The type of biopsy depends on the size of the abnormal area and also whether it can be felt on examination. Usually a fine needle aspiration (FNA) is performed for woman with breast lumps that can be easily felt (as the lump is close to the skin) and a few cells are removed from the lump to be examined under a microscope. Sometimes if the lump is quite big or is quite deep in the breast tissue, a core biopsy is taken which involves taking a larger sample of the tissue as compared to the few cells taken in a FNA. Because a core needle can remove a larger tissue sample, and more samples are taken for comparison, a core needle biopsy is more accurate than a fine needle aspiration. However, if you have very small breasts or very hard lumps, a core needle may not be able to take a good tissue sample, and other biopsy methods may be required. Core biopsies may also be done under radiological guidance (so the doctor knows where to aim the needle) if the lump cannot be felt easily. This may be the case where suspicious areas are picked up incidentally on mammogram and cannot be felt on the patient.  Occasionally the lump may be removed surgically first and a biopsy done after removal. This is called an excision biopsy if the entire lump is removed or an incisional biopsy if only part of the lump is removed.

The testing of biopsy material for cancer involves looking at cells under a microscope for evidence that cells have become malignant (changed from normal breast cells to cancer cells). Needle aspirations (where a fine needle is inserted into the lump and a few cells are removed) are limited in that they only show if malignant cells are present. A tissue biopsy is needed to determine if the cells are at an early stage or invasive as this involves removing a small sample of tissue and shows whether the cancerous cells have actually invaded into the surrounding tissue or not.

If the pathologist`s diagnosis is invasive carcinoma, there are several tests that may be performed on the cancer cells that guide in treatment and prognosis of the patient. The most useful of these are Her-2/neu and oestrogen and progesterone receptors.

Her-2/neu is receptor that is found on the surface of certain cancer cells. It is found in many different cancers and is not specific to breast cancer. It is made by a specific gene called the Her-2/neu gene which causes the cancer cells to make an excess of the Her-2 receptor. The faulty gene only occurs in cancer cells and is not a gene that you can inherit from your family.  Some breast cancer cells have a lot more Her-2 receptors than others. In this case, the tumour is described as being Her-2-positive. It is thought that about 20-25% of women with breast cancer will have Her-2-positive tumours. Human epidermal growth factor, which occurs naturally in the body, can bind to these Her-2 receptors causing the cancer cells to grow and divide more rapidly. Because of this Her-2-positive breast cancers tend to be more aggressive than other types of breast cancer.  However, fortunately there are treatments that specifically target the Her-2 receptor preventing growth of the cancer cells and it is therefore important to know if a tumour is Her-2 positive or not. This treatment called Herceptin (Trastuzumab) blocks these Her-2 protein receptors, preventing the human epidermal growth factor from attaching and preventing growth of the tumour cells. Herceptin can therefore be used after surgery to reduce the risk of the cancer returning or can often be used to shrink the cancer before surgery. It can also be used to treat the cancer after it has returned or spread.  There are two common techniques used to determine Her-2/neu status in breast cancer and to see whether or not a tumour is er-2 positive: immunohistochemistry (a method for detecting the amount of the Her-2 protein in the cells) and fluorescene in situ hybridization (FISH), which determines the amount of the Her-2/neu gene in each cell.. Currently, the gold standard for assessing Her-2/neu status is immunohistochemistry, and the results are scored as 0, 1+, 2+ and 3+ where 0 and 1+ are considered negative results. A 3+ result is considered positive and means that there are significant levels of the Her-2/neu receptor in the cell and the cancer is therefore Her-2 positive.  A 2+ result is less straightforward and means that a moderate amount of Her-2 protein has been found. As this is inconclusive, this result is usually confirmed by FISH testing to check as to whether the Her-2/neu gene is also present in significant levels in the cell. If the FISH result confirms that there are excessive levels of the Her-2/neu gene as well, the cancer would be described as Her-2 positive.  Therefore, currently, FISH is used to confirm Her-2/neu positive status and eligibility for Herceptin in cases of 2+ immunohistochemistry.. 

Oestrogen and progesterone receptor status is also determined by immunohistochemistry and looks for the presence of proteins that act as receptors for the female hormones oestrogen and progesterone. In tumours that have these receptors, normal female hormones bind to these receptors and cause the cancer cells to grow and divide more rapidly.  The presence of these receptors are very important prognostic markers in breast cancer, and the higher the percentage of overall cells positive for the hormonal receptors the better the prognosis. If there are a significant number of oestrogen receptors, it is known as oestrogen-receptor positive breast cancer (ER+). If not, it’s known as oestrogen-receptor negative breast cancer (ER-).  Similarly the cancer is progesterone-receptor-positive (PR+) if it has progesterone receptors or progesterone-receptor negative (PR-) if it does not. Around 2 out of 3 cancers will test positive for hormone receptors. Currently hormonal therapies are only designed to treat oestrogen receptor-positive cancers so ER negative but PR positive cancers are treated the same as breast cancers that are ER positive. Fortunately however, breast cancers that are progesterone receptor-positive also tend to be oestrogen receptor-positive. If a tumour is both ER and PR receptor negative hormonal therapies will not help and these cancers carry a worse prognosis. Current hormonal therapies block the conversion of other hormones in the body to oestrogen (e.g. anastrozole, letrozole also known as aromatase inhibitors) or interferes with how oestrogen binds to these receptors (e.g. tamoxifen) However, for woman who have not gone through the menopause the treatment is usually slightly different as the ovaries are the main source of oestrogen production and treatment is usually directed and blocking this. 


Other laboratory tests may be used to help determine whether or not the tumour is responding to therapy or if it has recurred. The CA15-3 tumour marker, if elevated prior to treatment, is one such laboratory test, and is used after treatment, to monitor a patient for a recurrence of breast cancer. CA 15-3 is normally produced by the breast tissue and therefore some cancer-free individuals normally have a level of this substance in their blood and/or urine. This is especially true for pregnant or breastfeeding women where the breast tissue is more active. However, because in breast cancer the cells grow and divide more rapidly, the levels of Ca15-3 may increase as the cancer gets bigger, and give a higher result than expected. However not all breast cancers cause an increase in CA15-3 and it is unlikely to be significantly raised in early stages of breast cancer as not enough of the breast tissue is involved.  Therefore, only a medical professional can evaluate whether the results of such a test are cause for concern. In general, because of these reasons, CA 15-3 is a poor screening test but an excellent surveillance test in some patients. This means thatit is unreliable for detecting cancer (as it can be elevated in patients without cancer) but can be used to follow it once it has been diagnosed. It can therefore be used in select patients to see if the cancer has spread or recurred (where the levels of CA 15-3 in the bloodstream  would be expected to increase) or to assess a response to a particular treatment.

There are additional tests that may be used in breast cancer cases, such as DNA ploidy, Ki-67 or other proliferation markers. However, these are not currently in routine use in the UK and most authorities believe that only Her-2/neu, oestrogen receptors, and progesterone receptors are beneficial. This is mainly because there is currently no treatment available that works for patients with positive results in these additional tests and also because studies have shown that they offer little information on prognosis. Some research centres use these tests for additional information in evaluating patients however most centres currently do not use them at all.

Finally, women who are at high risk for breast cancer because of family history can find out if they have the BRCA-1 or BRCA-2 gene mutation by taking a blood test. Since the BRCA genes normally help to protect a woman from developing breast cancer, a mutation in either gene indicates that the patient is at higher risk for developing the disease. Women who carry mutations in either the BRCA-1 or BRCA-2 gene face a 60-80% lifetime risk of breast cancer. It is important to remember, however, that not all individuals with the mutation develop breast cancer and that most cases of breast cancer occur in women who lack mutations in either BRCA gene. A genetic counsellor should explain the meaning of the results and offer advice about options for decreasing risk. Counselling advice should be offered both before testing takes place and after receiving test results.



                                        
                                        
    
        
            
                
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Non-Laboratory Tests
In addition to laboratory tests, there are non-laboratory tests that are equally important.

Mammography is widely recommended as a screening tool. A screening mammogram uses X-ray technology to produce an image of the breasts and can reveal breast cancer up to two years before a lump is large enough to be felt during a clinical or self-examination.

Digital mammography may yield a clearer image than a mammography in some cases.

Younger women, whose breast tissue is often too dense to show tumours clearly on the X-ray film used for a standard mammogram, may benefit from ultrasound examination or rarely, magnetic resonance imaging (MRI).

Ductal lavage –is an experimental technique in which the doctor extracts cells via a tiny tube inserted through the patient`s nipple. Trials have been undertaken in the US but more evidence will be required before it is known whether this will be a useful test for breast cancer.


For more information on mammography and other imaging technologies, go to Cancer Help UK, Breast Cancer Research and MacMillan Cancer Support.



                                        
                                        
    
        
            
                
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Overview
Cardiovascular disease (CVD) is a general term used to describe disorders that can affect your heart (cardio) and/or your blood circulation network of arteries and veins (vascular).

Most cardiovascular diseases reflect chronic conditions – conditions that develop or persist over a long period of time. However, sometimes the outcome of cardiovascular disease may be an acute event such as a heart attack or a stroke that occurs suddenly when a vessel supplying blood to the heart or brain becomes blocked.

The most popular use of the term CVD is to refer to diseases that are associated with atherosclerosis - the build up of fatty deposits in the inner walls of blood vessels. Some of the diseases due to atherosclerosis are:

Coronary artery disease (CAD) causing coronary heart disease (CHD) – disease of the blood vessels supplying the heart that may lead to:
Angina - intense chest pain relieved by rest 

Heart attack - myocardial infarction

Congestive heart failure





 Cerebrovascular disease – disease of the blood vessels supplying the brain that may lead to:
Transient ischaemic attack (TIA) or “mini-stroke”

Stroke also known as brain attack or brain infarction





Peripheral arterial disease – disease of blood vessels supplying the arms or, most often, the legs that can lead to:
Claudication - partially obstructed blood flow in arteries causing pain on exercise

Aneurysm (localised bulging or enlargement) in the aorta or other blood vessels

Gangrene - death of tissue, for example of the toes, due to reduced blood supply





Diseases that can affect the heart and blood vessels which are not due to atherosclerosis are described in our Heart Disease and Vasculitis articles. They include:

Congenital heart disease – malformation of the heart structure during development before birth

Heart valve disease, congenital before birth  or acquired later in life, disturbing normal blood flow

Cardiomyopathy – disease of the heart muscle

Myocarditis – inflammation of the heart muscle

Vasculitis – inflammation of arteries or veins

Venous thrombosis – development of  blood clots in veins

Thromboembolism – a venous clot that breaks free and blocks a blood vessel in another organ  


The World Health Organization (WHO) estimates that 17.1 million people died of CVDs each year, representing a third of all global deaths. Over 80% of CVD deaths take place in low and middle income countries. As the leading cause of death worldwide, CVD is a focus of international interest.

CVDs due to atherosclerosis occur more frequently in people who are overweight, who smoke, who do not exercise, who have high blood pressure, who have high blood cholesterol (especially high “bad” cholesterol) and/or who have diabetes.  The way your doctor may use your lifestyle and the results of laboratory tests to assess your risk of CVD is described here.

Public health initiatives commended by WHO focus on decreasing deaths from CVD by encouraging people to:

Follow a healthy diet that includes fruit and vegetables and limits salt

Avoid smoking

Exercise for at least 30 minutes every day

Maintain a healthy weight

Have their blood pressure and blood cholesterol checked

If they are diabetic, maintain good control of their blood glucose

Seek medical help immediately a heart attack or stroke is suspected




                                        
                                        
    
        
            
                

                

                
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Tests:
Overview
Cardiovascular disease (CVD) is a general term used to describe disorders that can affect your heart (cardio) and/or your blood circulation network of arteries and veins (vascular).

Most cardiovascular diseases reflect chronic conditions – conditions that develop or persist over a long period of time. However, sometimes the outcome of cardiovascular disease may be an acute event such as a heart attack or a stroke that occurs suddenly when a vessel supplying blood to the heart or brain becomes blocked.

The most popular use of the term CVD is to refer to diseases that are associated with atherosclerosis - the build up of fatty deposits in the inner walls of blood vessels. Some of the diseases due to atherosclerosis are:

Coronary artery disease (CAD) causing coronary heart disease (CHD) – disease of the blood vessels supplying the heart that may lead to:
Angina - intense chest pain relieved by rest 

Heart attack - myocardial infarction

Congestive heart failure





 Cerebrovascular disease – disease of the blood vessels supplying the brain that may lead to:
Transient ischaemic attack (TIA) or “mini-stroke”

Stroke also known as brain attack or brain infarction





Peripheral arterial disease – disease of blood vessels supplying the arms or, most often, the legs that can lead to:
Claudication - partially obstructed blood flow in arteries causing pain on exercise

Aneurysm (localised bulging or enlargement) in the aorta or other blood vessels

Gangrene - death of tissue, for example of the toes, due to reduced blood supply





Diseases that can affect the heart and blood vessels which are not due to atherosclerosis are described in our Heart Disease and Vasculitis articles. They include:

Congenital heart disease – malformation of the heart structure during development before birth

Heart valve disease, congenital before birth  or acquired later in life, disturbing normal blood flow

Cardiomyopathy – disease of the heart muscle

Myocarditis – inflammation of the heart muscle

Vasculitis – inflammation of arteries or veins

Venous thrombosis – development of  blood clots in veins

Thromboembolism – a venous clot that breaks free and blocks a blood vessel in another organ  


The World Health Organization (WHO) estimates that 17.1 million people died of CVDs each year, representing a third of all global deaths. Over 80% of CVD deaths take place in low and middle income countries. As the leading cause of death worldwide, CVD is a focus of international interest.

CVDs due to atherosclerosis occur more frequently in people who are overweight, who smoke, who do not exercise, who have high blood pressure, who have high blood cholesterol (especially high “bad” cholesterol) and/or who have diabetes.  The way your doctor may use your lifestyle and the results of laboratory tests to assess your risk of CVD is described here.

Public health initiatives commended by WHO focus on decreasing deaths from CVD by encouraging people to:

Follow a healthy diet that includes fruit and vegetables and limits salt

Avoid smoking

Exercise for at least 30 minutes every day

Maintain a healthy weight

Have their blood pressure and blood cholesterol checked

If they are diabetic, maintain good control of their blood glucose

Seek medical help immediately a heart attack or stroke is suspected




                                        
                                        
    
        
            
                

                

                
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info:
Overview
Congestive heart failure (CHF) or congestive cardiac failure (CCF) occurs when the heart can no longer pump blood well enough. It is common in older people as the heart may become less efficient with ageing. It causes fluid to build up mainly in the liver, lungs, hands, and feet. The legs and ankles may develop swelling which becomes worse when the person stands and improves when they lie down. If the lungs are involved, fluid accumulation can cause shortness of breath and coughing. This may happen during exercise such as walking up stairs or when lying down flat in bed.
 CHF may occur in those who have had a previous heart attack or have high blood pressure, narrowed arteries to the heart or other types of heart disease.
 A combination of tests may be used to diagnose the condition, including a physical examination, echocardiogram (ECG), and chest x-ray.
 Laboratory tests may include urine testing (urinalysis) and blood tests to check on salt balance and kidney function.
 Symptoms of kidney disease are similar to those of CHF. A new blood test is available for use in helping to diagnose CHF called BNPor brain natriuretic peptide. BNP is a substance produced, not by the brain, but by the left main pumping chamber of the heart. Levels of BNP are raised in CHF, and this test may be used to decide which patients should have further investigations.
 CHF is usually a progressive disease.

Treatment is aimed at stabilising the condition and treating the symptoms. This usually includes controlling salt intake and water balance and eliminating smoking and alcohol. Regulating these external problems will also help control blood pressure.



                                        
                                        
    
        
            
                

                

                
                    <a title=``

Tests:
Overview
Congestive heart failure (CHF) or congestive cardiac failure (CCF) occurs when the heart can no longer pump blood well enough. It is common in older people as the heart may become less efficient with ageing. It causes fluid to build up mainly in the liver, lungs, hands, and feet. The legs and ankles may develop swelling which becomes worse when the person stands and improves when they lie down. If the lungs are involved, fluid accumulation can cause shortness of breath and coughing. This may happen during exercise such as walking up stairs or when lying down flat in bed.
 CHF may occur in those who have had a previous heart attack or have high blood pressure, narrowed arteries to the heart or other types of heart disease.
 A combination of tests may be used to diagnose the condition, including a physical examination, echocardiogram (ECG), and chest x-ray.
 Laboratory tests may include urine testing (urinalysis) and blood tests to check on salt balance and kidney function.
 Symptoms of kidney disease are similar to those of CHF. A new blood test is available for use in helping to diagnose CHF called BNPor brain natriuretic peptide. BNP is a substance produced, not by the brain, but by the left main pumping chamber of the heart. Levels of BNP are raised in CHF, and this test may be used to decide which patients should have further investigations.
 CHF is usually a progressive disease.

Treatment is aimed at stabilising the condition and treating the symptoms. This usually includes controlling salt intake and water balance and eliminating smoking and alcohol. Regulating these external problems will also help control blood pressure.



                                        
                                        
    
        
            
                

                

                
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info:
What is it?
Cancer of the uterine cervix (cervical cancer) is caused by an uncontrolled growth of cells in the cervix. The cervix is the narrowed lower portion of a woman’s uterus (womb). It is shaped like a cone and connects the uterus to the vagina. The uterine cervix is often referred to as the neck of the womb.

Since the introduction of the cervical screening programme in the UK, rates of cervical cancer have decreased.  Cervical cancer is now the eleventh most common type of cancer in women in the UK and accounts for 2% of all new cancer cases in women. However, in developing nations without screening programmes cervical cancer is still a very serious health problem and cervical cancer continues to be the second most common type of cancer in women worldwide (after breast cancer).

Vaccination against HPV was introduced in the UK in 2008, but it will be many years before this reduces cervical cancer incidence further.  Vaccination does not prevent all types of cervical cancer so vaccinated women are still advised to undergo regular screening.

Almost all (80-90%) of cervical cancers are squamous cell carcinomas. These occur in the flattened cells that cover the cervix, known as squamous cells. Most other cases are adenocarcinomas, rising from glandular cells of the upper cervix. A few cervical cancers are mixtures of both types.

Cervical cancer often has a pre-cancerous stage with abnormal changes in the cells of the cervix. These changes are termed “dyskaryosis” if detected on a liquid based cytology test (LBC) or cervical intraepithelial neoplasia (CIN) if detected on a biopsy. If left untreated, dyskaryosis or CIN may progress to cervical cancer. With early detection, cervical cancer is usually easily treatable.

Early detection and treatment can prevent cervical cancer, but the LBC screening test is not perfect and will not detect pre-cancerous states or cancer in all cases. If left untreated cervical cancer is almost always fatal. Given time, cervical cancer can spread to the rest of the uterus, bladder, rectum, and abdominal wall. It may involve the pelvic lymph nodes and may then spread (metastasise) to other organs throughout the body. 



                                        
                                        
    
        
            
                

                

                
                    <a title=``

Sym:
Risk Factors
Human papillomavirus (HPV) (Wart virus) infection is the most important risk factor for cervical cancer. HPV is linked with around 95% of all cases of cervical cancer. HPV is a group of over 90 viruses that cause warts in a variety of places on the body, including the cervix.  However, only some types are known to cause cervical cancer. The types that affect the cervix, vagina and vulva are usually spread sexually.

Types of HPV are divided into ``high risk`` and ``low risk`` categories based on their association with cervical cancer. HPV 16, 18, 31, and 33 are considered ``high risk`` because they have been linked with an increased risk for cervical, vaginal and vulval cancer.  Other types such as HPV 6 and HPV 11 cause most cases of genital warts but are considered ``low risk`` because they rarely lead to cancer.

Women who have many sexual partners or women who started having sex at a young age are more likely to get cervical cancer. This is true because such activities increase the likelihood of picking up an infection with a “high risk” human papilloma virus (HPV). It is not correct to say that women who get cervical cancer have it because they were promiscuous (slept around). A woman could have only slept with one man and still caught the virus if he was infected.  In addition, not all women with cervical cancer have HPV virus infection.

Weakening of the immune system through smoking, poor diet or other infections (including HIV/AIDS) may increase the risk of cervical cancer. Cigarette smoking suppresses the immune system and may damage the DNA in the cells of the cervix. Smokers are about twice as likely as non-smokers to get cervical cancer.



                                        
                                        
    
        
            
                
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Tests:
Symptoms
Precancerous changes in the cervix (CIN) usually do not cause any symptoms. By the time a woman notices symptoms, such as increased vaginal discharge and/or abnormal bleeding between menstrual periods or after intercourse, invasive cancer has usually developed and may have already spread to nearby tissues.

There are many conditions other than cancer that can cause abnormal vaginal bleeding and discharge. It is important to see your doctor for preventative screening and to determine the cause of any symptoms you may have.



                                        
                                        
    
        
            
                
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What is it?
Cystic fibrosis (CF) is a relatively common inherited disease. In the absence of treatment, from infancy those with CF have recurring chest infections causing progressive lung damage, intestinal malabsorption leading to severe malnutrition and growth failure. There is an excess of salt in the sweat. Without treatment, CF usually causes death during infancy or early childhood.

The disease is caused by mutations in a pair of genes on chromosome 7. Every cell in the body (except the sex cells) has 46 chromosomes (23 pairs, one half inherited from the mother and the other half from the father). Genes on these chromosomes form the body’s blueprint for producing proteins that control body functions. There is a gene on each number 7 chromosome that is responsible for the production of a protein called cystic fibrosis transmembrane regulator (CFTR). Mutations in this gene lead to absent or defective CFTR production, which then causes CF. More than 1,500 different CF mutations have been identified, although some are much more common than others, DF 508 being the most common.

Since CF is recessive, an affected individual must have a mutation in each CFTR gene on each chromosome 7 in order to have the disease (one abnormal copy from each parent). An individual with one normal copy of the gene and one abnormal copy will be a CF carrier. Carriers do not have symptoms and are not ill, but they may pass their abnormal copy of the gene on to their children. Both parents of an affected infant must have the CF gene (be carriers or have CF themselves) for their child to have CF. White people from Northern Europe and Ashkenazi Jews have the highest population carrier rates (about 1 in 20-25).

Having CF means the absence of or defective production and function of CFTR. This leads to abnormal salt and water movement in and out of the epithelial cells with thick, sticky mucus in the lungs and pancreas leading to chest infections and/or blockages in the pancreatic and liver ducts leading to poor fat and protein digestion. The majority of males with CF are also infertile due to missing or underdeveloped vas deferens, the tubules that transport sperm from the testes. Most people with CF will develop respiratory and pancreatic symptoms very early in their life, although symptom severity will vary from person to person, even in those with the same mutations.

CF is one of the most common recessive genetic disorders in Europe. Currently, there is no prevention or cure, only treatment of the symptoms. However, research is being conducted to develop a cure and to enhance treatments. In fact, great strides have been made over the past 30 years, which are allowing people with CF to live longer lives of improved quality. The median survival in the UK is now over 43 years.



                                        
                                        
    
        
            
                

                

                
                    <a title=``

Sym:
Signs and Symptoms
CF interferes with electrolyte and fluid balances in the body. In most CF patients, sweat is up to five times saltier than normal and severe salt depletion can occur in very hot weather.

Much of the disease associated with CF is due to chest infections and lung complications. From early childhood the abnormal composition of the fluid lining the airways makes them prone to infection. The lubricating mucus in the lungs becomes thick and sticky, leading to chronic infections, severe inflammation and eventual lung damage. However, with early diagnosis through neonatal screening, early recognition of infection and aggressive treatment of the infections using oral, inhaled and intravenous antibiotics, chronic infection can be delayed or even prevented in many of those affected.

The excessively thick secretion lining the pancreatic ducts leads to obstruction and extensive destruction of pancreatic tissue even before birth. The resulting deficiency of pancreatic enzymes and bicarbonate causes severe intestinal malabsorption of fat and protein and fat-soluble vitamins with foul-smelling, greasy stools. Nutritional support with oral high energy supplements, pancreatic enzyme replacement therapy and supplements of fat-soluble vitamins A, D, E and K can, in many patients, achieve near normal absorption, nutritional state and growth. Although over half of those affected survive into their forties, many develop diabetes mellitus, and some have osteoporosis.

Other problems and symptoms associated with CF include:

Meconium ileus (no stools in the first 24 to 48 hours of life) – intestinal obstruction due to viscid bowel contents, affecting some 15% of newborns with CF

Jaundice due to biliary cirrhosis caused by blocked bile ducts in the liver

Inadequate weight gain, suboptimal growth, delayed puberty and eventual below average stature due to intestinal malabsorption

Recurrent pancreatitis, particularly in the 10-15% with some remaining pancreatic function

Growths (polyps) in the nasal passages

Enlargement or rounding (clubbing) of the fingertips and toes due to a chronic reduced oxygen environment from lung involvement

Rectal prolapse (protrusion of the rectum through the anus)

Male infertility




                                        
                                        
    
        
            
                
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Tests:
Tests
CF Gene Mutation. Following recent recommendations from several major health organisations, a panel of 25 common mutations of the CF gene has been developed to screen general or targeted populations for CF and CF carrier status. (Some laboratories have larger panels of 30-88 mutations.) These panels check the patient’s DNA for each of the selected CF mutations. If two CF mutations are identified, then the patient has CF; if one is located, the patient is either a carrier or has CF with the second mutation unidentified. Further clinical assessment, genetic testing and a sweat test may be performed. If the patient tests negative for the 25 mutations and is asymptomatic, then the chances are that they do not have CF, but there is still a slight risk of them being a carrier of a rare mutation.

The Sweat Test. This test involves measuring sodium and chloride from a sweat sample collected by a special procedure in which local sweating is stimulated by pilocarpine, the sweat collected on weighed filter paper and the concentrations of sodium and chloride measured. Since the CFTR protein is altered or missing and chloride travel is restricted, the sweat in a CF person may be up to five times saltier than normal. Positives should be confirmed and followed with CF gene mutation testing. Some people with CF will be diagnosed using only sweat testing, and a few very rare patients with definite CF, often with unusual mutations, may have sweat sodium and chloride levels within the normal range.

Faecal chymotrypsin. This is a stool test for proteolytic enzymes, produced in an inactive form in the pancreas and then activated in the small intestine to digest food proteins. Low values indicate pancreatic insufficiency in untreated people with CF; in patients on pancreatic enzyme replacement therapy values are usually normal but do not correlate closely with the amount of fat in the stools. This test has now been replaced by faecal pancreatic elastase1.

Faecal Pancreatic Elastase 1. This is a specific human protease produced by the pancreas. Values determined on a small faecal specimen clearly differentiate between sufficient and insufficient pancreatic function and are not influenced by pancreatic enzyme treatment. This is now the best indirect measure of pancreatic function and it has replaced a number of indirect pancreatic function tests including the bentiromide and pancreolauryl tests.

Immunoreactive Trypsin (IRT). This newborn screening test for CF is measured using the blood spots collected on Guthrie screening cards. In CF, thick mucus plugs can obstruct pancreatic ducts and prevent trypsinogen from reaching the intestine. Blood IRT levels will be elevated in newborns with CF, and a raised second IRT usually combined with DNA testing is used in many countries for neonatal CF screening. Persistently raised blood IRT values after the newborn period usually indicate that the infant has CF. Early diagnosis is essential so that treatment can be started before damage to the lungs with chronic infection and malnutrition become established.

Other laboratory tests used to check lung infection, organ function and fertility include:

Throat swab and sputum cultures

Faecal fat microscopy and measurement

Serum electrolytes

Liver function tests

Fat soluble vitamin levels

Immunoglobulins including IgE

IgE antibody test for aspergillus fumigatus

Pseudomonas antibodies

Semen analysis


Non-laboratory tests that may be done include lung function tests, chest X-rays, lung scans, bronchoscopies, bone scans, upper GI and small bowel X-rays and other gastrointestinal pancreatic and liver investigations.



                                        
                                        
    
        
            
                
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Overview
There are more than 20 known sexually transmitted diseases (STDs). Some of them will cause symptoms that should be brought to the attention of a doctor immediately. However, some of these STDs can be ``silent`` — a person could have the disease but might not notice any symptoms of the infection. Therefore, it is important to be tested for STDs if you take part in unprotected oral, genital, or anal sex.

The most common STDs are listed below:

Gonorrhoea. This bacterial infection at first may cause a slight discharge from the vagina, penis, or anus. However, 50% of women and 10% of men with gonorrhoea have no symptoms at all. If the infection is not treated, it can lead to sterility and other complications. Gonorrhoea can be treated with antibiotics. 

Chlamydia. Chlamydia trachomatis is often called ``the silent epidemic`` because infections are common yet many people do not realize that they are infected. Only one in four of infected people have symptoms of a slight discharge and stinging on passing urine. It is the commonest STD in the UK. This bacterial disease is easily cured with antibiotics but can have serious health consequences if left untreated. 

Syphilis. Syphilis is a bacterial infection that can be easily missed. The first symptom is a painless blister or sore that will disappear on its own, but the infection can be passed on to others for up to eighteen months. Syphilis can be treated with antibiotics. However, if left untreated, the disease can spread throughout your body over the course of many years and cause considerable organ damage. 

Trichomonas. Trichomonas vaginalis is a microscopic parasite that may or may not cause symptoms of watery discharge and stinging on passing water. Treatment is available. 

Human papillomavirus (HPV). This virus can infect the genital area, causing genital warts (condylomata). Some types of the virus have been associated with cervical cancer. Early detection with cervical smear testing can limit the risk of cancer. 

Genital herpes. This virus causes recurrent, periodic outbreaks of sores in the genital region and remains in your body for life. However, there are anti-viral therapies available that can shorten the duration of symptoms. 

Hepatitis B and Hepatitis C. These are viral infections that can be transmitted through sexual contact. Hepatitis B and C affect the liver and can severely damage it. Treatment with interferon is available, but this drug therapy may have serious side effects. 

Human Immunodeficiency Virus (HIV). HIV is associated with AIDS. This virus attacks and destroys certain white blood cells (T-helper lymphocytes) that are involved in the immune system. As the number of these cells is reduced, the ability of your body to fight off infections also decreases. This eventually results in death. Although there is no cure, early detection allows for treatment with anti-viral therapies that can help to prolong life.


You can refer yourself to any Sexual Health Clinic in the UK to receive free, confidential testing and treatment. Your GP is not informed without your permission. For any sexually transmitted disease, an infected person should inform their recent sexual partner(s) so that they may be treated as well. Clinic staff will advise you how best to do this, but it is not compulsory.



                                        
                                        
    
        
            
                

                

                
                    <a title=``

Tests:
Overview
There are more than 20 known sexually transmitted diseases (STDs). Some of them will cause symptoms that should be brought to the attention of a doctor immediately. However, some of these STDs can be ``silent`` — a person could have the disease but might not notice any symptoms of the infection. Therefore, it is important to be tested for STDs if you take part in unprotected oral, genital, or anal sex.

The most common STDs are listed below:

Gonorrhoea. This bacterial infection at first may cause a slight discharge from the vagina, penis, or anus. However, 50% of women and 10% of men with gonorrhoea have no symptoms at all. If the infection is not treated, it can lead to sterility and other complications. Gonorrhoea can be treated with antibiotics. 

Chlamydia. Chlamydia trachomatis is often called ``the silent epidemic`` because infections are common yet many people do not realize that they are infected. Only one in four of infected people have symptoms of a slight discharge and stinging on passing urine. It is the commonest STD in the UK. This bacterial disease is easily cured with antibiotics but can have serious health consequences if left untreated. 

Syphilis. Syphilis is a bacterial infection that can be easily missed. The first symptom is a painless blister or sore that will disappear on its own, but the infection can be passed on to others for up to eighteen months. Syphilis can be treated with antibiotics. However, if left untreated, the disease can spread throughout your body over the course of many years and cause considerable organ damage. 

Trichomonas. Trichomonas vaginalis is a microscopic parasite that may or may not cause symptoms of watery discharge and stinging on passing water. Treatment is available. 

Human papillomavirus (HPV). This virus can infect the genital area, causing genital warts (condylomata). Some types of the virus have been associated with cervical cancer. Early detection with cervical smear testing can limit the risk of cancer. 

Genital herpes. This virus causes recurrent, periodic outbreaks of sores in the genital region and remains in your body for life. However, there are anti-viral therapies available that can shorten the duration of symptoms. 

Hepatitis B and Hepatitis C. These are viral infections that can be transmitted through sexual contact. Hepatitis B and C affect the liver and can severely damage it. Treatment with interferon is available, but this drug therapy may have serious side effects. 

Human Immunodeficiency Virus (HIV). HIV is associated with AIDS. This virus attacks and destroys certain white blood cells (T-helper lymphocytes) that are involved in the immune system. As the number of these cells is reduced, the ability of your body to fight off infections also decreases. This eventually results in death. Although there is no cure, early detection allows for treatment with anti-viral therapies that can help to prolong life.


You can refer yourself to any Sexual Health Clinic in the UK to receive free, confidential testing and treatment. Your GP is not informed without your permission. For any sexually transmitted disease, an infected person should inform their recent sexual partner(s) so that they may be treated as well. Clinic staff will advise you how best to do this, but it is not compulsory.



                                        
                                        
    
        
            
                

                

                
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info:
Also known as: CFS; Chronic Fatigue and Immune Dysfunction Syndrome; CFIDS; Myalgic Encephalomyelitis; ME


                                                
                                            

What is chronic fatigue syndrome?
Extreme, debilitating exhaustion is the hallmark of chronic fatigue syndrome (CFS). People with CFS sleep poorly and awake unrefreshed. They have frequent headaches, muscle and joint pain, recurring sore throats, and memory and concentration problems. The intensity and type of symptoms can vary from day to day and from person to person. On a ``good day`` symptoms may be mild, and someone with CFS may be able to function at a near normal level. On a ``bad day,`` they may be unable to get out of bed. Their condition is not improved by bed rest and can be worsened by mental activity.

Once dismissed as ``yuppie flu`` – a form of depression, stress and burnout common in young, upper income white women – CFS is now known to exist worldwide in every age, income bracket, and ethnic group, and in both sexes. CFS is about four times more common in women than in men, but that may be because women are more likely to report their symptoms to a doctor and it appears to be most prevalent in the 40 to 60 year age range.

The weariness, pain, and numerous other symptoms associated with CFS can frustrate both patient and physician. Because they do not cause visible and/or measurable abnormalities, it can be hard for friends, family and the public to understand the painful challenges faced by a person with CFS. It has also led to lingering skepticism about the existence of CFS despite the fact that all major health organisations now recognise it as a distinct medical condition. Some doctors attribute their patients` symptoms to depression or stress, or believe that they are simply symptoms of another, as yet undiagnosed, disease or disorder. Depression is a common consequence of CFS, but it is not a cause.

A large number of other diseases, disorders, and temporary conditions can cause or display similar symptoms or side effects. These include hypothyroidism, mononucleosis, psychological disorders, eating disorders, cancer, autoimmune disease, infections, drug or alcohol abuse, reactions to prescription medications, and – for whatever reason – insufficient uninterrupted sleep. In these cases, an underlying reason for the fatigue can be established and often treated. This temporary, short-term, or long-term fatigue must be distinguished from CFS.



                                        
                                        
    
        
            
                

                

                
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Signs and Symptoms
The problem that researchers, doctors, and patients face in identifying and diagnosing CFS is that its cause is unknown and symptoms may be invisible and unmeasurable. For many years, CFS was simply defined as an idiopathic chronic fatigue (fatigue of unknown origin). NICE guidance states that healthcare professionals should consider the possibility of CFS if a person has:

fatigue with all of the following features:

- new or had a specific onset (that is, it is not lifelong)
 - persistent and/or recurrent
 - unexplained by other conditions
 - has resulted in a substantial reduction in activity level
 - characterised by post-exertional malaise and/or fatigue (typically delayed, for example by at least 24 hours, with slow recovery over several days)

and

one or more of the following symptoms

- difficulty with sleeping such as insomnia, hypersomnia, unrefreshing sleep, a disturbed sleep-wake cycle
 - muscle and/or joint pain that is multi site and without evidence of inflammation
 - headaches
 - painful lymph nodes without pathological enlargement
 - sore throat
 - cognitive dysfunction, such as difficulty thinking, inability to concentrate, impairment of short term memory, and difficulties with word finding, planning/organising thoughts and information processing
 - physical or mental exertion makes symptoms worse
 - general malaise or ‘flu-like’ symptoms
 - dizziness and/or nausea
 - palpitations in the absence of identified cardiac pathology

However, the symptoms of CFS fluctuate in severity and may change in nature over time.

There is still no consensus as to a cause. While a single cause may yet be identified, many researchers believe that CFS has multiple triggers. These include:

Viral infection such as Epstein Barr virus, although no microorganism has been isolated as the instigator

Immune dysfunction provoked by trauma, stress, or allergy, which in turn triggers CFS

Nutritional deficiency

Abnormally low blood pressure (neurally mediated hypotension) that can cause fainting

Stress that activates the hypothalamus-pituitary axis (HPA) where the hypothalamus, pituitary and adrenal glands interact

While most researchers agree that CFS is not contagious, they have observed family patterns and believe there may be a tendency to an inherited predisposition to the condition. Some investigators feel that further research will reveal that CFS is not a single condition at all but a group of different disorders with a similar end point.

It is known that those affected by CFS have a definite onset of symptoms, that is, a time before which they felt well and had the energy for normal daily tasks. About 75% of the time, CFS is preceded by what appears to be a flu-like illness. Other cases of CFS arise following a period of intense physical or emotional stress, and some emerge slowly with those affected noticing a gradual decline in their energy and sense of well-being.

Besides the primary symptoms of CFS, a variety of other symptoms are common. These include:

Abdominal pain

Allergies and sensitivities to foods, odours, chemicals, medication and sound

Bloating

Chest pain

Chills and night sweats

Chronic cough

Depression and anxiety

Irritable bowel or diarrhoea

Dry eyes or mouth

Earaches

Irregular heartbeat

Jaw pain

Low grade fever

Morning stiffness

Nausea and loss of appetite

Numbness, tingling or burning sensation in the face hands or feet

Shortness of breath



                                        
                                        
    
        
            
                
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Tests:
Tests
At this time, there is no blood test, brain scan, or other test to diagnose CFS. It is diagnosed by exclusion through:

Documenting the patient`s medical history

Performing a thorough medical examination

Ruling out other conditions that may be causing or exacerbating the fatigue

Fulfilling NICE criteria for the definition of CFS

Monitoring the patient over time to see if other underlying conditions arise

Laboratory tests can be useful to help diagnose and manage other conditions with similar symptoms and disorders that must be identified and treated before a diagnosis of CFS can be made. The CDC recommends a few general tests, bulleted in the


info:
What is cirrhosis?
Cirrhosis is severe scarring of the liver caused by chronic liver disease. As healthy liver tissue is damaged over a long period of time, it is replaced by scar tissue, affecting the structure of the liver and decreasing its ability to function. Cirrhosis is seen with a variety of chronic liver diseases and may take years or even decades to develop. Unlike scars in other parts of the body, some of the scarring that occurs in the liver is reversible, even in people with cirrhosis; it is difficult to tell which scars can be removed and which will be permanent.

The liver is a vital organ located in the upper right-hand side of the abdomen. Among other functions, it helps convert nutrients from food into essential blood components, produces many of the factors necessary for normal blood clotting, metabolises and detoxifies substances that would otherwise be harmful to the body, and produces bile – a fluid necessary for the digestion of fats.

Liver diseases can affect any of these critical functions. These diseases may be the result of infection, injury, exposure to a toxin, an autoimmune process, or due to a genetic defect that leads to the build-up of substances such as copper or iron. The damage that liver diseases cause can lead to inflammation, obstruction,and clotting abnormalities. Prolonged and persistent damage can lead to the accumulation of excess connective tissue, or fibrosis of the liver. Fibrosis can lead to cirrhosis.

With cirrhosis, the structure of the liver changes, forming nodules of cells surrounded by fibrous tissue. This tissue does not function like healthy liver tissue and can interfere with the flow of blood and (rarely) bile through the liver. As cirrhosis progresses, it can begin to affect other organs and tissues throughout the body. Some examples of these effects and complications include:

An increase in pressure in the vein that carries blood to the liver; this is called portal hypertension.

Swelling and bleeding of the veins in the oesophagus and/or stomach (oesophageal and/or gastric varices) due to the increased pressure from portal hypertension and the redirection of blood into these smaller veins

An increase in toxins in the blood, which can cause confusion and other mental changes (hepatic encephalopathy)

Ascites – a build-up of fluid in the abdomen (peritoneal cavity)

Kidney dysfunction (hepatorenal syndrome)

Decline in clotting factor production, which can cause easy bleeding and bruising


Individuals with cirrhosis are also at increased risk of developing liver cancer (hepatocellular carcinoma). This is estimated to occur in 3-5% of patients with cirrhosis each year, and multiple cancers can form over time.



                                        
                                        
    
        
            
                

                

                
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Causes
When injury to the liver is acute or liver damage is limited, the liver can usually repair itself. It is usually not short-term damage that causes cirrhosis, but repeated injury or damage occurring over many years that can lead to the development of cirrhosis. Causes are wide-ranging but generally fall into one of several categories:

Alcoholic—excessive alcohol use over time can lead to alcoholic liver disease and cirrhosis.

Associated with hepatitis, such as viral hepatitis, autoimmune hepatitis and non-alcoholic fatty liver disease (NAFLD)

Biliary—obstruction and/or damage to bile ducts

Cardiac—congestive heart failure over time can cause liver damage and cirrhosis

Metabolic or inherited—these include diseases such as cystic fibrosis, haemochromatosis, Wilson’s disease, alpha-1 antitrypsin deficiency and Fanconi syndrome

Drug-related (other than alcohol)

Unknown—in about 10% of cases of cirrhosis, the cause is not known.


The frequency of these causes varies by population and geographic region. In the United States, about half of the cases of cirrhosis are caused by chronic hepatitis C infection and/or by chronic alcohol abuse (alcoholism). Chronic hepatitis B infection (sometimes with hepatitis D co-infection) causes a significant number of cases – and is one of the major causes in many parts of the world. Non-alcoholic fatty liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH) are significant non-infectious causes of cirrhosis, and the frequency of this cause is increasing while cases due to most other causes are remaining the same or decreasing.



                                        
                                        
    
        
            
                
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Symptoms
Many of those who have cirrhosis have few to no symptoms. The liver compensates for some damage, and symptoms may not emerge until significant scarring is present. Symptoms may be nonspecific and include:

Fatigue

Weakness

Confusion and difficulty concentrating

Abdominal discomfort

Itching

Abdominal swelling (from fluid build-up, ascites)

Jaundice

Easy bleeding and bruising




                                        
                                        
    
        
            
                
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Also known as: Coeliac Sprue, Gluten-Sensitive Enteropathy, non-tropical sprue


                                                
                                            

What is it?
Coeliac disease is an autoimmune disease. Gluten, a protein found in products made from wheat, barley, rye and oats reacts with the lining of the gut in this condition, causing damage and preventing normal absorption of food. In mild cases, it may be difficult to diagnose, but when severe can cause evidence of malnutrition (weight loss in adults, growth delay and failure to gain weight in children) and malabsorption (diarrhoea and foul smelling bowel motions that float and have a greasy appearance).

 Found throughout the world, coeliac disease is most prevalent in those of European descent. It occurs in about 1 of every 100 individuals in Europe and can affect anyone at any age, but is more common in infants and in those in their 30s and 40s. In infants, coeliac disease may become apparent when the child moves from milk to solid feeds. It is more common in women than men. The development of coeliac disease is thought to be due to an inherited tendency that is triggered by an environmental, emotional, or physical event – although the exact mechanism is not fully understood.



                                        
                                        
    
        
            
                

                

                
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Signs and Symptoms
Symptoms vary widely from person to person and may be mild, or even absent.

Signs and symptoms of coeliac disease include:

Abdominal pain and distension

Iron-deficiency anaemia that does not respond to iron supplements

Bleeding tendency

Bloody stool

Bone and joint pain

Changes in dental enamel

Diarrhoea

Fatigue

Flatulence

Greasy foul-smelling stools

Mouth ulcers

Vomiting

Weakness

Weight loss

Patients with coeliac disease will not typically have all of these symptoms, but may have a selection from this list. These symptoms are present in a variety of other conditions, and so a diagnosis of coeliac disease may be missed or delayed -- sometimes for years. Children with coeliac disease may experience failure to thrive, delayed growth and development, delayed onset of puberty, and short stature. Adults with coeliac disease may also experience infertility. Some patients with coeliac disease have dermatitis herpetiformis, a disease that causes itchy blisters on the skin. There is also an increased risk for developing osteoporosis and intestinal lymphoma, a form of cancer.



                                        
                                        
    
        
            
                
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Tests:
Tests
A number of autoantibodies not normally present in the blood may be detected in sufferers of this condition:

Anti-tissue Transglutaminase Antibody (tTG): Tissue transglutaminase is an enzyme responsible for crosslinking (joining) certain proteins, and is found in the gut as well as in other tissues. It has been identified as the target molecule for the anti-endomysial antibodies. Although “tissue” is in the name of this autoantibody, it nevertheless involves testing blood and not tissue. 

Anti-Endomysial Antibodies (EMA): Endomysium is the thin connective tissue layer that covers individual muscle fibres. Anti-endomysial antibodies develop as part of the ongoing damage to the intestinal lining. 

Anti-gliadin and anti-reticulin antibodies are autoantibodies that have been used to evaluate suspected coeliac disease in the past. However these tests have both been superceded by anti-EMA and anti-tTG antibodies, and are no longer used in the UK.

There are 5 types of antibody (IgG, IgA, IgM, IgD and IgE) in the body. Both IgG and IgA types of each autoantibody will often be present in the blood, and may be tested for. In many laboratories IgA antibodies are used as the first line test for coeliac disease, with other antibody tests being performed only when required.

In the UK, the National Institute for Health and Clinical Excellence (NICE) recommends serological testing for IgA tTG as first choice, followed by IgA EMA testing if the result is equivocal. If both tests are negative, IgA deficiency should be tested for before moving on to IgG serological tests if this is the case.

In the past, the only way to diagnose coeliac disease was to take a biopsy (small piece of tissue) from the small intestine and to examine it under the microscope. This method is still used to confirm a diagnosis of coeliac disease, but the availability of less invasive blood tests used to screen for coeliac disease has reduced the number of biopsies required for this purpose.

People should continue to follow a gluten containing diet during the diagnostic process; otherwise the accuracy of both serological tests and biopsies may be adversely affected.

Genetic markers that are strongly associated with coeliac disease exist, and include the Human Leukocyte Antigen (HLA) markers DQ2 and DQ8. Testing for these markers is not routinely available, but research into their use is ongoing.

Other tests used to evaluate the severity of the disease include:

FBC (full blood count) to look for anaemia

ESR (erythrocyte sedimentation rate) to evaluate inflammation

CRP (C-Reactive protein), a more sensitive measure of inflammation

Biochemistry testing to determine sodium, potassium, calcium, and protein concentrations, and to check kidney and liver function

Iron, folate, ferritin, Vitamins D, E and B12, to check for mineral and vitamin deficiencies



                                        
                                        
    
        
            
                
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Also known as: CAH; 21-hydroxylase Deficiency 


                                                
                                            

What is congenital adrenal hyperplasia?
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders of the adrenal gland, small triangular organs located on top of the kidneys that secrete hormones. CAH is associated with deficiencies in the enzymes required for the production of the steroid hormones cortisol and/or aldosterone.

In the adrenal gland, cholesterol is turned into a precursor called pregnenolone and then several enzymes complete the production of aldosterone, cortisol, and androgens. If one or more of these enzymes is deficient or dysfunctional, then inadequate amounts of the final products are produced. Because low concentrations of cortisol cause  a pituitary hormone that stimulates adrenal growth and hormone production (adrenocorticotropic hormone, or ACTH) to become elevated, the adrenal gland increases in size (CAH). However, the increased size and activity cannot overcome the block in cortisol production. Other substances (such as 17-hydroxyprogesterone) that do not need the defective enzyme will be produced in excess. The vast majority of CAH cases are due to a deficiency in the enzyme 21-hydroxylase, so this type will be the main focus of this article.

With CAH, the enzyme deficiency can cause a decrease in cortisol concentration and/or aldosterone and, in some cases, an increase in androgens, a group of ``male hormones.`` Excess androgens can result in the development of male sexual characteristics in females (virilization), which is often noticed at birth. A baby girl`s external sex organs may be ambiguous: her genitals may resemble a boy`s anatomy or be somewhere in between a boy`s and a girl`s anatomy. While it is a rare disorder, CAH is the most common cause of ambiguous external sex organs (genitals) in newborns.

Males with this condition will appear normal at birth but may start to develop sexual characteristics of puberty in early childhood. Females may develop excess hair on the face and body (hirsutism) and other male secondary sexual characteristic during childhood and adolescence and have irregular menstruation. CAH may also lead to infertility in adults.

CAH enzyme deficiencies are due to mutations in specific genes. They are autosomal recessive, which means that it takes two copies of the gene mutation, one inherited from each parent, before a person will be affected by CAH. A person with one copy will be a carrier but will not typically have any symptoms.

About 90% of CAH cases are due to a 21-hydroxylase deficiency, which is caused by a mutation in the CYP21A2 gene. Those affected may have a classic (more severe) or nonclassic (less severe) type. About 75% of those with a classic deficiency will have a ``salt-wasting`` form that includes decreased aldosterone and leads to an excess loss of fluids, low sodium, and high potassium that, when severe, can be life-threatening.

The National Institute of Child Health and Human Development in the United States estimates that classic CAH affects about one in 15,000 babies worldwide, while non-classical CAH affects about one in 1,000 people. CAH can occur in people of all ethnicities but is more common among Ashkenazi Jews, Yupik Eskimos, and those of Hispanic, Slavic, or Italian descent.

Several other rare inherited enzyme deficiencies can also cause CAH. Of these, 11-beta-hydroxylase deficiency is the most common, accounting for about 5-8% of CAH cases, and 17-alpha-hydroxylase and 3 beta-hydroxysteroid dehydrogenase are less common. The signs and symptoms that are experienced by males and females with CAH will depend upon which enzymes are deficient and the severity of the deficiencies. For more information on these less common types of CAH, see the links on the Related Pages page.



                                        
                                        
    
        
            
                

                

                
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Sym:
Signs and Symptoms
Symptoms associated with congenital adrenal hyperplasia (CAH) depend upon the type of enzyme deficiency and the amounts of cortisol, aldosterone, and androgens that are produced. Symptoms may vary over time and can worsen with illness and stress.

Those associated with the form of classic 21-hydroxylase deficiency CAH that causes excess loss of fluids and salt (``salt-wasting``) can lead to a life-threatening adrenal crisis.

Salt-wasting CAH signs and symptoms may include:

Abnormal heart rhythm, rapid heart rate

Confusion

Dehydration

High potassium (hyperkalemia)

Irritability

Low blood glucose (hypoglycemia)

Low blood pressure

Low sodium (hyponatremia)

Vomiting


Females with classic 21-hydroxylase deficiency may have external sex organs that are not clearly male or female (ambiguous external genitalia) but normal reproductive organs (uterus, fallopian tubes, and ovaries).

Signs and symptoms associated with excess male hormones (androgens) in both males and females in childhood and early adolescence may include:

Accelerated skeletal growth (tall during childhood but short as adults)

Acne

Deep voice

Enlarged penis (males)

Enlargement of clitoris (females)

Excess hair on face and body (hirsutism) in females

Infertility or decreased fertility

Irregular menstruation (females)

Excess muscle growth

Early development of pubic and armpit hair




                                        
                                        
    
        
            
                
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Tests:
Tests
Laboratory Tests
 The goals with congenital adrenal hyperplasia (CAH) testing are to:

Screen all newborns for 21-hydroxylase deficiency

Help confirm the condition in those with positive newborn screens

Help diagnose the condition in those with symptoms

Identify the carrier status of a person who has a family member with 21-hydroxylase deficiency

Determine the chromosomal sex (XX or XY) of a newborn with genitals that are not clearly male or female (ambiguous genitalia)

Monitor treatment for CAH and detect overtreatment

Evaluate and monitor the health status of a person with an adrenal crisis

Detect 21-hydroxylase deficiency during pregnancy (sometimes)

Identify and/or rule out other types of CAH besides 21-hydroxlase deficiency (sometimes)


Testing may include:

Screening

Newborn screening is not currently offered in the UK as part of the national newborn screening programme

Prenatal testing with chorionic villus sampling or amniocentesis


Detect/Diagnose

17-OHP – concentrations may be greatly elevated with 21-hydroxylase deficiency

Steroid profile on a spot urine specimen – this looks at the pattern of steroids in a urine specimen, and is a very sensitive method for detecting abnormal steroid production

ACTH stimulation – measures the level of cortisol in a person`s blood before and after an injection of synthetic ACTH (Synacthen™). If the adrenal glands are functional, cortisol concentrations will rise in response to the ACTH stimulation; not performed frequently.

Additional testing may be performed when 17-OHP is elevated,, depending upon which deficiencies and accumulations of precursors are suspected; may include several of the following:

Androstenedione

Testosterone

11-deoxycortisol

Dehydroepiandrosterone sulfate (DHEAS)

17-hydroxypregnenolone

Pregnenolone


Aldosterone and renin – to determine if concentrations of these substances are normal

Chromosome analysis (karyotyping) – to determine a baby`s sex by evaluating their chromosomes (XX (female) or XY (male))

Genetic testing – performed to detect gene mutations; not usually needed for diagnosis but may be used for prenatal diagnosis of 21-hydroxylase deficiency and for detecting gene mutation(s) in family members to help determine carrier status; will detect the most common mutations. If a specific mutation has been identified in a family, testing should include that mutation.


Monitor treatment, every few months:

17-OHP in a blood spot or saliva specimen

Androstenedione

Testosterone


Health status, during illness, and to monitor

Electrolytes (especially sodium and potassium)

Aldosterone

Glucose

Urea and creatinine – to check kidney function

Liver function tests– to check liver function


Non-Laboratory Tests

Blood pressure

Pelvic ultrasonography to evaluate internal reproductive organs in females

Hand X-ray or bone-age study to evaluate rate of skeletal growth




                                        
                                        
    
        
            
                
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What is it?
Conn’s syndrome is another name for primary hyperaldosteronism, which is the most common cause of secondary hypertension (hypertension caused by something other than the working of the heart or the blood vessels) and may also be referred to as aldosteronism. It is a disease which has excessive production of aldosterone from the outer layer of the adrenal glands called the cortex. The adrenal glands are small triangular organs which sit on top of the kidneys. The glands are part of the endocrine system, a group of glands that produce and secrete hormones that act on and regulate many body functions. Aldosterone is a hormone that plays an important role in maintaining blood volume, pressure and the concentration of sodium and other electrolytes. The amount of aldosterone produced is normally regulated by renin, an enzyme made in the kidneys. When renin levels increase due to low blood pressure, reduced flow of blood to the kidneys or to sodium deficiency, aldosterone increases and when renin decreases, aldosterone decreases.

In Conn’s syndrome, very large amounts of aldosterone are produced by one or more adrenal tumours which are usually not cancerous (benign), sometimes the gland just increases in size (hyperplasia) and sometimes the reasons are unknown (idiopathic). Only rarely is the cause a cancerous adrenal tumour. Regardless of the cause, increased aldosterone can most commonly lead to low blood levels of potassium (hypokalaemia), increased blood pH (alkalosis), and hypertension. Sometimes increased aldosterone will lead to frequent need for urination (polyuria), increased thirst, muscle weakness and cramps, temporary paralysis, headaches, and tingling.Very rarely, increased aldosterone will lead to high blood levels of sodium (hypernatraemia).

The presence of hypokalaemia in a person with hypertension suggests the need to look for primary hyperaldosteronism and the reason for an increase production of aldosterone.

Diagnosing Conn’s syndrome is important because it represents one of the few causes of hypertension that are potentially curable. Although anyone can develop primary hyperaldosteronism, it is most commonly seen in adults between the ages of 30 and 50 and is more common in women than men. It can sometimes be difficult to diagnose as patients may have variable symptoms or no symptoms at all. Suspicion of Conn’s syndrome may be raised in patients who are resistant to the usual ways of treating high blood pressure (hypertension).

Secondary aldosteronism is when the adrenal glands themselves are not driving the production of aldosterone, then this happens it is not called Conn’s syndrome. It can occur as a result of anything that increases renin levels, such as decreased blood flow to the kidneys, low blood pressure, or low sodium levels in the urine. The most important cause is narrowing of the blood vessels that supply the kidney, this is called renal artery stenosis. Other causes of secondary hyperaldosteronism include congestive heart failure, cirrhosis, kidney disease, and pre-eclampsia.



                                        
                                        
    
        
            
                

                

                
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Sym:
Tests
The goal when looking for Conn’s syndrome is to understand where the aldosterone is coming from and then to find out what is driving the increase. that the conclusions made from these test may then help decide whether surgery is likely to be beneficial.
Laboratory Tests
Doctors will frequently request blood renin tests along with blood and/or 24-hour urine aldosterone tests to help diagnose primary hyperaldosteronism and to monitor the effectiveness of treatment. The ratio of aldosterone to renin is used as an early test for primary hyperaldosteronism. If renin levels are low and aldosterone high, then the ratio will be significantly increased and primary hyperaldosteronism is likely to be present.

Electrolytes, usually blood sodium, potassium and sometime chloride and bicarbonate may be measured to look for an electrolyte imbalance. If they are present, then the doctor may give the patient spironolactone, a drug that blocks the action of aldosterone, to see if balance is restored.

These tests may be followed by computed tomography (CT) a scan of the adrenal glands to look for a tumour. This process can be complicated as benign adrenal tumours are relatively common, especially as people become older. Many of these benign tumours do not produce aldosterone and are found during investigations for other reasons. Determining large adrenal glands (hyperplasia) can also be tricky because the size of normal adrenal glands varies a lot from one person to the

Tests:
Treatments
The goal of treatment of Conn’s syndrome is to lower blood pressure to normal or near normal levels, decrease blood aldosterone levels, and resolve any electrolyte imbalance. The treatment used will depend on the cause of the excess aldosterone production. If it is due to a single benign adrenal tumour, then the affected gland may be surgically removed. In many cases, this treatment will remove the hypertension and other symptoms, but in other cases other treatment will still be necessary to control blood pressure. If the primary hyperaldosteronism is due to a cancerous tumour (rare), then organs


info:
What is it?
Cushing’s syndrome is a group of signs and symptoms caused by the body producing too much cortisol from the adrenal glands.There are two adrenal glands, one on top of each kidney.  These glands are triangular in shape.  Cushing’s syndrome can also be caused by a patient taking too much of a synthetic glucocorticoid (a steroid like cortisol) for another clinical condition.

Cushing’s syndrome can occur in anyone but more commonly it occurs in adults aged 20-50 years.  It is more common in women.

There are several causes of Cushing’s syndrome:

Iatrogenic Cushing’s syndrome. Taking synthetic glucocorticoids.  These drugs, such as prednisolone and dexamethasone, act like cortisol.

Cushing’s disease. A pituitary tumour that produces large amounts of adrenocorticotrophic hormone (ACTH).

Adrenal tumour. A tumour in the adrenal gland that produces too much cortisol. 

Adrenal nodular hyperplasia. When groups of cells, or nodules, in the adrenal gland produce too much cortisol. 

Ectopic ACTH. A tumour in the body, not associated with the pituitary gland, that produces too much ACTH.  This ACTH stimulates the adrenal glands to produce too much cortisol.

Ectopic CRH. A tumour in the body, not associated with the hypothalamus, that produces too much corticotrophin releasing hormone (CRH).  This stimulates the pituitary to secrete large amounts of ACTH that in turn stimulates the adrenal glands to produce too much cortisol.

Adrenal carcinoma. Very rarely cancer in the adrenal.

In some rare cases Cushing’s syndrome may develop because of gene mutations associated with other clinical conditions. 

The first two causes of Cushing’s syndrome on this list are the most common ones.

There is a large number of symptoms and signs that can be seen with Cushing’s syndrome (see symptoms).



                                        
                                        
    
        
            
                

                

                
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Sym:
Symptoms of Cushing`s syndrome
The signs and symptoms that occur with Cushing’s syndrome depend on a number of factors that include the cause of the Cushing’s syndrome, the level of cortisol or ACTH, the age and sex of the patient.

They include obesity around the waist and also fat laid down across the shoulders and neck; arms and legs tend to be thin in relation to the body.  The face may be round and flushed and bruising is commonly present especially on the legs; wounds may heal very slowly.  There may be muscle weakness, tiredness, ‘stretch’ marks around the stomach, hips and thighs, pigmentation of the skin, particularly of scars and inside the mouth, raised blood pressure (hypertension), too much blood sugar (diabetes), fragile bones (osteoporosis).  Women usually have menstrual irregularities. Men may suffer with impotence.



                                        
                                        
    
        
            
                
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Tests:
Tests
When a doctor suspects a patient may have Cushing’s syndrome they will do one of  several possible screening tests.  If the screening test indicates the patient may have Cushing’s syndrome, other tests will be carried out.

Screening tests

A 24-hour urine test.  A positive test is when the urine contains more cortisol than normal.  The reliability of the test depends on the patient taking an accurate 24 hour urine collection.

An overnight dexamethasone test.  Whilst at home and at about 11pm the patient takes a 1mg dexamethasone tablet.  Blood for cortisol measurement is taken in outpatients the following morning.  In a normal person the dexamethasone (a synthetic cortisol-like drug) will cause the blood cortisol to be below normal in the morning.

Blood cortisol measurements at 9am and midnight.  In the normal person the cortisol level is high in the morning and low at midnight.  In the patient with Cushing’s syndrome the midnight cortisol will also be high.  This test is usually reserved for patients who are already in hospital. ACTH may also be measured on the 9am blood sample.


There are several reasons, such as drugs, anxiety and obesity, why the test may not be entirely reliable and the doctor need to carry out further tests.   If a screening test is positive further tests are carried out to determine the cause of the Cushing’s syndrome.

Further tests

ACTH.  Blood is taken at 9am.  ACTH will be low if Cushing’s syndrome is due to too much cortisol from an adrenal tumour or if the patient is taking synthetic steroids.

Extended dexamethasone test.  This test is used to distinguish ACTH from either an ectopic tumour or from a pituitary tumour.  Dexamethasone is given at different doses, four times a day, over four days.  In the healthy person, dexamethasone will suppress ACTH secretion and hence cortisol secretion (see cortisol).  Ectopic ACTH production will not normally suppress with high doses of dexamethasone whereas ACTH from a pituitary tumour usually does.

CRH test.  An injection of CRH is given and blood samples are taken immediately before the injection and 30 min and 60 min after the injection.  In a normal person ACTH shows a maximum increase at 30 min and cortisol a maximum increase at 60 min.  Patients with Cushing’s syndrome, due to an adrenal tumour or ectopic ACTH production, show little or no increase in ACTH or cortisol.


Non-laboratory tests

Computed tomography (CT) scan.  This is used to examine the pituitary, adrenal glands and other parts of the body for tumours.

Magnetic Resonance Imaging (MRI).  This is used to examine the pituitary and adrenal glands for tumours.




                                        
                                        
    
        
            
                
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Related Pages
On This Site
Tests: Cardiac risk assessment, Creatine kinase, Lipid profile
Conditions: Angina, Congestive heart failure, Heart attack, Heart disease, Stroke

Elsewhere on the Web
British Heart Foundation: Heart health
NHS Choices: Cardiovascular disease
World Health Organization: Cardiovascular diseases


                                        
                                        
    
        
            
                
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info:
Also known as: Diabetes mellitus


                                                
                                            

What is it?
Note: This article addresses diabetes mellitus, not diabetes insipidus. Although the two share the same reference term ``diabetes`` (which means increased urine production), diabetes insipidus is much rarer and has a different underlying cause. 

Diabetes mellitus is a condition in which the level of glucose (sugar) in an individual`s blood becomes too high because the body cannot use it properly. This results either from an inability to produce insulin or because the individual`s body has become resistant to the insulin produced. About 2.8 million people in the United Kingdom (4.45% of the population) are known to have diabetes and a further ¾ million may have the condition and not know it. Insulin is a hormone, produced by beta cells of the pancreas, which controls the movement of glucose into most of the body`s cells and maintains blood glucose levels within a narrow concentration range. Most tissues in the body rely on glucose for energy production, and all but a few - such as the brain and nervous system - are entirely reliant on insulin to deliver this essential fuel. Diabetes disrupts the normal balance between insulin and glucose. Usually after a meal, carbohydrates are broken down into glucose and other simple sugars. This causes blood glucose levels to rise and stimulates the pancreas to release insulin into the bloodstream. Insulin allows glucose into the cells, where it also promotes storage of excess glucose - either as glycogen in the liver or as triglycerides in adipose (fat) cells. 
If there is insufficient or ineffective insulin, glucose levels remain high in the bloodstream and the body`s cells ``starve.`` Since glucose is not available to the cells with severe insulin deficiency, the body may attempt to provide an alternate energy source by breakind down fatty acids from fat cells. This less efficient process leads to a build-up of ketones (by-products that result from the use of fat as an alternative energy source when glucose is unavailable) and upsets the body’s acid-base balance, producing a state known as ketoacidosis. 
This can cause both short term and long term problems depending on the severity of the imbalance. In the short term it can upset the body`s electrolyte balance, causing dehydration as high blood glucose levels increase the amount of urine produced. If unchecked, this can eventually lead to loss of consciousness, kidney failure and death. In the longer term, sustained high glucose levels can damage blood vessels, nerves, and organs throughout the body, contributing to other problems such as high blood pressure, heart disease, kidney failure and loss of vision in addition to diabetes.



                                        
                                        
    
        
            
                

                

                
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Types of Diabetes
There are two main types of diabetes: Type 1 (which used to be called insulin dependent diabetes or juvenile onset diabetes) and Type 2 (which used to known as non-insulin dependent diabetes or adult onset diabetes). In addition, Gestational Diabetes is a term used to describe diabetes which is recognised for the first time during pregnancy. Pancreatic disease or damage can also cause diabetes if the insulin producing beta cells are destroyed.

Type 1 diabetes develops if the body can no longer produce insulin. It accounts for approximately 10% of diabetes cases in the United Kingdom and is usually diagnosed in those under the age of 30. Symptoms often develop abruptly and the diagnosis is often made following an emergency admission to hospital. The patient may be seriously ill, even unconscious, with very high glucose levels and high levels of ketones. 
Patients with Type 1 diabetes make very little or no insulin. Any insulin producing beta cells that patients have at the time of diagnosis are usually completely destroyed within 5 to 10 years leaving them entirely reliant on insulin injections. The exact cause of type 1 diabetes is unknown, but a family history of diabetes, viruses that injure the pancreas, and autoimmune processes (where the body`s own immune system destroys the beta cells) are all thought to play a role. As type 1 diabetes has an earlier age of onset and hence longer duration, patients may have more severe medical complications than other forms of diabetes. For instance, currently 40% of those with type 1 diabetes develop serious kidney problems leading to kidney failure by the age of 50.

Those with Type 2 diabetes do make their own insulin but it is either not in a sufficient amount to meet their needs and/or their body has become resistant to its effects. At the time of diagnosis they may have typical symptoms of diabetes, especially thirst, weight loss or may be passing large amounts of urine or they may not have any symptoms, and diagnosis may be made on finding high glucose concentrations in the blood. About 90% of diabetes cases in the United Kingdom are type 2. It generally occurs later in life, in those who are obese, sedentary and over 45 years of age. Risk factors include:

Weight excess / obesity

Lack of exercise

A family history of diabetes

Any abnormality of glucose tolerance – the oral glucose tolerance test (OGTT) may identify individuals whose ability to handle a high glucose meal is not normal but is not sufficiently abnormal to identify them as Diabetic

Ethnic groups - more common in Asian and African-Caribbean communities

Gestational diabetes during pregnancy or baby weighing more than 9 pounds

High blood pressure

High triglycerides, high cholesterol, low HDL


Because the population of the western world is becoming more obese and not getting enough regular exercise, the number of those developing type 2 diabetes is rising and, of particular concern is its development in young people.

Gestational diabetes is usually a temporary type of hyperglycaemia (high blood glucose concentration) seen in some pregnant women, usually during the second or third trimester. The cause is unknown, but it is thought that some hormones from the placenta increase insulin resistance in the mother causing elevated blood glucose levels. In the UK, gestational diabetes is usually diagnosed by an oral glucose tolerance test carried out, either because high glucose concentrations have been found in the urine or blood or because the women is known to be at risk for the condition (obesity, a family history of Type 2 diabetes, an unexplained stillbirth or neonatal death in a previous pregnancy, a very large infant in the current or a previous pregnancy). Testing is usually performed between the 24th and 28th week of pregnancy. If gestational diabetes is not treated, the baby is likely to be larger than normal, be born with low glucose levels, and be born prematurely. Gestational diabetes also raises the risk of eventually developing type 2 diabetes, for both the mother and the baby.

Impaired fasting glycaemia or impaired glucose tolerance (sometimes referred to as ``pre-diabetes``) are conditions which can only be detected by use of the oral glucose tolerance test and are characterised by glucose levels that are higher than normal, but not high enough to be diagnostic of diabetes. Usually these individuals do not have any symptoms but if nothing is done to lower their glucose levels, they are at great risk of developing diabetes in the future. Recognising these conditions is important as recent evidence shows that progression to diabetes can be markedly reduced by simple measures such as weight loss and increased exercise.



                                        
                                        
    
        
            
                
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Signs and Symptoms
The signs and symptoms of diabetes are related to high glucose levels (hyperglycaemia), temporarily low glucose levels (hypoglycaemia), and to complications associated with diabetes. The complications can be related to lipid (fat) production, to macrovascular (large blood vessel) or microvascular (small blood vessel) damage, to organ damage - for example kidney (diabetic nephropathy), nerve (diabetic neuropathy), and eye (diabetic retinopathy) damage, and/or to the slower healing associated with diabetes. Patients with Type 1 diabetes are often diagnosed with acute severe symptoms that require hospitalisation. With early type 2 diabetes, and gestational diabetes there may be no symptoms.

Symptoms of type 1 and type 2 diabetes with hyperglycaemia may include any of:

Increased thirst

Passing increasing amounts of urine

Increased appetite (with type 1 weight loss is also seen)

Tiredness

Feeling sick

Vomiting

Stomach pain (especially in children)

Blurred vision

Slow-healing infections

Numbness, tingling, and pain in the feet

Erectile dysfunction in men

Absence of menstruation in women

Rapid breathing (acute)

Decreased consciousness, coma (acute)


Symptoms of impending hypoglycaemia:
Temporary hypoglycaemia in the diabetic patient may be caused by the accidental injection of too much insulin, not eating enough or waiting too long to eat, exercising strenuously, or by the swings in glucose levels seen in patients with diabetes which is difficult to control (often referred to as `brittle diabetes`). Hypoglycaemia needs to be treated because, if it is severe, it can rapidly progress to unconsciousness. True hypoglycaemia occurs when the blood sugar is below 2.5 mmol/L, though symptoms may develop earlier, especially if the blood sugar falls rapidly, and include:

Sensation of hunger

Headache

Anxiety

Sweating

Confusion

Trembling

Weakness

Double vision

Convulsions (severe)

Coma (severe)




                                        
                                        
    
        
            
                
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What is it?
Diarrhoea is a common symptom of an ‘upset tummy’ – a gastrointestinal disturbance. It produces frequent watery stools and may be accompanied by abdominal pain, feeling sick, and tiredness. Sometimes there is blood and/or mucus in the stool. Most adults experience several brief bouts of uncomplicated diarrhoea each year that are usually short-lived and self-limiting, resolving themselves within a few days and cause nothing more than temporary discomfort. However, severe diarrhoea or diarrhoea which lasts several weeks can be dangerous, especially to very young children and the elderly. When diarrhoea is severe or lasts a long time it can lead to dehydration and electrolyte imbalance, and some of those affected may need to be admitted to hospital. In infants, significant dehydration can occur much more quickly than adults, sometimes within a day or two.



                                        
                                        
    
        
            
                

                

                
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Common causes
There are many infectious and non-infectious causes of acute and chronic diarrhoea. Viral, bacterial, and parasitic infections can cause diarrhoea that lasts several days to a few weeks, although some cases may linger causing chronic diarrhoea in those with suppressed immune systems (such as those with HIV/AIDS, cancer or organ transplantation). These sorts of diarrhoea are infectious, with the virus, bacteria, or parasite being shed into the stool and passed from person to person through oral contact with a contaminated surface. Eating food or drinking water that has been contaminated is the most frequent route of infection.

Once a person is infected, they may then pass the infection on to others around them unless careful hygiene practices (especially thorough hand washing) are followed. This route for the spread of infection presents a challenge in households with infected infants, in day care centres and in nursing homes. Sometimes an outbreak of bacterial or parasitic infection can be traced back to a particular restaurant or a single food item at a picnic. Sometimes it may be due to a contaminated water source.

Those who visit developing countries are often at risk of exposure to viral, bacterial, and parasitic infections. Things as simple as contaminated ice cubes, a fresh fruit salad, or food from an open market can cause illness.

Common causes of acute diarrhoea:

Parasites: The most common parasites in the UK are Giardia lamblia (giardia), Entamoeba histolytica (E. histolytica) and Cryptosporidium parvum. These single cell parasites are found in mountain streams and lakes throughout the world and may infect swimming pools and occasionally public water supplies. Other more worm-like parasites, such as roundworms or tapeworms, may also occasionally cause infections.

In other parts of the world, especially in developing countries and in warm climates, a much wider range of parasites may be encountered. These parasites include flat worms, roundworms, hookworms and flukes. Visitors usually become infected by eating or drinking something that has been contaminated with the parasites’ ova but some of the parasites can also penetrate the skin.

Viruses: Rotavirus is the most common cause of severe diarrhoea among children. Other viruses include: Norwalk, noroviruses (also called Norwalk-like viruses), adenoviruses, calciviruses, cytomegalovirus (CMV), and HIV. In the last couple of years Norwalk and Norwalk-like viruses have frequently been mentioned in the news for causing outbreaks of gastroenteritis on cruise ships. They may cause illness in nursing homes, schools, military establishments and anywhere that people congregate.

Bacteria: Bacteria can cause diarrhoea by three different mechanisms: infection, production of a toxin in infected food or production of a toxin in the body after infection.

Bacteria that can infect the gastrointestinal tract include:

Salmonella, often found in raw eggs and poultry and may be carried by reptiles kept as pets

Campylobacter, from raw or undercooked poultry.

Species of Yersinia and Vibrio


Bacteria that produce a toxin in infected food that can persist after cooking include:

Staphylococcus aureus 

Bacillus cereus


Bacteria from food that produce a toxin after multiplying in the gastrointestinal tract include:

Shigella, from faecally contaminated food and water

Escherichia coli 0157:H7 (E. coli), commonly associated with raw or undercooked beef, but also with a wide variety of prepared foods. Hamburgers made at home and inadequate hand washing by food preparers have been shown to be particular risk factors. After an incubation period of 1 to 10 days it causes diarrhoea which contains blood in over 70% of cases. This bacterium can to lead to red blood cell destruction and kidney failure (the haemolytic uraemic syndrome).


Acute diarrhoea may also be due to treatment with broad-spectrum antibiotics, or to other medications that cause diarrhoea as a side effect. Antibiotic treatment can decrease the normal flora which are the “good” bacteria that live in the gastrointestinal tract, help digest our food, and provide a protective barrier against the “bad” bacteria (pathogens). When the growth of the normal flora is inhibited, it is easier for a pathogen to grow and multiply. Toxins produced by the bacterium Clostridium difficile are often the culprit in antibiotic related diarrhoea.

Common causes of chronic diarrhoea:

Chronic diarrhoea (diarrhoea that lasts for more than a few weeks), sporadic diarrhoea, and diarrhoea that alternates with constipation are most frequently associated with non-infectious causes. These may include:

Inflammatory bowel conditions such as Crohn’s disease

Bowel dysfunction as seen in the irritable bowel syndrome (IBS)

Malabsorption diseases such as cystic fibrosis 

Stomach or gallbladder surgery (the rate at which the food travels through the digestive tract may change)

Food intolerance such as lactose intolerance or coeliac disease 

Chemotherapy or radiotherapy affecting gastrointestinal tract

Endocrine problems such as diabetes and thyroid disease 

Bowel cancer and polyps

Self-induced with laxatives

Psychological causes such as stress




                                        
                                        
    
        
            
                
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Tests
Your doctor will want to ask you about your diarrhoea. The frequency, quantity, and consistency of normal bowel movements are very individual. They depend on your metabolism, the foods you eat, your activity level, the amount of fluids you drink, the medicines you take, and even any stress that you are experiencing. Your doctor will be looking for changes from your normal habits, things that are out of the ordinary. The doctor will look for alterations that are commonly associated with diarrhoea-causing conditions. Your doctor will be asking you a series of questions that help choose which laboratory tests will be the most useful. These questions may include:

What is the frequency of your stools? 

How long you have been experiencing diarrhoea? 

What are the consistency, colour, and approximate volume of the stools? 

Is there blood or mucus in the stool? 

What other symptoms are you having: abdominal pain, nausea, fever, headache, fatigue? 

What and where have you eaten recently? 

Have you travelled outside the UK recently? 

Are any of your family members, close acquaintances or co-workers ill? 

Have you been on antibiotics lately? 

If your diarrhoea is persistent or alternates with constipation, have you had any unexpected weight loss?


Laboratory Tests
If your diarrhoea is uncomplicated and goes away within a few days, your doctor may not search for the cause of your gastrointestinal upset. He/she may request one or more of the following tests if your diarrhoea is severe, if there is blood or mucus present or if it is continues for sometime. This is especially true if you have been abroad or have eaten or drunk anything that has also made someone close to you ill.

Tests to identify diarrhoea caused by infection include:

Ova and parasite (OCP) examination. A microscopic examination of your stool for parasites and the ova (eggs, cysts) of parasites. 

Antigen tests for Giardia, Cryptosporidium and E. histolytica are available but not routinely used in the UK. These tests detect protein structures on the parasites. They are more sensitive and specific for these particular parasites than microscopic examination for them and their ova. 

Stool white blood cells. These may be present in the stool when there is a bacterial infection. 

Stool culture to check for pathogenic gastrointestinal bacteria. 

Antibody tests for parasites. These are not as useful to detect current infections but may be requested to check for past or chronic infections, especially if unusual parasitic infections are suspected.

Rotavirus test, a rapid antigen test. 

Clostridium difficile toxin,a rapid test used to identify a Clostridium difficile infection by detecting the toxin made by the bacteria. 

Electrolytes including sodium, potassium and urea. If you are dehydrated your doctor may want to do a blood test to determine whether your electrolytes have become imbalanced. 

Biopsy of the small intestine is rarely done to look for signs of parasitic infection


Tests for non-infectious causes of diarrhoea include:
Coeliac disease tests, such as anti-endomysial and anti-gliadin antibodies.

Food allergy and intolerance tests (such as tests for lactose intolerance).

Faecal calprotectin to differentiate inflamatory bowel conditions such as Crohn`s disease from irritable bowel syndrome (IBS)

Tests to assess the effects of diarrhoea on your metabolism include


A Full Blood Count to look for anaemia and signs of response to inflammation

Electrolytes to look for disturbances of salt and water






Non-Laboratory Tests
Endoscopy, sigmoidoscopy or colonoscopy are used to look at portions of the gastrointestinal tract.



                                        
                                        
    
        
            
                
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Overview
Down’s syndrome (DS) is a congenital condition caused by an extra copy or piece of chromosome 21 in all or most of the affected person’s cells. A group of signs, symptoms, birth defects, and complications arise from an error in cell division that occurs before, or shortly after conception. This error has a widespread effect on the physical and mental development of the affected person.

Chromosomes hold the body’s genetic blueprint. Most cells in the body contain 22 pairs of chromosomes and a 23rd set of either XX (in females) or XY (in males) for a total of 46 chromosomes. Reproductive cells (eggs and sperm) contain a single set of 23 chromosomes that combine when an egg is fertilized to form a new set of 46 in the fetus (half from each parent). In most cases of Down’s syndrome, an extra copy of chromosome 21 is present in either the egg or sperm. This is caused by a defect in the production of an egg or sperm cell which, although occurring infrequently, happens more often as a person gets older. The extra copy of chromosome 21 becomes part of the fertilized egg and is replicated in all of the embryo’s cells. This form of Down’s syndrome is called trisomy 21, and it accounts for about 95% of DS cases.

The error may also occur after conception, in the developing embryo. As the fetus grows, some cells may have 47 chromosomes, while others have 46. This form of Down’s syndrome is called mosaic trisomy 21.

In another rare form of Down’s syndrome called translocation trisomy 21, a piece of chromosome 21 attaches to another chromosome before or at conception. Even though the fetus has 46 chromosomes, it still has an extra portion of chromosome 21 in its cells.  All individuals with additional chromosome 21 genetic material, regardless of the cause, will develop some of the features of Down’s syndrome.

Before the advent of screening, about 1 in 800 babies in the United Kingdom were born with Down’s syndrome. The chance of having an affected baby increases significantly as a woman ages. It increases from less than 1 in 1,000 in women under 30 to 1 in 400 by age 35 and to 1 in 12 by the time a woman is 49 years old. However, since more younger women become pregnant, the majority of those with Down’s syndrome, about 75%, will be born to women under 35.  There are many characteristic signs and symptoms associated with Down’s syndrome. Not every child will have every one and the degree to which they are affected may vary greatly. Signs and symptoms include:

A small head with small, low-set ears

Slanting eyes, a broad flat face, and a short nose

A small mouth and protruding tongue

Short, small but broad hands and feet and a single crease across the palm

Short fingers and an abnormal bone in the 5th (little) finger

Poor muscle tone (hypotonia)

Hyperflexible joints

Atlantoaxial instability (a malformation of the top of the spine)

Mild to moderate mental retardation 

Complications of Down’s syndrome vary greatly. Some may be present at birth, some may arise during childhood, others during adulthood, and others may never be experienced. Doctors and family members must be aware of these potential complications as patients may or may not be able to clearly communicate their symptoms and/or may express them in unexpected ways.   Complications can include:

Coeliac disease

Dental disease 

Developmental delays 

Diabetes 

Food sensitivities and constipation

Gastrointestinal abnormalities and obstructions (5 to 10%)

Hearing loss (75%)

Heart defects and disease (close to 50%)

Increased incidence of respiratory and ear infections, colds, bronchitis, tonsillitis, and pneumonia

Increased risk of acute leukaemia

Premature aging, loss of cognitive abilities, and Alzheimer’s type symptoms in patients under 40 years of age 

Seizure disorders

Sleep apnoea (50 to 75%)

Spinal cord compression

Thyroid disease (about 15%)

Visual problems, including cataracts (about 60%)



                                        
                                        
    
        
            
                

                

                
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Tests

 Tests for Down’s syndrome may be undertaken at different times and for different purposes. Testing during pregnancy may be undertaken to screen for Down’s syndrome, diagnose it and offer counselling about the choices during pregnancy and detect any malformations that will require medical interventions shortly after birth. A person with Down’s syndrome will have tests to monitor the condition throughout his or her life. Testing is usually a combination of laboratory and non-laboratory evaluations.

Laboratory Tests Screening and diagnostic tests may be done during a woman’s pregnancy, in either the first or the second trimester. Screening tests are not diagnostic; they indicate an increased likelihood of the fetus having Down’s syndrome. Department of Health policy in England recommends that all pregnant women be offered Down’s syndrome screening tests.  Prenatal diagnostic tests may be offered when screening tests indicate a higher risk of an affected pregnancy. They involve taking samples of the fluid or tissues surrounding the baby and evaluating them for an additional copy or portion of chromosome 21. A very small risk of infection and miscarriage is associated with these diagnostic tests.  Diagnostic testing performed after birth involves taking a sample of blood from the baby and evaluating his or her chromosomes. Tests that detect the complications often seen in those with Down’s syndrome are used to help diagnose conditions that arise and to monitor the effectiveness of treatment. Some of the complications, such as congenital heart defects and gastrointestinal obstructions, may be present at birth. Others such as hearing loss, vision disorders, leukaemia, and thyroid disease may develop at any time during the person’s life.

Testing includes:

Prenatal screening

1st trimester screen - nuchal translucency (a non-laboratory test, see below), pregnancy-associated plasma protein A (PAPP-A), and free beta hCG (human chorionic gonadotropin), usually performed between 11 weeks 2 days and 14 weeks 1 day gestation. Although the blood may be taken for testing after 10 weeks gestation, the NT should only be performed after 11 weeks 2 days.

2nd trimester screen (triple/quad testing) - alpha fetoprotein (AFP), free or total hCG, and unconjugated oestriol (uE3) for the triple test; the quad test adds inhibin A; performed from 14 weeks 2 days to 20 weeks 0 days gestation

Prenatal diagnosis

Fetal cells are examined for an extra copy of chromosome 21 from a sample taken by:-

Chorionic Villi Sampling (CVS) – from about 10th week of pregnancy

Amniocentesis – usually after 15 weeks of pregnancy

Percutaneous Umbilical Blood Sampling (PUBS) - 18th to 22nd week of pregnancy

Diagnosis after birth 

Chromosomal karyotype – chromosomes from a blood sample taken after birth are evaluated for an extra copy of chromosome 21. The presence and type of Down’s syndrome can be determined from this test.

Non-Laboratory Tests  Prenatal

Nuchal translucency (NT) – an ultrasound measurement of the space between the fetal spine and the skin at the back of the neck; not diagnostic, but in a fetus with Down‘s syndrome, there may be an increased amount of space. NT measurement requires a person with specialized training to perform the test and interpret the results.

2nd trimester high-resolution ultrasound – can help monitor fetal development and detect malformations such as cardiac and gastrointestinal defects

At or soon after birth 

Echocardiogram and chest x-rays (to help detect cardiac defects)

Ultrasound and/or MRI (magnetic resonance imaging) to evaluate any suspected congenital conditions such as cardiac defects and gastrointestinal obstructions

Hearing evaluation



                                        
                                        
    
        
            
                
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Treatments
Currently there is no way to prevent or cure Down’s syndrome. Prenatal screening and diagnosis is performed to detect the condition in the fetus and to allow the pregnant woman and her family to make informed choices. Early diagnosis allows the family and doctor to work together to monitor the baby and to prepare for complications that may require attention shortly after birth. Medical treatments may include surgical interventions, such as repairing cardiac defects and gastrointestinal obstructions, and starting medications for conditions such as thyroid disease.

In individuals with Down’s syndrome, careful monitoring, prompt attention to acute and chronic conditions that arise, and “early intervention” to maximize the potential of the individual are important. The symptoms, signs, complications, and abilities of people with Down’s syndrome will vary widely. It is not possible to determine early in a child’s life what they will be able to learn, do, and accomplish. They should be given encouragement and stimulation from an early age, given a healthy diet, and engaged in regular physical activities to maintain muscle strength. Families should work closely with their doctors and other specialists to develop life, monitoring, and treatment plans that meet the unique needs of those affected.

There are national and local initiatives and resources that can help children with Down’s syndrome develop their physical, communication, and cognitive skills. Many children will be able to join regular classes in schools, participate in sports, and as adults hold jobs and live semi-independent lives. Most will be able to live relatively normal and healthy lives. The average lifespan of those with Down syndrome has increased in recent years with most patients living to their mid 50’s, and many into their 60’s and 70’s.



                                        
                                        
    
        
            
                
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What are they?
Meningitis is an inflammation of the membranes that cover the brain and spinal cord (the meninges). Encephalitis is an inflammation of the brain itself.

Meningoencephalitis is an inflammation of both the brain and the meninges and encephalitis and meningitis often occur together. The resulting inflammation causes swelling of the affected areas of the brain which can cause increased pressure. This is because the brain is in a fixed compartment within the skull and has no room to expand. Therefore as the brain swells pressure starts to build up inside the brain.  This pressure can affect or permanently damage the function of the nerves in the brain and damage the brain tissue itself. Therefore these diseases if left untreated can be fatal.

In addition to causing swelling that can cause pressure on the brain, meningitis and encephalitis can also damage the blood-brain barrier. This is a protective barrier that separates the specialised fluid found in the brain, called cerebrospinal fluid (CSF), from the blood that circulates around the brain. This protects the brain from certain foreign substances, toxins, chemicals and hormones in our blood stream that may be harmful to the brain. With the disruption of this barrier, white and red blood cells, immune system chemicals, toxins, increased amounts of protein, and the germs that cause inflammation can enter the cerebrospinal fluid (CSF). This then alters the consistency of the CSF which can cause this free flowing fluid to flow slowly. This combined with the swelling that occurs in meningitis and encephalitis can completely obstruct the flow of CSF.  This can increase the CSF pressure which subsequently increases the pressure in the brain and spinal cord, and can decrease blood flow to the brain causing further injury.

Both meningitis and encephalitis are usually caused by infections.These may be bacterial, viral, fungal, or parasitic infection. Very rarely meningitis may be also be caused by surgery or other invasive procedures on the brain and this is called “chemical meningitis”. Encephalitis may also be caused by damage from the auto-immune system which will be discussed later. Most causes of meningitis and encephalitis however are caused by bacteria or viruses, with viral causes being the most common.

Meningitis and encephalitis can also be divided into whether they are  acute, with a quick onset of symptoms, or chronic where symptoms can last a month or more.  They can also be grouped into terms of their severity which can range from mild and self-limiting to fatal.



                                        
                                        
    
        
            
                

                

                
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Meningitis
Viral Meningitis

This is the most common cause of meningitis and tends to be less serious than the bacterial form and is rarely life threatening. In addition, viral meningitis cannot cause blood poisoning (septicaemia) which is usually life threating if left untreated. It commonly affects children under the age of 5 and those with a weak immune system. In the UK, viral meningitis is more widespread during the summer and autumn months. It is not known how many people get viral meningitis each year in the UK as most cases are mild and not reported. However it is estimated that there are many thousands of cases each year.

Viruses that can cause meningitis are:

Enteroviruses (viruses that live in your intestine)

Herpes Simplex Virus

Mumps virus

Ebstein Barr virus

Human immunodeficiency virus (HIV)

Cytomegalovirus (CMV)


 Bacterial Meningitis

Bacterial meningitis is a medical emergency. Cases can arise suddenly, with symptoms worsening within hours to a couple of days and so it is usually acute. Rapid identification and treatment is crucial. The bacteria that cause bacterial meningitis can also spill into the blood and then multiply causing septicaemia (blood poisoning). If this occurs, organs such as the kidneys and liver can be affected and it can also cause damage to the limbs. Therefore, untreated bacterial meningitis is usually fatal. However, bacterial meningitis can also be caused by septicaemia where the bacteria in the blood stream enter the brain and cause it to be infected. Therefore meningitis can occur with or without septicaemia.

Children under the age of 4 seem to be at most risk of bacterial meningitis as well as teenagers aged 15-19 years of age. Every year around 2,500 cases of bacterial meningitis occur in the UK.  While this condition can be caused by many different types (species) of bacteria, the most common causes are:

Neisseria meningitidis – called meningococcal meningitis. This is the most common form in the UK and it is highly contagious.  There are several different strains, but most cases in the UK are caused by strain B. Strain C used to be common, but vaccination now prevents most of these cases. Meningococcal bacteria are common. It is estimated that about 10% of the population carry them in the back of the nose or throat. Carriage is less common in young children than in adults. Young adults have the highest rate of carriage, with up to one in four harbouring the bacteria. As well as infecting the meninges, meningococcal bacteria can also cause septicaemia. This may be called meningococcal septicaemia. It is commonly seen in college/university students, infants, children, international travellers, and the immunocompromised.

Streptococcus pneumoniae – called pneumococcal meningitis. This is the second most common cause of bacterial meningitis in the UK. According to a study in 2005, approximately half of pre-school children carry pneumococcal bacteria in the back of their nose and throat. These bacteria are therefore passed around by coughing, sneezing and close contact. In most cases carrying these bacteria is harmless. However in susceptible people these bacteria can cause a variety of illnesses including minor illness such as ear and sinus infections as well as life threating illnesses such as pneumonia and meningitis. Occasionally, pneumococcal meningitis can develop from a milder form of the infection such as earache.    Infants under 2 years old and those with compromised immune systems are at greatest risk for it. A pneumococcal vaccine which protects against 13 strains of the bacteria is now given as part of the routine immunisation programme in the UK.  It protects against some forms of pneumococcal meningitis but not all. Pneumococcal meningitis can result in septicaemia but not as often as in meningococcal meningitis.

Haemophilus influenzae type b – once the most common cause of bacterial meningitis, its incidence has decreased because of widespread vaccination of children.

Group B streptococcus, Escherichia coli, and Listeria monocytogenes are the most common causes of meningitis in the neonate (babies less six weeks old) and may be passed from the mother to her baby.


 Chronic Meningitis

Chronic meningitis is meningitis symptoms that last for more than 4 weeks. Again it can be caused by infections but other non-infective causes such as connective tissue disease and malignancy may also be the cause. In up to a third of cases no cause is found.  The most common cause of chronic meningitis is Mycobacterium tuberculosis, the bacterium that causes tuberculosis (TB). This accounts for 40–60% of cases. However, other bacterial causes include Treponema pallidum which causes syphilis. Meningococcal bacteria rarely cause chronic meningitis. Other infective causes include fungi and parasites. Fungal meningitis is most commonly seen in immunocompromised patients, such as those with HIV/AIDS, but it may affect anyone. The most common fungal cause is Cryptococcus neoformans (cryptococcal meningitis), which is found in dirt and bird droppings. Other fungal causes include Coccidioides immitis, Histoplasma capsulatum, and Candida species. Amoebic meningitis is rare and can be lethal. It is caused by the free-living amoeba, Naegleria fowleri, a single-cell parasite, which can be found in warm water lakes and rivers.

Meningitis may also be recurrent. There is a rare condition called Mollaret’s meningitis which is a recurrent form of meningitis. It is thought to be caused in many cases by an infection with a member of the herpes family of viruses. Patients with this condition usually experience viral meningitis more than once and are often given acyclovir to prevent recurrence if the cause turns out to be the herpes virus. Recurrent meningitis is more common in patients with immune deficiencies or underlying structural defects in the brain.



                                        
                                        
    
        
            
                
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Encephalitis
Encephalitis is an inflammation of the brain characterised by fever, headache, and an altered state of consciousness, with or without seizures. Encephalitis itself is not common however, and it is estimated that there are 4000 new cases of encephalitis in the UK every year. The symptoms may be very mild and in view of this there are probably many more cases with mild symptoms that occur but are not documented.

Viruses are the most common cause of encephalitis. However, other infectious organisms may be involved and it can also be caused by non-infectious causes such as by the autoimmune system attacking the brain.  The herpes simplex virus is the most common cause of encephalitis in the UK. The herpes zoster virus that causes chickenpox is also common. Other common viruses involved are enterovirus, the mumps virus and the Epstein-barr virus. Rarely, other viruses may be involved such as the rabies virus (from an animal bite), or arboviruses. Arboviruses are usually spread by insects such as infected mosquitoes or ticks. Therefore, throughout the world where other insects may be more common, different types of arbovirus-related encephalitis may be seen.

Bacterial, fungal, and parasitic encephalitis are very rare. Bacterial meningoencephalitis may develop from the bacteria that cause meningitis. Tick-transmitted Lyme disease may cause bacterial encephalitis as can mycobacterium tuberculosis which causes TB. Toxoplasma gondii, a parasite associated with cats, can cause parasitic encephalitis in some people with compromised immune systems. Other bacteria, fungi, and parasites can occasionally cause encephalitis.

There are two types of encephalitis, primary and secondary. In primary encephalitis, the brain and spinal cord are infected directly. The infection may be limited to a single location (focal) or be spread throughout the brain (generalised). Secondary encephalitis, also known as post-infective encephalitis, can result from complications of a current or previous viral infection. In these cases the auto-immune system which normally fights off the virus can start attacking the brain.  It can also be caused by the same reaction of the auto-immune system to a vaccination or a tumour. Post-infectious and autoimmune/inflammatory encephalomyelitis are broadly represented by the syndrome called acute disseminated encephalomyelitis (ADEM). In this syndrome the inflammation damages a special protective sheath around the nerve fibres called myelin. This damages the nerve fibres and can cause loss of function of certain parts of the body supplied by these nerves, in addition to the general features of headache and fever. ADEM is more common in children.

In addition, encephalitis can also be divided into acute and chronic. The acute form is more common. However, chronic encephalitis can occur where the inflammation occurs slowly over months. This can be caused by the HIV virus however it can be caused also be caused by other unknown causes.



                                        
                                        
    
        
            
                
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What is it?
Epilepsy is a condition which causes seizures. Seizures happen when the normal electrical signals in the brain are over-run by uncontrolled and unorganised electrical interference. They can cause unconsciousness, odd rhythmic or repetitive movements, jerking or twitching of limbs, and can lead to convulsions that contract muscles throughout the body. Sometimes seizures begin with an aura. Auras are unusual feelings of sight, sound, smell, taste or touch that warn people of an on-coming seizure. For example, they may feel a cool breeze or a bright light and may include numbness or feeling sick. What happens during a seizure depends on which part of the brain is affected. Many people with epilepsy have similar symptoms with each seizure, but some may have a wide variety of symptoms.

Most seizures last a few seconds to a few minutes. If a person’s consciousness is altered or lost, they may not remember what has happened. After a seizure some people feel normal, but others feel confused, may suffer from headaches, and can have weakness and tiredness for hours or even days afterwards. Most seizures do not have a lasting affect on the brain or body, but a loss of consciousness may lead to falls and injuries - especially if the affected person is driving, bathing, cooking, or doing other potentially dangerous activities. Seizures that last longer than 20 minutes are called status epilepticus. The longer a seizure lasts the more the risk of problems with breathing. Prolonged seizures, longer than 30 minutes, can increase the risk of permanent damage and can in some cases be fatal.

Not every seizure is epilepsy. Those that are due to other conditions such as a high fever in an infant, brain infections, or alcohol or drug withdrawal may not be called epilepsy. Some symptoms that look like a seizure are actually caused by problems in other parts of the body. Fainting, migraine headaches, narcolepsy, drug use, mental illness, heart conditions and many other medical problems can cause symptoms similar to a seizure.

Epilepsy is diagnosed when someone has two or more seizures, which are at least 24 hours apart, that cannot be explained by another diagnosis such as those mentioned previously. About 1 in 20 adults will experience a single seizure in their lifetime, but most will never have another one. There are about 456,000 people living with epilepsy in the UK according to leading epilepsy charities. While epilepsy can affect anyone, young children and adults over 65 are most likely to be affected. The majority of people with epilepsy will respond to treatment, but about 25-30% will continue to have seizures despite treatment.Any condition that affects the brain has the potential to cause epilepsy. This includes head injury, abnormal brain development, lack of oxygen during birth, brain tumours, strokes,  diseases of the heart and it’s blood supply, toxins such as lead poisoning, infections, diseases of the brain and nerves, and disorders of the body’s chemistry. Some forms of epilepsy run in families and are related to genetic problems. The cause of epilepsy in many cases is unknown and Doctors refer to this as idiopathic epilepsy.

Epileptic seizures can be described as either partial (focal) or generalized. Partial seizures originate from a single location in the brain, while generalized seizures involve both sides of the brain. A few seizures may start as partial seizures and then become generalised, and spread to involve the whole brain. About 60% of people with epilepsy have partial seizures. For more information about types of seizures, visit the Epilepsy Foundation website and read the article Seizures and Syndromes.



                                        
                                        
    
        
            
                

                

                
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Sym:
Tests
Laboratory and non-laboratory tests are used to diagnose and monitor epilepsy. They can help to determine what kind(s) of seizures the patient is having, identify causes such as toxins, infections, drug or alcohol withdrawal, fever (in a child), or diabetes that may be causing seizures, and to distinguish epilepsy from conditions such as fainting or a stroke that may cause some of the same symptoms.

A medical history, input from the patient, and input from family members who have witnessed a patient’s seizures are important parts of the diagnostic process. The patient may remember a strange smell, an aura, and/or sensations that precede a seizure but may not remember what has happened during the seizure itself. Depending upon the signs and frequency of a person’s seizures, it may take some time to determine the proper diagnosis.

Laboratory Tests
Laboratory tests are usually used to monitor anti-epileptic drugs and to rule out other diseases such as diabetes, anaemia, infection, meningitis or encephalitis. Testing may include:

Periodic therapeutic drug monitoring when a patient is taking a specific medication, such as:

Carbamazepine

Phenytoin

Valproic acid

Phenobarbital


Other testing:

FBC (Full Blood Count) – to look for signs of infection or anaemia

Glucose – may be increased or decreased with diabetes

CSF analysis – to check for infection and help diagnose meningitis and encephalitis

Blood culture – to check for septicaemia, infection in the blood


Non-Laboratory Tests

Electroencephalogram (EEG) – a primary diagnostic tool for epilepsy; it is used to evaluate the brain’s electrical activity and identify changes in brain wave patterns.


Imaging scans:

Computerised tomography (CT) – identify brain structure abnormalities and tumours

Magnetic resonance imaging (MRI) – also identify brain abnormalities

Positron emission tomography (PET) – radioactive material is used to look at active areas of the brain.


Single-photon emission computerized tomography (SPECT) – radioactive material is used to identify the region of the brain where seizures originate when it is not clear on other scans.



                                        
                                        
    
        
            
                
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Tests:
Treatments
Epilepsy can be successfully treated in most people but may not be prevented or cured. The risk of epilepsy due to a head injury can be reduced by taking safety measures, such as by wearing a helmet while riding a bicycle or motorcycle and wearing a seat belt while in a car.

In patients who have epilepsy, seizures can often be prevented or decreased in frequency by taking appropriate anti-epileptic drugs such as carbamazepine, phenytoin, phenobarbital or valproate. The choice of drug depends on the patient and on the type of seizure. A person should work with their doctor to find the right medication(s) and dose.

The number of seizures can also be decreased by avoiding seizure triggers such as being tired from lack of sleep, becoming very stressed, alcohol consumption, and use of illicit drugs such as cocaine. Treating underlying conditions can also reduces the frequency of seizures.



                                        
                                        
    
        
            
                
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What are Fungal Infections?
Fungal infections represent the invasion of tissues by one or more species of fungi. They range from superficial, localised skin conditions to deeper tissue infections to serious lung, blood (septicaemia) or systemic diseases. Some fungi are opportunistic while others are pathogenic, causing disease whether the immune system is healthy or not.

Fungi are one of four major groups of microorganisms (bacteria, viruses, parasites, and fungi). They exist in nature in one of two forms: as unicellular yeasts or as branching filamentous moulds. Some fungi are dimorphic - they change from one form to another depending on their environment. While yeasts cannot be seen with the naked eye, moulds can be seen as the fuzzy splotches on overripe fruit or stale bread, as mildew in the bathroom shower, and as mushrooms growing on a rotted log. There are more than 50,000 species of fungi in the environment, but less than 200 species are associated with human disease. Of these, only about 20 to 25 species are common causes of infection.

Most fungal infections occur because a person is exposed to a source of fungi such as spores on surfaces or in the air, soil, or bird droppings. Usually, there is a break or deficiency in the body’s immune system and/or the person provides the “right environment” for the fungi to grow. Anyone can have a fungal infection, but certain populations are at an increased risk of fungal infections and recurrence of infections. These include organ transplant recipients, people who have HIV/AIDS, those who are on chemotherapy or immune suppressants, and those who have an underlying condition such as diabetes or lung disease.

Infections involving fungi may occur on the surface of the skin, in skin folds, and in other areas kept warm and moist by clothing and shoes. They may occur at the site of an injury, in mucous membranes, the sinuses, and the lungs. Fungal infections trigger the body’s immune system, can cause inflammation and tissue damage, and in some people may trigger an allergic reaction.

Many infections remain confined to a small area, such as between the toes, but others may spread over the skin and/or penetrate into deeper tissues. Those that progress and those that start in the lungs may move into the blood and be carried throughout the body. Some fungal infections may resolve on their own, but most require medical attention and may need to be treated for extended periods of time. Those that penetrate into the body typically increase in severity over time and, if left untreated, may cause permanent damage and in some cases eventually be fatal. A few fungal infections may be easily passed on to other people, while others typically only affect the infected person.

Fungal infections may be categorized by the part of the body that they affect, by how deeply they penetrate the body, by the organism causing the infection, and by the form(s) that the fungi take. Some organisms may cause both superficial and systemic infections.



                                        
                                        
    
        
            
                

                

                
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Superficial fungal infections of skin, nail, and hair
Superficial fungal infections may be caused by both yeast and mould forms of fungi. Skin is normally populated with a mixture of microorganisms called normal flora. Most of the time, normal flora do not cause illness and do not stimulate the immune system. If there is a break in the skin or if the immune system becomes compromised, then any of the microorganisms present can cause a wound or skin infection. If there is a shift in the balance of the microorganisms, such as a decrease in bacteria and an increase in the growth of fungi (sometimes seen with the use of broad-spectrum antibiotics), then the person may experience a fungal infection associated with the imbalance.

Yeast infections
Candidiasis, is a common yeast infection that is due primarily to the overgrowth of Candida albicans and other species of Candida, which are part of the normal flora. In the mouth, candidiasis causes redness and white patches and is called “thrush.” In babies, Candida can cause diaper rash. In women, it can cause genital itching and vaginal discharge that is referred to as a “yeast infection” (thrush). Almost 75% of women will have at least one yeast infection in their lifetime. Candidiasis can also cause a variety of other infections, including nail infections, and can become systemic – especially in those who are immunocompromised.

Fungal (dermatophyte) infections
Athlete’s foot, ringworm, tinea, and fungal nail infections are common infections that can be passed from person to person. These fungal infections can cause reddening, peeling, blistering, and scaling of the skin, itching, deformation and brittleness of affected nails, and brittle hair. They are caused by dermatophytes, a group of fungi that includes Trichophyton, Microsporum, and Epidermophyton species. Dermatophytes feed on keratin and rarely penetrate below the skin.

Athlete’s foot (tinea pedis) is found between the toes and sometimes covers the bottom of the foot.

Jock itch (tinea cruris) may extend from the groin to the inner thigh.

Scalp and hair infection (tinea capitis) affects hair shaft, primarily in children.

Finger or toenail infection (tinea unguium) typically affects toenails but may also affect fingernails.

Ringworm of the body (tinea corporis) can be found anywhere on the body.

Barber’s itch (tinea barbae) affects the bearded portion of the face.


Others
Tinea versicolor is associated with multicolored patches or lesions on the skin and is caused not by a dermatophyte, but by Malassezia furfur, a yeast. It is a condition that is common in young adults. Sporotrichosis is a condition caused by the fungus Sporothrix schenckii, which is not a dermatophyte. It is an infection of the skin and subcutaneous tissue that has been abraided by thorny plants, pine needles, and sphagnum moss where this fungus normally resides.

Deep Tissue, Blood, Lung and Systemic Fungal Infections
A variety of fungi can cause deep and systemic infections. Some are associated with travel to specific regions of the world. People frequently become infected because they come in contact with the environment where a fungus grows, such as infected soil. Lung infections typically start with the inhalation of fungal spores. With lung infections, and with fungal infections that have spread below the surface of the skin, the invading fungi have the potential to disseminate from the original infection location and move to the blood (septicaemia) and/or spread throughout the body – into organs, tissues, bone, and sometimes into the meninges that cover the spinal cord, and into the brain.

In many patients with competent immune systems, fungal lung infections may cause only mild to moderate flu-like symptoms such as coughing, fever, muscle aches, headaches, and rashes. In other patients, fungi may cause infections that remain localized at the initial site of the infection and do not spread (the organisms are walled off in granulomas). However, people with these localized infections may, at some point in their life, become immunocompromised and the long-standing, silent chronic fungal infection may then become an active acute infection. Some infections caused by fungi may take months to years to cause symptoms, slowly and progressively growing worse and disseminating throughout the body, causing night sweats, chest pain, weight loss, and enlarged lymph nodes. Others may progress rapidly, causing pneumonia and/or septicaemia. Fungal lung infections are more likely to be severe in people who have underlying lung disease and/or compromised immune systems such as those with HIV/AIDS. Both acute and chronic fungal infections can cause permanent lung, organ, and bone damage and can be fatal. Uncommon deep or systemic infections include:

Aspergillosis, caused by Aspergillus fumigatus or several other Aspergillus species. These fungi are commonly found in soil, plants, and house dust. They can cause fungal masses in the sinuses and lungs and, in some cases, can spread to the brain and bones.

Blastomycosis, caused by Blastomyces dermatitidis found in moist organic-rich soil, such as woodland areas of the south-eastern and south-central United States.

Coccidiomycosis, caused primarily by Coccidioides immitis found in arid soil of the southwestern U.S., Mexico, and South America.

Cryptococcosis, caused by Cryptococcus neoformans or rarely by another Cryptococcus species found in soil and are associated with bird droppings. Anyone may become infected, but the highest prevalence in the U.K. is in people who have HIV/AIDS. 

Histoplasmosis, caused by Histoplasma capsulatum found primarily in the east and central U.S.; typically affects the lungs.

Candidiasis, caused by Candida species, which are part of the normal human flora, are found worldwide. Infections occur in the moist mucous membranes of the body.

Pneumocystis pneumonia, caused by Pneumocystis jorveci (formerly known as Pneumocystis carinii), found worldwide and most commonly affecting those with compromised immune systems, including those with HIV/AIDS.




                                        
                                        
    
        
            
                
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Tests:
Tests
Laboratory Tests
Various laboratory tests may be used to help diagnose and guide treatment of fungal infections. For detailed information, see the article on Fungal Tests.

Tests for superficial infections
Many fungal skin infections are diagnosed by the doctor based on a clinical evaluation and his experience. In addition to general symptoms, many skin infections have characteristic signs, such as the appearance of infected nails and typical locations on the body – such as athlete’s foot between the toes. A clinical evaluation cannot, however, definitively tell the doctor which microorganism is causing a fungal infection. A few laboratory tests may be useful in detecting and confirming a fungal infection and may help guide treatment. They may include:

Microscopic examinations, such as potassium hydroxide (KOH) preparation and calcofluor white stain.

Fungal culture and susceptibility testing


Tests for deep and systemic infections
With lung and systemic fungal infections, the symptoms are frequently nonspecific and may be confused with those due to other microorganisms or to another disease process. Laboratory testing is primarily used to diagnose these serious fungal infections, to identify the microorganism responsible, and to determine its likely susceptibility to specific antimicrobial agents. Sometimes testing is also performed to detect and identify bacteria that may be causing a concurrent infection. The sample collected depends upon the suspected location(s) of the infection. It may include one or more of the following: the collection of blood, sputum, urine, cerebrospinal fluid (CSF), and/or the collection of a tissue biopsy. Testing may include:

Microscopic examination of the sample using techniques such as KOH preparation and calcofluor white stain may be used to quickly determine whether or not the infection is due to a fungus.

Fungal culture – This is the primary test used to diagnose a fungal infection. Many fungi are slow-growing and may require up to several weeks for recovery and identification.

Susceptibility testing– A follow-up test to the fungal culture that is sometimes ordered to help guide treatment.

Antigen and Antibody testing – Available for a variety of different fungi but only for deep or systemic infections. May be performed on blood or other body fluids, such as CSF.


Other tests that may be requested in conjunction with fungal tests include:

Gram stain – a rapid test performed to microscopically detect bacteria and yeasts in a sample.

Bacterial culture – used to rule out bacterial infection or determine if a concurrent bacterial infection exists.

AFB smear and culture – may be used to rule out tuberculosis or infection due to non-tuberculous mycobacteria.

Blood culture – ordered when septicaemia is suspected.

DNA or RNA testing to detect genetic material of a specific organism; not commonly used for identifying fungi.


Non-Laboratory Tests
In some cases, imaging scans such as x-rays may be ordered to detect fungal masses, such as in the lungs, and to evaluate the extent of tissue damage.



                                        
                                        
    
        
            
                
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What is it?
Gallstones are hard lumps of crystals which develop within the gall bladder.  The gall bladder is a small sac-like organ located underneath the liver.  The gall bladder is connected to the liver and the intestine via small tubes called bile ducts. Between meal times the gall bladder collects and stores bile from the liver.  Bile is a mixture of chemicals which help the digestion and absorption of food. At meal times the gall bladder contracts squeezing bile out into the intestines.

Gallstones develop from the chemicals in bile.  They are usually made of cholesterol, but can also be formed from pigments produced by the liver. They may contain calcium salts.

Many factors increase the risk of developing gallstones, these include:

Increasing age

Female sex

Pregnancy

Obesity

Rapid weight loss

Frequent or long term fasting

Diabetes

Cystic fibrosis 

Digestive disorders including Crohn`s disease

Cirrhosis (scaring of the liver)




                                        
                                        
    
        
            
                

                

                
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Signs & Symptoms
The majority of gallstones do not cause any symptoms, and do not need treatment.

Pain at the top, right side of the abdomen can occur if the gallstone blocks the cystic duct (which links the gall bladder to the common bile duct) during contraction of the gallbladder. This is known as biliary colic. The pain is often linked to fatty meals (when the gall bladder contracts).  Typically the pain is intense for at least 30 minutes but begins to subside after an hour, as the gall bladder begins to relax. It is unusual for an attack of biliary colic to last longer than 6 hrs.

In some cases of gallstone disease the stone permanently blocks the cystic duct, resulting in inflammation of the gallbladder. This condition is known as acute cholecystitis. In acute cholecystitis the pain is severe, unrelenting and prolonged (usually longer than 5 hours). The pain is typically accompanied by a fever. Bacterial infection can also occur requiring the affected patient to stay in hospital to receive antibiotics.

Occasionally the gallstone may move out of the gall bladder and into the tube which carries bile to the intestine (known as the common bile duct).  This blocks the flow of bile into the intestine and can cause jaundice (yellow skin and eyes).  The patient may also notice dark urine and light coloured faeces.

Acute cholangitis (inflammation of the common bile duct) occurs if bacteria enter the blocked tube.  This leads to a high fever often with pain, vomiting, and extreme tiredness.

Gallstones can become lodged at the junction of the pancreas and common bile duct.  This leads to inflammation of the pancreas (pancreatitis).



                                        
                                        
    
        
            
                
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Tests:
Tests
Blood tests are typically normal in biliary colic when it is not complicated by inflammation or infection of the gallbladder.

Blood tests can show signs of inflammation and infection:

FBC – raised white cells indicate infection

CRP – an elevated result indicates inflammation

ESR – an elevated result indicates inflammation


Blood tests can also demonstrate any damage to the liver or pancreas as a result of blockage or infection:

Liver function tests – One of these tests called alkaline phosphatase is very high in infection of the bile ducts.  Another test is bilirubin which will be raised if the bile ducts are blocked

Amylase – Typically raised if the pancreas is damaged


Ultrasound will show almost all gallstones over 4mm.  CT and MRI scans may also be used.



                                        
                                        
    
        
            
                
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What is it?
Gout is a condition caused by the collection of needle-like uric acid crystals in one or more joints. Uric acid is a waste product made naturally by the body. Increased levels of uric acid occur following the breakdown of a substance called purines. These are found naturally in DNA,  the building blocks of our cells, and in many foods . Foods high in purines include sardines, anchovies, mussels, yeast extracts such as Marmite, beer and game meat. The body gets rid of most of its uric acid via the kidneys in the urine and also from the bowel in the faeces.

In people with gout the uric acid levels build up and can crystallise in the joints.  This may be due to:

the body making more uric acid 

more uric acid products being consumed in the diet ( usually by eating foods high in purines) 

or if the body cannot get rid of the uric acid it makes.


This build up of uric acid in the joint causes inflammation, swelling, and severe pain. The most frequently affected joint is the big toe.  Other joints that are often affected include the hands, wrists, knees, and feet.

Although certain foods are high in purines, it is very rare that someone could consume enough purines in their diet alone to cause the uric acid levels to rise to significant levels. It is thought that people who are prone to gout tend to excrete less uric acid via their kidneys which then cause the uric acid levels to rise. This makes them more sensitive to any condition that causes uric acid levels to rise including the foods they eat.  Although the majority of people with gout have raised uric acid levels, sometimes people with normal uric acid levels can have gout attacks.  This however is rare. It is also important to remember that the majority of people with raised uric acid levels will not develop gout. However, if uric acid levels are raised then gout theoretically can develop.

Therefore there are certain risk factors that can make someone more prone to gout. For example, gout develops more often in men than in women and is more common in adults. In addition, people with type 2 diabetes, obesity, sickle cell anaemia, and kidney disease have an increased risk of developing gout.  Drugs such as cyclosporine, thiazide diuretics, and salicylates (aspirin) can interfere with uric acid excretion as can an excess of alcohol, which itself is high in purine content.  In rare instances, a person may inherit a decreased ability to breakdown purines and so be more likely to develop gout. It has also been found that having low levels of vitamin C in your diet or consuming too much fructose can increase the risk of gout. Fructose is the only carbohydrate known to increase uric acid levels and is found in high concentrations in sugar-sweetened soft drinks.

What is a Gout Attack?

An attack of gout is usually caused when the uric acid crystals deposit themselves in the joints and tissues. This normally causes sudden pain, redness and swelling in a joint. It is usually very painful, but self-limiting, and will normally resolve by itself in about a week. However,  some attacks may not be as severe as this and can sometimes make the diagnosis difficult if they lack the classical symptoms of a gout attack.

Gout must be distinguished from conditions that can cause similar symptoms:

Pseudogout, a condition caused by calcium pyrophosphate crystals 

Septic arthritis (caused by an infection in a joint) 

Rheumatoid arthritis (an autoimmune arthritis) 

Osteoarthritis (wear and tear)


The treatments of these conditions are different to those used in gout.

A gout attack may be a one off occurrence or the attacks may be recurrent. However repeat attacks may not occur for years after the initial one. Some people may be unlucky and have recurrent attacks on a regular basis. Repeat attacks tend to be more severe and affect more joints. It is more common to get repeat attacks as time goes on as the uric acid levels gradually increase.

The uric acid crystals may also deposit in the kidneys causing kidney stones and more rarely kidney damage. Occasionally, in those with persistently high levels of uric acid the crystals build up over years and form deposits called tophi. These can build up in the joints and soft tissues and can cause visible nodules through the skin that look chalky white. They are harmless, however can be painful at particular sites. Tophi caused by raised uric acid levels can also deposit in the joint themselves and if left untreated cause permanent damage to the joint. This however takes several years and is therefore uncommon as gout is normally treated before this complication develops.



                                        
                                        
    
        
            
                

                

                
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What tests are used?
Synovial fluid analysis – Fluid taken from the joint is examined for the presence of needle-like uric acid crystals, other types of crystals, and for signs of infection. This can help determine gout from other conditions such as pseudogout where a different type of crystal deposits and septic arthritis where infection is present. 

Uric acid - to detect high levels in the blood. Levels taken during an acute attack of gout may be normal as the uric acid has deposited in the joint making the blood levels fall. Therefore, your doctor may take uric acid levels 4-6 weeks after the attack for a more accurate diagnosis. 

Kidney function tests - may be used to look for evidence of kidney damage. 

Sometimes other tests, such as an RF (rheumatoid factor) or an ANA (anti-nuclear antibody) test may be requested to rule out other causes of arthritis symptoms. 

A blood culture and/or synovial fluid culture may be requested if septic arthritis (arthritis due to an infected joint) is suspected. X-rays of the affected joints may show uric acid deposits and damage from gout or show osteoarthritis which can present like gout.




                                        
                                        
    
        
            
                
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What treatments exist?
The goals of treatment are to ease pain and inflammation and to reduce uric acid levels.  Low uric acid levels make future attacks less likely and decrease the chance of further joint or kidney damage and the formation of tophi.

During attacks you may be treated with nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen or naproxen to relieve pain and inflammation. However, if you cannot take NSAIDs ( for example if you have asthma or indigestion problems) you may be given colchicine which is an alternative drug which helps relieve the symptoms. Occasionally steroids may be given if you cannot take anti-inflammatory drugs or colchicine.

To prevent future attacks lifestyle changes will be recommended. Some examples include drinking less alcohol, limiting your intake of fructose rich sugary drinks, eating only moderate amounts of high-protein foods, and drinking more water to help the kidneys flush the uric acid out of the body. If you are overweight losing weight can also help. If you are on any  medications that can cause gout they may be switched to an alternative drug where possible by your doctor.

For those who have two or more gout attacks within a year or who have clinical signs that show that the uric acid levels have been high for some time (such as those with tophi, renal stones and renal damage) medication to reduce the uric acid levels are recommended. The most commonly used drug for this purpose is allopurinol. This works by blocking the body`s production of uric acid. Other drugs such as probenecid or sulfinpyrazone, which also lower uric acid levels may also be used. Occasionally these preventative drugs may be used for patients who are at a high risk of developing high uric acid levels to prevent gout and other complications, especially cancer patients who may be on potent chemotherapy drugs.



                                        
                                        
    
        
            
                
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Also known as: diffuse thyrotoxic goiter


                                                
                                            

What is it?
Graves’ disease is the most common cause of an overactive thyroid gland (hyperthyroidism). It is caused by an antibody that acts like thyroid-stimulating hormone (TSH) and causes the thyroid gland to produce excess thyroid hormones (thyroxine (T4) and tri-idothyronine (T3)). This antibody has been given a variety of names and abbreviations including: TSH-receptor antibodies (TRAbs or TSH-Rabs), Thyroid Stimulating Immunoglobulins (TSI), Thyroid Binding Inhibiting Immunoglobulins (TBII) and Long Acting Thyroid Stimulator (LATS).

 Those most likely to have Graves` disease are women over 20 years of age. Those with the disease may have protruding eyes, weight loss, increased appetite, nervousness and may have an increased heart rate and an enlarged thyroid gland (goitre) seen in the neck. 

Tests
In addition to thyroid function tests (TSH, FT4, FT3), additional tests that can help in the diagnosis include:

Radioactive iodine uptake. A capsule or “cocktail” containing a measured amount of radioactive iodine is swallowed. This is a perfectly safe procedure. Iodine is part of the thyroid hormones and is therefore taken up by the thyroid gland and more will accumulate in the gland if the gland is overactive, as occurs in Graves’ disease. A probe which measures radioactivity, is placed over the thyroid and the amount of radioactivity detected is compared to the amount that was given. Often a radioactive substance called Technecium-99 pertechnetate is used as an alternative to radioactive iodine; it behaves like radioactive iodine but it is more convenient to use and delivers a lower radiation dose to the patient.

TSH Receptor Antibodies. In most patients with Graves’ disease the diagnosis can be made by the doctor following clinical examination together with the results of thyroid function tests and a thyroid scan. Measurement of these antibodies is therefore not always required. The measurement of TRAbs is useful when the cause of an overactive thyroid gland is unclear or in pregnancy when hyperthyroidism is suspected. Early in a normal pregnancy human chorionic gonoadotrophin (hCG) levels are high and some women have a brief period of mild hyperthyroidism due to the stimulating, TSH-like activity, of HCG but this is often not recognised by the mother. This brief period of mild hyperthyroidism is not harmful to the mother or her unborn baby. However, in pregnant patients with Graves’ disease the TRAbs antibodies may cross the placenta, over-stimulate the foetal thyroid gland, which may lead to miscarriage or poor growth of the baby. Since anti-thyroid drugs also cross the placenta, they treat both the maternal and foetal hyperthyroidism and it is essential to identify those pregnant women who have hyperthyroidism due to Graves’ disease. A high concentration of TRAbs towards the end of pregnancy can indicate thyroid disease (thyrotoxicosis) in the baby. Antibodies may also be present in patients who do not have thyroid disease or who have underactive thyroid glands (hypothyroidism) following treatment of Graves’ disease. 
 The measurement of TRAbs is helpful a) to identify Graves’ disease in pregnant women with hyperthyroidism, and b) in pregnant women who have a past history of Graves disease.

Anti-thyroid peroxidase antibody. This autoantibody is found in most people with Graves’ disease, as well as in Hashimoto’s thyroiditis


Treatment 
Treatment is designed to reduce the amount of thyroid hormones produced by the thyroid gland. Beta-blockers, such as propranolol, may relieve rapid heart rate, sweating, and anxiety caused by increased activity. Drugs that reduce thyroid hormone production (antithyroid drugs) are often given initially. A large dose of radioactive iodine may then be given to try to destroy most of the thyroid gland, eliminating the symptoms of hyperthyroidism. Sometimes surgery to remove most of the thyroid gland is used. Usually the protrusion of the eyes decrease as the hormone concentrations are lowered.



                                        
                                        
    
        
            
                

                

                
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Tests:
Also known as: diffuse thyrotoxic goiter


                                                
                                            

What is it?
Graves’ disease is the most common cause of an overactive thyroid gland (hyperthyroidism). It is caused by an antibody that acts like thyroid-stimulating hormone (TSH) and causes the thyroid gland to produce excess thyroid hormones (thyroxine (T4) and tri-idothyronine (T3)). This antibody has been given a variety of names and abbreviations including: TSH-receptor antibodies (TRAbs or TSH-Rabs), Thyroid Stimulating Immunoglobulins (TSI), Thyroid Binding Inhibiting Immunoglobulins (TBII) and Long Acting Thyroid Stimulator (LATS).

 Those most likely to have Graves` disease are women over 20 years of age. Those with the disease may have protruding eyes, weight loss, increased appetite, nervousness and may have an increased heart rate and an enlarged thyroid gland (goitre) seen in the neck. 

Tests
In addition to thyroid function tests (TSH, FT4, FT3), additional tests that can help in the diagnosis include:

Radioactive iodine uptake. A capsule or “cocktail” containing a measured amount of radioactive iodine is swallowed. This is a perfectly safe procedure. Iodine is part of the thyroid hormones and is therefore taken up by the thyroid gland and more will accumulate in the gland if the gland is overactive, as occurs in Graves’ disease. A probe which measures radioactivity, is placed over the thyroid and the amount of radioactivity detected is compared to the amount that was given. Often a radioactive substance called Technecium-99 pertechnetate is used as an alternative to radioactive iodine; it behaves like radioactive iodine but it is more convenient to use and delivers a lower radiation dose to the patient.

TSH Receptor Antibodies. In most patients with Graves’ disease the diagnosis can be made by the doctor following clinical examination together with the results of thyroid function tests and a thyroid scan. Measurement of these antibodies is therefore not always required. The measurement of TRAbs is useful when the cause of an overactive thyroid gland is unclear or in pregnancy when hyperthyroidism is suspected. Early in a normal pregnancy human chorionic gonoadotrophin (hCG) levels are high and some women have a brief period of mild hyperthyroidism due to the stimulating, TSH-like activity, of HCG but this is often not recognised by the mother. This brief period of mild hyperthyroidism is not harmful to the mother or her unborn baby. However, in pregnant patients with Graves’ disease the TRAbs antibodies may cross the placenta, over-stimulate the foetal thyroid gland, which may lead to miscarriage or poor growth of the baby. Since anti-thyroid drugs also cross the placenta, they treat both the maternal and foetal hyperthyroidism and it is essential to identify those pregnant women who have hyperthyroidism due to Graves’ disease. A high concentration of TRAbs towards the end of pregnancy can indicate thyroid disease (thyrotoxicosis) in the baby. Antibodies may also be present in patients who do not have thyroid disease or who have underactive thyroid glands (hypothyroidism) following treatment of Graves’ disease. 
 The measurement of TRAbs is helpful a) to identify Graves’ disease in pregnant women with hyperthyroidism, and b) in pregnant women who have a past history of Graves disease.

Anti-thyroid peroxidase antibody. This autoantibody is found in most people with Graves’ disease, as well as in Hashimoto’s thyroiditis


Treatment 
Treatment is designed to reduce the amount of thyroid hormones produced by the thyroid gland. Beta-blockers, such as propranolol, may relieve rapid heart rate, sweating, and anxiety caused by increased activity. Drugs that reduce thyroid hormone production (antithyroid drugs) are often given initially. A large dose of radioactive iodine may then be given to try to destroy most of the thyroid gland, eliminating the symptoms of hyperthyroidism. Sometimes surgery to remove most of the thyroid gland is used. Usually the protrusion of the eyes decrease as the hormone concentrations are lowered.



                                        
                                        
    
        
            
                

                

                
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Also known as: Infectious polyneuritis; Acute inflammatory demyelinating polyneuropathy; Landry`s ascending paralysis


                                                
                                            

What is Guillain-Barré Syndrome?
Guillain-Barré Syndrome (GBS) is an acute condition associated with progressive muscle weakness and paralysis. It is an autoimmune disorder in which the body`s immune system attacks its own nervous system. This causes inflammation that damages or destroys the myelin sheaths covering and insulating nerve fibres (axons) and sometimes damages the fibres themselves. Thus there are both axonal and demylinating subtypes of GBS.The  demyelination process slows or stops the conduction of impulses through the nerve, interfering with motor control and causing symptoms such as tingling or numbness that typically start in the hands and feet and move progressively upward, affecting both sides of the body. GBS is a medical emergency and must be closely monitored. Those affected may become so weak that they have trouble breathing and their heart rate may become abnormal.

Guillain-Barré syndrome is a relatively rare condition, but it is the most common acquired inflammatory neuropathy and the most common causes of acute paralysis. According to the National Institute of Neurological Disorders and Stroke (NINDS), about 1 person in 100,000 will have GBS. It can affect anyone at any age but it increases in incidence with age and there is a small predominance of males. Sensory symptoms in the legs usually mark the onset of the disease followed by rapidly progressive distal weakness that soon spreads proximally. It is an unusual neuropathy in that it spontaneously reverses, and most patients recover most or all of the lost nerve and muscle function.

The exact cause of GBS and why it affects one person and not another is not well understood. The autoimmune process may be spontaneous or may be triggered by some specific disease or exposure. Infections are recognised  as being important in triggering GBS and GBS  is considered an immunological response to these. Antibodies against peripheral nerve gangliosides (sugar molecules) are recognised as an important mechanism of nerve damage. Many cases have been linked with a viral or bacterial infection that occurs a week or two before GBS develops. Cases have also been seen in people with HIV infection, in those with chronic diseases such as lupus (SLE), Hodgkin lymphoma (and some other malignancies), and rarely in those who have recently had a vaccination (such as for rabies or swine flu). Studies have shown that Campylobacter jejuni, Epstein Bar virus, and Cytomegalovirus are the most frequent triggering infections. Something happens during these infections that leads to a change in the immune system`s ability to discriminate between ``self`` and ``non-self.`` Damage to the myelin sheath and nerve is thought to involve antibodies that mistakenly target these tissues.



                                        
                                        
    
        
            
                

                

                
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Sym:
Signs and Symptoms
Signs and symptoms can progress relatively quickly once they appear. They typically start in the feet and/or hands and spread upward to the legs, arms and trunk. At first they may include:

Tingling or pins-and-needle sensations

Numbness

Tenderness

Weakness, especially in the legs

Muscle spasms

Loss of coordination

Loss of reflexes


More serious symptoms, some of which may require emergency medical assistance, include:

Paralysis

Difficulty breathing and/or swallowing

Abnormal heart rate


In most cases, symptoms develop over hours to days and may continue to worsen for up to a month, after which they slowly resolve. Up to 30% of those affected may still have some lingering weakness after 3 years, and a small percentage may have a relapse years later.



                                        
                                        
    
        
            
                
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Tests:
Tests
Patient history is important in diagnosis. The progression of ascending paralysis – starting with feet or hands and advancing upward – is a typical presentation. About 50% of cases also include a history of a recent mild infection or illness like a sore throat, a cold, the flu, or diarrhoea. Several tests are commonly used to diagnose or confirm the disease and, sometimes, to monitor recovery.

Cerebrospinal fluid (CSF) analysis – to identify the presence of increased protein; for this test, a needle is inserted into the spine between vertebrae and a small amount of fluid is withdrawn. While some protein is normally present, an increased amount without an increase in the white blood cells in the CSF may be indicative of Guillain Barré syndrome.

Nerve conduction velocity – tests the speed at which impulses travel through a nerve; the nerve conduction velocity test uses electrodes placed on the skin over peripheral nerves and measures the amount of time it takes for an impulse to travel between electrodes.

Electromyography (EMG) – measures the electrical activity of muscles fibres; the EMG test measures the electrical activity within muscle fibres by placing a needle electrode through the skin directly into the muscle and measuring the electrical activity of that muscle. It is usually done in conjunction with a nerve conduction velocity test.


There are several variants of GBS that are associated with specific signs and symptoms and with the production of different types of antibodies directed against gangliosides. Ganglioside autoantibody tests are particularly useful in helping to distinguish these disorders, the most common autoantibodies being anti-GQ1B and anti-GM1. These are specialised tests and are performed within Immunology laboratories.

Other testing may be performed to help distinguish GBS from other causes of weakness, neuropathy, and immune dysfunction and to monitor the person`s health status during illness and recovery.



                                        
                                        
    
        
            
                
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Overview
Haemochromatosis, also called iron overload, can result from several medical conditions, the most common of which is an inherited disorder of iron metabolism that occurs mainly in white skinned people (Caucasians), termed hereditary haemochromatosis or HH. 

Iron is absorbed from the diet through the small intestine, and the amount absorbed is determined by the body`s needs. People with hereditary haemochromatosis absorb more iron than their body needs. As the body does not have a way to increase removal of the excess iron, there is a gradual build-up of the excess iron in tissues and organs. This can lead to organ disease and failure. The symptoms of hereditary haemochromatosis occur in adults; early symptoms include tiredness and generally not feeling well.  As it gets worse,  complications can include arthritis, diabetes, liver cirrhosis, heart arrhythmias and failure, loss of libido, and an increase in skin pigmentation termed ``bronzing.`` 

Approximately 1 in 10 caucasians (white skinned people) have one abnormal (or mutated) copy of the gene associated with hereditary haemochromatosis and are referred to as carriers. Carriers are not at particular risk for developing iron overload.  Between 1 in 200 and 1 in 400 caucasians have two abnormal (or mutated) copies of the gene associated with HH and are at risk for developing iron overload and clinical symptoms. Research is going on to find out what percentage of individuals with two abnormal gene copies develop iron overload and symptoms of disease. 

Laboratory investigation for hereditary haemochromatosis usually begins with two blood tests: transferrin saturation and serum ferritin, which are measures of the body`s iron metabolism and the amount of iron it has stored. Confirmatory tests can include a genetic test and a liver biopsy. The latter can be used to find out if damage to liver tissue called fibrosis or cirrhosis has occurred. 

Treatment of hereditary haemochromatosis consists of removing a pint of blood from the patient at frequent intervals since blood is rich in iron and this will reduce body iron stores. The frequency and length of treatment depend on the degree of iron overload. Once iron levels have returned to normal, blood can be removed at longer intervals.

Genetic tests for haemochromatosis
Nearly all people with haemochromatosis will carry identifiable variants in the HFE gene, confirmed by a blood test, which can then be used in identifying family members who are at risk. Most affected individuals will have two copies of a variant called C282Y. Some will have one copy of C282Y and one called H63D. People with two copies of H63D do not seem to be at particular risk of iron overload themselves.



                                        
                                        
    
        
            
                

                

                
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Tests:
Overview
Haemochromatosis, also called iron overload, can result from several medical conditions, the most common of which is an inherited disorder of iron metabolism that occurs mainly in white skinned people (Caucasians), termed hereditary haemochromatosis or HH. 

Iron is absorbed from the diet through the small intestine, and the amount absorbed is determined by the body`s needs. People with hereditary haemochromatosis absorb more iron than their body needs. As the body does not have a way to increase removal of the excess iron, there is a gradual build-up of the excess iron in tissues and organs. This can lead to organ disease and failure. The symptoms of hereditary haemochromatosis occur in adults; early symptoms include tiredness and generally not feeling well.  As it gets worse,  complications can include arthritis, diabetes, liver cirrhosis, heart arrhythmias and failure, loss of libido, and an increase in skin pigmentation termed ``bronzing.`` 

Approximately 1 in 10 caucasians (white skinned people) have one abnormal (or mutated) copy of the gene associated with hereditary haemochromatosis and are referred to as carriers. Carriers are not at particular risk for developing iron overload.  Between 1 in 200 and 1 in 400 caucasians have two abnormal (or mutated) copies of the gene associated with HH and are at risk for developing iron overload and clinical symptoms. Research is going on to find out what percentage of individuals with two abnormal gene copies develop iron overload and symptoms of disease. 

Laboratory investigation for hereditary haemochromatosis usually begins with two blood tests: transferrin saturation and serum ferritin, which are measures of the body`s iron metabolism and the amount of iron it has stored. Confirmatory tests can include a genetic test and a liver biopsy. The latter can be used to find out if damage to liver tissue called fibrosis or cirrhosis has occurred. 

Treatment of hereditary haemochromatosis consists of removing a pint of blood from the patient at frequent intervals since blood is rich in iron and this will reduce body iron stores. The frequency and length of treatment depend on the degree of iron overload. Once iron levels have returned to normal, blood can be removed at longer intervals.

Genetic tests for haemochromatosis
Nearly all people with haemochromatosis will carry identifiable variants in the HFE gene, confirmed by a blood test, which can then be used in identifying family members who are at risk. Most affected individuals will have two copies of a variant called C282Y. Some will have one copy of C282Y and one called H63D. People with two copies of H63D do not seem to be at particular risk of iron overload themselves.



                                        
                                        
    
        
            
                

                

                
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Also known as: Chronic thyroiditis; autoimmune thyroiditis 


                                                
                                            

                                            What is it? 
Hashimoto’s thyroiditis is an inflammation of the thyroid gland (thyroiditis) that frequently results in hypothyroidism, or decreased thyroid gland function. It is the most common form of thyroiditis and most frequent cause of hypothyroidism.

This disorder is caused by a reaction of the immune system against the thyroid gland. When the immune system targets part of the human body such as the thyroid gland, this is called an autoimmune disease. It may occur in people with a family history of thyroid diseases or with other autoimmune diseases, especially type 1 diabetes or reduced adrenal gland function. Lymphocytes (a type of white blood cell) move into the gland. These and thyroid antibodies slowly destroy the gland eventually leading to symptoms though this process can take many years. Symptoms are those of hypothyroidism, such as weight gain, increased sensitivity to cold, and fatigue; in addition, the thyroid may be markedly enlarged, in many cases causing a visible goitre, firm and rubbery but is not usually tender. It affects about 1 in 100 people in the population and is about 10 times more common in women than in men, most commonly affecting women in middle age. 


Tests 
Laboratory tests used to diagnose the disorder (in addition to thyroid function tests: TSH, T4, T3):

Anti-thyroid peroxidase (anti-TPO) antibody (positive; detects the presence of antibodies against a protein found in thyroid cells). These antibodies are not normally present, so a high value usually indicates autoimmune damage to the thyroid, including Hashimoto`s thyroiditis and Graves’ disease


Treatment 
The treatment of Hashimoto`s thyroiditis and any other cause of an underactive thyroid gland is with thyroid hormone, usually in the form of thyroxine. This treatment is called replacement therapy and is tailored and modified to meet the individual patient`s requirements, guided by how the symptoms respond and the results of blood tests. Symptoms caused by an underactive thyroid gland usually respond well to thyroid hormone replacement therapy but in patients over 50 years or in those with heart disease it is usual to start on a very low dose and very slowly increase it until the appropriate dose is reached. It is usual to take thyroxine in the morning on an empty stomach although one recent study suggested that more thyroxine is absorbed in to the body if it is taken at bedtime.

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info:
Overview
A heart attack (also called a myocardial infarction or MI) occurs when a clot forms in one of the heart`s coronary arteries and blocks the blood supply to part of the heart muscle. The blood clot develops on a narrowing of the coronary artery caused by fat deposition called atherosclerosis or atheroma. The blockage destroys heart tissue and can be fatal if not treated within an hour or two.

The acute coronary syndrome (ACS) is a group of symptoms and signs including sudden chest pain which often spreads to the jaw, arm or shoulder caused by insufficient blood flow to heart muscle. Anyone with ACS should be taken to hospital as an emergency to find out whether the cause is a heart attack, unstable angina or a problem outside the heart. The tests done in patients presenting to hospital with a suspected heart attack often include an electrocardiogram (ECG) and measurement of heart muscle proteins in blood.

There are two main lines of treatment to restore the heart muscle’s blood supply after a heart attack: drugs to dissolve the clot and surgery called coronary angioplasty to widen the coronary artery.



                                        
                                        
    
        
            
                

                

                
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Sym:
Symptoms and signs
Symptoms of the acute coronary syndrome (ACS) may include:

A pressing or squeezing pain in the centre of the chest, sometimes spreading to the jaw, arm, back or abdomen

shortness of breath, sometimes coughing or wheezing

feeling sick and light headed

a great feeling of anxiety

Signs may include a rapid pulse, low blood pressure, pallor of the skin and sweating.

In some cases the pain is minor and can be mistaken for indigestion. Symptoms may occur without any chest pain, particularly in older individuals and in those with diabetes.  In women symptoms are often less dramatic and more likely to be misinterpreted as due to another cause than in men.

If you experience these symptoms, dial 999 immediately for an ambulance. Do not worry if you are uncertain whether you are having a heart attack. Between 60% and 80% of patients taken to hospital with chest pain are found not to have had a heart attack. Paramedics would rather be called out to a false alarm than arrive too late to save a life.

If someone who complains of severe chest pain becomes unconscious and no pulse can be felt, it is likely to be due to a cardiac arrest caused by a heart attack. Their life could be saved if cardiopulmonary resuscitation is commenced and performed until the paramedics arrive. Find out how here.



                                        
                                        
    
        
            
                
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Tests:
Tests
When a person with the acute coronary syndrome (ACS) arrives as an emergency at hospital, a number of tests are done urgently to help decide whether the cause is a heart attack, unstable angina or a problem outside the heart.

An electrocardiogram (ECG) is performed within the first few minutes.  Those who have a major clot completely blocking a coronary artery and damaging a large area of heart muscle tissue show the most severe changes in the ECG tracing, with a part of the line called the ST segment elevated above the baseline. This is called an ST segment elevation myocardial infarction or STEMI. More commonly the block is only partial, less muscle is damaged and the ST segment is not elevated. This is called a non-STEMI or NSTEMI. Unstable angina is a less serious form of ACS. The blood supply to the heart muscle is severely restricted but there is usually no permanent damage.

Patients with ACS who have no ST segment elevation need blood tests to find out whether they have a non-STEMI, unstable angina or a non-cardiac condition.  When heart muscle cells die they release proteins (cardiac biomarkers) into the blood. Raised levels can detect a heart attack, provide an indication of how much muscle has been damaged and also give an indication of response to treatment. The blood tests that are most specific for heart muscle damage are creatine kinase-MB (CK-MB) and cardiac troponins T and I (cTnT and cTnI). CK-MB in blood begins to rise four to six hours after a heart attack, is highest after about 18 to 24 hours and returns to normal in about 2 to 3 days. The troponins are not detectable in health but appear in the blood three or four hours after an attack and remain high for 10 to 14 days.

Newly developed high sensitivity troponin tests such as hs-cTnT have measurable values in many healthy people. Recent research suggests that if hs-cTnT is normal two hours after the onset of chest pain and copeptin, a hormone that increases rapidly in the blood in response to any stress, is not raised then the diagnosis of MI can be safely ruled out, allowing early discharge from the emergency department (see News Item 24 November 2011).

Other tests that may be done include a chest X-ray to exclude air between the lung and the lining of the chest wall (pneumothorax) and to look for fluid accumulation in the lungs (pulmonary oedema). Echocardiography can help identify the area of heart damage and its effect on heart function.



                                        
                                        
    
        
            
                
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What is it?
Heart disease is a general term that refers to a variety of acute and chronic medical conditions that affect one or more of the components of the heart. The heart is a muscular, fist-sized organ that is located in the centre of the chest cavity. It continuously pumps blood, beating as many as 100,000 times a day. The blood that the heart moves carries oxygen and nutrients throughout the body and transports carbon dioxide and other wastes to the lungs, kidneys and liver for removal. The heart ensures its own blood supply through a set of coronary arteries and veins. The heart is also an endocrine organ that produces the hormones atrial natriuretic peptide (ANP) and B-natriuretic peptide (BNP) which coordinate heart function with blood vessel and kidney function.

The heart is hollow. It is divided vertically into two halves by a septum, and each side of the heart has two internal chambers – an atrium on top and a ventricle on the bottom. Venous blood enters the right side of the heart through the right atrium and is pumped by the right ventricle to the lungs, where carbon dioxide is released and oxygen acquired. Oxygenated blood from the lungs is transported to the left atrium and is pumped by the left ventricle into arteries that carry it throughout the body. Four heart valves regulate the direction and flow of blood through the chambers of the heart. It is their opening and shutting that gives the heart beat its characteristic “lub-dub” sound. The heart muscle itself is called the myocardium. Lining the chambers of the heart and the valves is a membrane called the endocardium. Encasing the outside of the heart is the pericardium – a layered membrane that is fibrous on the outside and serous (fluid-secreting) on the inside. The pericardium forms a protective barrier around the heart and allows it to beat in a virtually friction free environment.

Diseases affecting the heart may be structural or functional. Anything that damages the heart or decreases the heart’s supply of oxygen makes it less efficient, reduces its ability to fill and pump, and disrupts its coordinating relationship with blood vessels and the kidneys, so harming not only the heart but the rest of the body as well.



                                        
                                        
    
        
            
                

                

                
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Sym:
Signs and Symptoms
Heart diseases may be acute or chronic. They may be transitory, relatively stable or progressive. They may cause a variety of signs and symptoms that frequently change over time. Chronic heart diseases can have periods with acutely worsened symptoms; these may resolve (either on their own or with treatment), persist, or even become life threatening. Patients with early heart disease may experience few or vague symptoms, such as fatigue, shortness of breath with or without exercise, dizziness and/or nausea; however, these symptoms do not indicate any particular type of heart disease and may also be seen in a variety of other conditions. Other signs and complications that may arise from heart disease include:

Arrhythmia – an irregular heartbeat 

Dilatation – stretching of one or more of the heart chambers, causing their interior to become larger because of increased pressure

Embolism – blockage of a blood vessel by material that has travelled from a distant body site, most often a blood clot, but it can be due to fat or air or even amniotic fluid and cells

Inability to keep up with increased demands for oxygen and clearance of waste products, such as during physical activity

Infarction – death of muscle cells due to blockage of blood flow leading to scarring

Insufficient contraction – not emptying or filling completely

Pain, frequently due to ischaemia – a lack of sufficient oxygen because of reduced blood flow

Valve prolapse – part of the heart valve protrudes into the atrium, preventing a tight seal, which may lead to regurgitation and an increased risk of endocarditis

Valve regurgitation – a backflow of blood causing increased pressure in the blood vessels of the lungs and liver

Valve stenosis – narrowing of the opening which affects blood flow 

Ventricular hypertrophy – increased thickness of the walls of the heart, causing a decrease in the size of the chambers and also a decrease in the flexibility of the heart


Heart diseases may be due to:

Alcohol use

Anabolic steroid use

Atherosclerosis

Autoimmune conditions 

Bacterial infection

Cocaine use

Congenital abnormalities (present at birth)

Diabetes

Diet, especially when high in saturated fat and cholesterol

Hypertension

Injury or trauma

Sedentary lifestyle

Smoking

Thyroid dysfunction (under and overactive)

Toxins, such as mercury, and sometimes chemotherapy drugs or HIV/AIDS drugs 

Viral infection




                                        
                                        
    
        
            
                
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Common Heart Diseases
Coronary artery disease (CAD) causing coronary heart disease (CHD) is the most common forms of heart disease. It is part of a general cardiovascular disease (CVD) – a narrowing of arteries in the heart and throughout the body over time due to a build-up of fatty deposits that form plaques (atherosclerosis). This narrowing can significantly limit the amount of blood carried by the arteries and decrease the amount of oxygen supplied to the tissues. As the coronary blood vessels gradually narrow, symptoms do not appear until most of the blood flow is lost to an area of the heart, when it can cause intermittent chest pain upon exercise (angina) that worsens in frequency and severity over time. When plaques suddenly enlarge (termed unstable plaques), an acute narrowing of the coronary artery can cause chest pain to develop at rest or with minimum exertion (termed unstable angina) or can even cause death of an area of the myocardium or heart attack (myocardial infarction); these forms of acute onset of chest pain are termed the acute coronary syndrome.

Heart failure, usually called congestive heart failure (CHF), causes the heart to become less effective at circulating blood and less able to completely fill or empty the chambers. As a result blood backs up into the veins of the legs, lungs and liver, causing swelling, shortness of breath and fatigue. Any gradual damage to the heart can lead to heart failure over time; most commonly it is due to coronary artery disease, high blood pressure (hypertension) or heart valve damage (which can be either congenital or due to an infection) or a previous heart attack. If the cause is temporary, heart failure may also be temporary; however it is usually a chronic condition that worsens over time, often improving after treatment. 

Cardiomyopathy is an abnormality of the heart muscle. One or more chambers of the heart may dilate (dilated cardiomyopathy), causing an enlargement in the size of one of the chambers of the heart.  In other cases, one or more of walls of the heart may thicken (hypertrophic cardiomyopathy). Occasionally, cardiomyopathy may also be due to abnormal material accumulating in the wall of the heart, reducing the flexibility of the walls of the ventricles (restrictive cardiomyopathy).  Cardiomyopathy may be due to decreased blood flow to the heart, exposure to chemicals that damage the heart (such as alcohol and cocaine, and some drugs used to treat cancer or other conditions), to inherited muscle problems, to potassium or thiamine deficiency or it may have no obvious cause (called idiopathic cardiomyopathy).

Myocarditis refers to inflammation of the muscle of the heart.  It usually presents with an acute onset of shortness of breath or an irregular heart beat, and can cause heart failure to develop quickly.  It is often due to a viral infection.

Pericardial disease is a disease of the sac surrounding the heart. It may be due to a bacterial or fungal infection, trauma, an autoimmune process, cancer or a previous heart attack. Infections of the pericardium may quickly become serious if left untreated. Pericarditis, an inflammation of the pericardium, may cause increased friction “rub” and pain in the chest.

Congenital heart disease, which arises during foetal development, may affect any part of the heart. The amount of dysfunction depends on what form the abnormality takes and the extent to which it alters the shape, integrity and function of the heart.

Endocarditis is an inflammation of the membrane lining the heart and heart valves. It may be due to a microorganism or to an autoimmune process. When it is due to an infection, it is often difficult to treat.



                                        
                                        
    
        
            
                
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What is hepatitis
Hepatitis is an inflammation of the liver that is most commonly caused by viruses but may also be due to chemicals, drugs, alcohol, inherited diseases, or autoimmune disease. The inflammation can be acute, flaring up and then resolving within a few weeks to months, or chronic, enduring over many years. Chronic hepatitis may persist for 20 years or more before causing significant symptoms related to progressive liver damage such as cirrhosis, liver cancer, or death.

The liver is a vital organ located in the upper right-hand side of the abdomen. It performs many functions in the body, including processing the body`s nutrients, manufacturing bile to help digest fats, synthesising many important proteins, regulating blood clotting, and breaking down potentially toxic substances into harmless ones that the body can use or excrete. Inflammation may (in severe cases) interfere with these processes and allow potentially toxic substances to accumulate. The following table summarizes some common types of hepatitis. Click on the links to read more about the various types.

Type of Hepatitis
Description
Examples of Causes
Viral
Infection with one of the hepatitis viruses causes inflammation; may be acute or chronic depending on the virus.
In the UK, most common causes are hepatitis A, B and C viruses.
Chemical or drug induced
The liver processes many substances for the body to use and/or then eliminate. Some of these substances are toxic to the liver and can result in hepatitis.
Acute or chronic exposure to alcohol, acetaminophen
Inherited
Certain gene mutations that are passed from one generation to the

Sym:
Signs and Symptoms
The signs and symptoms of hepatitis are the same, regardless of the cause, but vary from person to person and may vary over time. Many people have few, mild, and/or vague symptoms that may be mistaken for  flu. Some of the more common signs and symptoms include:

Fatigue 

Nausea 

Abdominal pain 

Joint aches 

Itching 

Jaundice


Some may experience additional symptoms such as loss of appetite, dark coloured urine, or light coloured stools. More serious complications can involve accumulation of fluid in the abdomen (ascites) and mental confusion.

A physical examination may reveal a liver that is tender and enlarged. Chronic hepatitis usually causes no symptoms or may be noticeable as only a loss of energy and tiredness. In some people, chronic hepatitis can gradually damage the liver and, after many years, cause liver failure. The chronic form typically lasts for many years and only rarely goes away without treatment.



                                        
                                        
    
        
            
                
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Laboratory Tests
There are several laboratory tests that may be used in cases of known or suspected hepatitis. These tests may be used for various reasons and may fall into one or more of these categories:

General chemistry tests used to detect liver inflammation and/or damage 

Screening tests used to detect Viral Hepatitis; for example, screening for exposure to hepatitis B or hepatitis C may be done because of increased risk of the disease (use of illegal drugs, multiple sex partners) or at the time of blood donation. 

Tests used to help diagnose the underlying cause 

Follow-up tests used to monitor progression of hepatitis and/or help guide treatment


Acute hepatitis is often suspected and tested for because of the appearance of symptoms such as fever, loss of appetite, and nausea, often accompanied by dark urine, pale stools, and yellow discolouration of the skin and the whites of the eyes (jaundice or icterus).

Chronic hepatitis is more commonly detected as a result of abnormal routine test results. In a patient who is having no, few, or vague symptoms, hepatitis may be first discovered during routine blood testing.

Tests may be used both to detect liver injury and to give an indication of how severe it may be. Some of these are listed below:

Alanine aminotransferase (ALT) - an enzyme found mainly in the liver; the best test for detecting hepatitis 

Aspartate aminotransferase (AST) – an enzyme found in the liver and a few other places, particularly the heart and other muscles 

Alkaline phosphatase (ALP) – an enzyme related to the bile ducts; often increased when they are blocked, but may also be increased with bone disorders 

Gamma-glutamyl transpeptidase (GGT) - an enzyme found in the liver that is very sensitive to changes in liver function; helps to differentiate between the causes of an elevated ALP; if GGT is increased, then the elevated ALP is due to liver, not bone disease. 

Bilirubin - a waste product made from the breakdown of old blood cells; it is a yellow compound that causes jaundice and dark urine when present in increased amounts. 

Albumin - measures the main protein made by the liver and tells how well the liver is making this protein 

Total Protein - measures albumin and all other proteins in blood, including antibodies made to help fight off infections 

Prothrombin time (PT). This test may be requested in a person with hepatitis or suspected hepatitis. Proteins used in the formation of a blood clot (coagulation factors) are mostly produced by the liver, and prolonged PT may indicate the severity of liver damage. 

A liver biopsy, in which a needle is inserted into the liver to withdraw a small amount of cells that are examined under a microscope by a Histopathologist, is the most definitive way to diagnose the disease. Since this is an invasive procedure, it is used primarily when other tests are inconclusive or to determine how much damage to the liver has occurred.


For information on laboratory tests used for specific types of hepatitis, click on the links found in the Table on the Overview page.

Imaging tests such as ultrasound and specialized X-rays may be used to evaluate the liver, detect hepatitis, help make a diagnosis, and help determine a cause of liver injury.



                                        
                                        
    
        
            
                
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info:
What is it?
Hypertension is persistently high pressure in the arteries that can, over time, cause damage to organs such as the kidneys, brain, eyes, and heart. Arterial blood pressure, the amount of force blood exerts on the walls of the arteries, depends on the force and rate that the heart contracts as it pumps oxygenated blood from the left ventricle (compartment) of the heart into the arteries and the resistance to that flow. The amount of resistance depends on the elasticity and diameter of the smaller blood vessels and how much blood is flowing through them.

Blood pressure is dynamic; it rises and falls depending on a person’s level of activity, the time of day, and physical and emotional stresses. It is largely regulated by the autonomic nervous system changing the rate that the heart beats and the diameter of small blood vessels. Hormones like adrenaline produced by the adrenal glands and angiotensin II produced by the kidneys also constrict small blood vessels. Another hormone produced by the adrenal glands, aldosterone, alters blood pressure by affecting the amount of sodium, potassium and fluids excreted by the kidneys. When one or more of these regulating processes is not able to respond appropriately, blood  pressure may become persistently high.

Two pressures are recorded when blood pressure is measured. Systolic pressure is the peak force on the blood vessel walls when the heart is contracting, and diastolic pressure is the pressure present when the heart is relaxing between beats. Both pressures are measured in millimetres of mercury (mm Hg) and are expressed as systolic over diastolic pressure. For instance, a blood pressure of 120/80 mm Hg corresponds to a systolic pressure of 120 and a diastolic pressure of 80 and would be spoken of as 120 over 80.

Usually diastolic pressure mirrors systolic pressure, but as people get older the diastolic changes less than systolic pressure and hypertension due to high systolic pressure (called isolated systolic hypertension) becomes more common. In general, the higher the blood pressure and the longer the period of high pressure, the greater the likelihood of damage.

Blood pressures in adults are generally classified as follows:

Normal blood pressure - a systolic of less than 120 and a diastolic of less than 80 mm Hg (or 90 mm Hg in the elderly).

Mild hypertension - a systolic pressure of 120-139 and/or a diastolic of 80-89 mm Hg. This usually responds to lifestyle changes like reducing salt intake and taking more exercise. 

Moderate hypertension- a systolic of 140-179 and/or a diastolic of 90-109 mm Hg. A number of measurements are likely to be made to confirm these values which usually require drug treatment in addition to lifestyle changes. 

Severe hypertension - a systolic over 180 and/or a diastolic over 110 mm Hg. This will almost certainly require referral to a specialist for urgent investigation and treatment. 


Blood pressure in children is assessed differently than in adults, and is compared with the 95th percentile values in children of the same age, height and sex.



                                        
                                        
    
        
            
                

                

                
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Sym:
Signs and Symptoms
Occasionally high blood pressure causes headaches, but in most cases there are no symptoms until it begins to damage body organs. For this reason hypertension is sometimes referred to as the “silent killer,” quietly increasing the risk of developing stroke, heart disease, heart attack, kidney damage, and blindness. Very high blood pressure may cause breathlessness, blurred or double vision and nose bleeds as well as a persistent headache.

Because hypertension is both a quiet and a common condition, blood pressure is often measured each time a patient sees their doctor. Nearly a third of UK residents with high blood pressure do not know about it and are not being treated.



                                        
                                        
    
        
            
                
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Tests:
Causes of hypertension
Essential hypertension 
In most cases the cause of hypertension is not known. This form of high blood pressure is called essential or primary hypertension. It can affect anyone, but is found more frequently in men and more often in people of African-Caribbean origin and in South Asians who live in the UK than in the rest of the UK population. It becomes more common in everyone with increasing age and it tends to run in families.

Although it may not be possible to identify the cause, there are several things that are known to increase the risk of developing hypertension and to make it worse it when it is present. These include:

Obesity

A lifestyle with little exercise 

Smoking

Excessive use of alcohol 

Excessive dietary salt (sodium)

Stress


Secondary hypertension
Hypertension may also be due to identifiable causes. This form of high blood pressure is called secondary hypertension. It is important to identify these conditions as they may be treatable, allowing the blood pressure to return to normal or near normal levels. These causes include:

Kidney disease or damage – this decreases the removal of salts and fluids from the body and increases blood volume and pressure. Since hypertension can also cause kidney damage, the problem can get progressively worse if left untreated.

Narrowing of the arteries supplying the kidneys by atheroma (atherosclerosis)

Diabetes – over time this condition can damage the kidneys and the blood vessels.

Cushing’s syndrome – a disease with increased production of the hormone cortisol by the adrenal gland.

Hyperaldosteronism (Conn`s syndrome) – a condition with overproduction of aldosterone, a hormone that helps regulate the removal of sodium by the kidneys; it may be due to an adrenal gland tumour which is usually benign.

Phaeochromocytoma – a rare and usually benign tumour of the adrenal gland that produces excessive amounts of adrenaline, a hormone that the body uses to help it respond to stress; affected patients often have episodes of severe hypertension.

Thyroid disease – both excessive and deficient thyroid hormone production can cause increased blood pressure

Primary hyperparathyroidism – increased activity of parathyroid gland tissue increases plasma calcium which can be associated with hypertension.

Pregnancy – hypertension may develop at any time during a woman’s pregnancy but is most common in the last three months, when it can cause pre-eclampsia, a condition when blood pressure is increased and fluids are retained.

Oral contraceptives (rarely)

Non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen

Recreational drugs such as cocaine and the amphetamines




                                        
                                        
    
        
            
                
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Overview
Human Papillomavirus (HPV) is a sexually transmitted disease. There are more than 20 known sexually transmitted diseases (STDs). Some of them will cause symptoms that should be brought to the attention of a doctor immediately. However, some of these STDs can be ``silent`` — a person could have the disease but might not notice any symptoms of the infection. Therefore, it is important to be tested for STDs if you take part in unprotected oral, genital, or anal sex.

The most common STDs are listed below:

Gonorrhoea. This bacterial infection at first may cause a slight discharge from the vagina, penis, or anus. However, 50% of women and 10% of men with gonorrhoea have no symptoms at all. If the infection is not treated, it can lead to sterility and other complications. Gonorrhoea can be treated with antibiotics. 

Chlamydia. Chlamydia trachomatis is often called ``the silent epidemic`` because infections are common yet many people do not realize that they are infected. Only one in four of infected people have symptoms of a slight discharge and stinging on passing urine. It is the commonest STD in the UK. This bacterial disease is easily cured with antibiotics but can have serious health consequences if left untreated. 

Syphilis. Syphilis is a bacterial infection that can be easily missed. The first symptom is a painless blister or sore that will disappear on its own, but the infection can be passed on to others for up to eighteen months. Syphilis can be treated with antibiotics. However, if left untreated, the disease can spread throughout your body over the course of many years and cause considerable organ damage. 

Trichomonas. Trichomonas vaginalis is a microscopic parasite that may or may not cause symptoms of watery discharge and stinging on passing water. Treatment is available. 

Human papillomavirus (HPV). This virus can infect the genital area, causing genital warts (condylomata). Some types of the virus have been associated with cervical cancer. Early detection with cervical smear testing can limit the risk of cancer. 

Genital herpes. This virus causes recurrent, periodic outbreaks of sores in the genital region and remains in your body for life. However, there are anti-viral therapies available that can shorten the duration of symptoms. 

Hepatitis B and Hepatitis C. These are viral infections that can be transmitted through sexual contact. Hepatitis B and C affect the liver and can severely damage it. Treatment with interferon is available, but this drug therapy may have serious side effects. 

Human Immunodeficiency Virus (HIV). HIV is associated with AIDS. This virus attacks and destroys certain white blood cells (T-helper lymphocytes) that are involved in the immune system. As the number of these cells is reduced, the ability of your body to fight off infections also decreases. This eventually results in death. Although there is no cure, early detection allows for treatment with anti-viral therapies that can help to prolong life.

Thrush. This STD is caused by a yeast, Candida albicans, that lives harmlessly on your skin, in your mouth and in your gut. Genital infection can cause itching and burning, a thick white cheesy discharge from the vagina or under the foreskin, pain during sex and discomfort on passing water. The infection can be treated with a cream or pessary and a single dose tablet that can be bought from the chemists.


You can refer yourself to any Sexual Health Clinic in the UK to receive free, confidential testing and treatment. Your GP is not informed without your permission. For any sexually transmitted disease, an infected person should inform their recent sexual partner(s) so that they may be treated as well. Clinic staff will advise you how best to do this, but it is not compulsory.



                                        
                                        
    
        
            
                

                

                
                    <a title=``

Tests:
Overview
Human Papillomavirus (HPV) is a sexually transmitted disease. There are more than 20 known sexually transmitted diseases (STDs). Some of them will cause symptoms that should be brought to the attention of a doctor immediately. However, some of these STDs can be ``silent`` — a person could have the disease but might not notice any symptoms of the infection. Therefore, it is important to be tested for STDs if you take part in unprotected oral, genital, or anal sex.

The most common STDs are listed below:

Gonorrhoea. This bacterial infection at first may cause a slight discharge from the vagina, penis, or anus. However, 50% of women and 10% of men with gonorrhoea have no symptoms at all. If the infection is not treated, it can lead to sterility and other complications. Gonorrhoea can be treated with antibiotics. 

Chlamydia. Chlamydia trachomatis is often called ``the silent epidemic`` because infections are common yet many people do not realize that they are infected. Only one in four of infected people have symptoms of a slight discharge and stinging on passing urine. It is the commonest STD in the UK. This bacterial disease is easily cured with antibiotics but can have serious health consequences if left untreated. 

Syphilis. Syphilis is a bacterial infection that can be easily missed. The first symptom is a painless blister or sore that will disappear on its own, but the infection can be passed on to others for up to eighteen months. Syphilis can be treated with antibiotics. However, if left untreated, the disease can spread throughout your body over the course of many years and cause considerable organ damage. 

Trichomonas. Trichomonas vaginalis is a microscopic parasite that may or may not cause symptoms of watery discharge and stinging on passing water. Treatment is available. 

Human papillomavirus (HPV). This virus can infect the genital area, causing genital warts (condylomata). Some types of the virus have been associated with cervical cancer. Early detection with cervical smear testing can limit the risk of cancer. 

Genital herpes. This virus causes recurrent, periodic outbreaks of sores in the genital region and remains in your body for life. However, there are anti-viral therapies available that can shorten the duration of symptoms. 

Hepatitis B and Hepatitis C. These are viral infections that can be transmitted through sexual contact. Hepatitis B and C affect the liver and can severely damage it. Treatment with interferon is available, but this drug therapy may have serious side effects. 

Human Immunodeficiency Virus (HIV). HIV is associated with AIDS. This virus attacks and destroys certain white blood cells (T-helper lymphocytes) that are involved in the immune system. As the number of these cells is reduced, the ability of your body to fight off infections also decreases. This eventually results in death. Although there is no cure, early detection allows for treatment with anti-viral therapies that can help to prolong life.

Thrush. This STD is caused by a yeast, Candida albicans, that lives harmlessly on your skin, in your mouth and in your gut. Genital infection can cause itching and burning, a thick white cheesy discharge from the vagina or under the foreskin, pain during sex and discomfort on passing water. The infection can be treated with a cream or pessary and a single dose tablet that can be bought from the chemists.


You can refer yourself to any Sexual Health Clinic in the UK to receive free, confidential testing and treatment. Your GP is not informed without your permission. For any sexually transmitted disease, an infected person should inform their recent sexual partner(s) so that they may be treated as well. Clinic staff will advise you how best to do this, but it is not compulsory.



                                        
                                        
    
        
            
                

                

                
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info:
What is it?
Huntington’s disease (HD) or chorea is a progressive, neurodegenerative genetic disorder characterised by chorea (involuntary movements), in-coordination, cognitive decline and behavioural/personality changes. In general, symptoms develop in adults between the ages of 30-50 years, although a small proportion (about 5%) show signs before the age of 20 years. This is referred to as Juvenile-onset Huntington’s disease. The symptoms of HD are as a result of loss of neurons (brain cells) in certain regions of the brain.

 Huntington’s disease is an autosomal dominant disorder. The mutation associated with HD is an expansion of the trinucleotide repeat sequence, CAG, in the huntingtin (HTT) gene which encodes the huntingtin protein. Although genes often have repeats as part of their sequence, when the number of repeats becomes too large, it can lead to disease. The result of this expansion mutation is defects or deficiencies in the huntingtin protein leading to disease. This type of mutation can also be seen in a number of other genetic diseases such as Fragile X syndrome.

Four classes of HD alleles have been described:



The normal allele containing some 26 CAG repeats*

Intermediate alleles (also known as “mutable normal” alleles) containing between 27-35 repeats*
 Individuals with these alleles are not affected with symptoms of HD but may be at risk of passing the disease to their children.

Reduced penetrance alleles containing between 36-39 repeats*
 Individuals with these alleles may or may not develop symptoms of HD. These alleles are described as having reduced or incomplete penetrance.

The HD allele containing greater than or equal to 40 CAG repeats*
All individuals with the HD allele will eventually develop symptoms of HD, i.e. having high or full penetrance. Individuals with very large repeats (greater than 65 CAG repeats) present with the juvenile form of HD.


* Note that these numbers may vary slightly between different laboratories and regions.

In general, there is a direct relationship between the number of repeats and the severity of disease, that is, the larger the repeat size, the more severe the symptoms and the earlier the onset of disease. In addition to this, mutated alleles are genetically unstable and have a tendency to undergo further expansion as they are transmitted to future generations, increasing the disease severity in subsequent generations. This phenomenon is known as anticipation.

 Huntington’s disease tends to have a higher frequency in populations of European descent and in Western Europe affects between 3-10 people in every 100,000. HD has survived evolution because of its relatively late onset, i.e. affected individuals are usually asymptomatic during their reproductive years, allowing the mutation to be silently passed onto subsequent generations. 

 For further explanation on patterns of inheritance see Genetic testing: the basics



                                        
                                        
    
        
            
                

                

                
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Sym:
Signs and symptoms
The signs and symptoms of HD are widespread and can vary from person to person. Generally, symptoms become more severe as the disease progresses. Some common symptoms include:

Physical symptoms:

Chorea (rapid, involuntary movements of the fingers, limbs and facial muscles). This varies in severity from mild twitching to more severe thrashing as the disease progresses

Reduced saccadic motion of the eyes (rapid movement of the eye used to focus from one object to another)

Loss of motor coordination and fine motor movements e.g. difficulty writing


Cognitive effects:

Reduced short-term memory

Concentration impairment

Difficulty with communication e.g. slow, slurred speech; difficulty in finding words; disorganised speech and sentence construction.


Behavioural/personality changes:

Change in personal hygiene and habits

Unusually anxious behaviour

Irritability and aggression

Depression, particularly in later stages


 A number of complications can arise in late-stage HD including:

Dysphagia (difficulty swallowing) resulting in weight loss and increased risk of choking

Increased risk of respiratory disease such as pneumonia

Incontinence and other urinary tract problems e.g. infections

Falls and difficulty walking requiring the use of assist devices e.g. wheelchairs


 



                                        
                                        
    
        
            
                
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Tests:
Tests
Non-laboratory evaluation

Non-laboratory evaluation includes a detailed family history and clinical assessments of the signs and symptoms of HD. The number and types of tests carried out will vary depending on the organisation and progression of disease. These tests are only useful in patients exhibiting symptoms of HD.

 Tests to assess motor, cognitive and behavioural patterns:
 A collection of simple, clinical tests performed by doctors or nurses to determine the presence/severity of motor, cognitive and behavioural symptoms. 

MRI or CT scans: 
Provides an image of the brain showing areas of degeneration. Imaging tests are not very useful in early stage HD because they are unable to show small regions of neural deterioration.

 Laboratory testing

Molecular genetics testing

Molecular genetics testing is used to determine if the patient has an allele, or gene variant, that predisposes to Huntington’s disease. It can be used to confirm a clinical diagnosis of HD and for predictive testing in asymptomatic patients. The most common approach used is direct mutation analysis which involves analysis of the patient’s DNA to estimate the length of the CAG repeat mutation. There are a number of different methodologies adopted of which the most widely used are based on PCR (polymerase chain reaction) and Southern blots.

Predictive testing

Routine screening of the general population is not recommended, especially due to the lack of effective intervention to stop the onset of disease. However, it should be considered in individuals at an increased risk of HD, that is, in those with a family history of HD. This is done using molecular genetic testing as described above. Predictive testing, in affected families, is also used to determine the carrier status in females of child-bearing age and pregnant women (antenatal testing) to assess the risk of transmission to fetuses. Similarly, testing can also be done to determine if a fetus is affected (prenatal testing).



                                        
                                        
    
        
            
                
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info:
What is it?
A hypercoagulable disorder is an inherited or acquired condition that increases the risk of inappropriate or excessive thrombus (blood clot) formation. Clotting is a normal response to blood vessel or tissue injury. When a blood vessel is injured, it begins to leak blood, either externally or into body tissues. The body stops this blood loss through a complex clotting process called haemostasis. During haemostasis, the injured blood vessel constricts to reduce blood flow, platelets adhere to the injury site and clump together to form a loose platelet plug and the coagulation cascade is initiated. During the cascade process, the body sequentially activates coagulation factors, proteins that create a net of fibrin threads, weave them through the platelet plug and stabilise the resulting blood clot. This clot functions as a barrier to further blood loss, one that stays in place until the injury has healed.

Usually, the body activates the clotting process, regulates its speed and volume with feedback mechanisms, and after the site has healed, breaks down the clot and removes it. Hypercoagulable disorders occur when something goes wrong with the clotting process. If the process activates inappropriately, does not self regulate properly, or resists being broken down, then there can be inappropriate and/or excessive blood clot formation. Blood clots are referred to as thrombi (one – thrombus) when they form in a blood vessel; thrombi may break off and block another blood vessel in another part of the body, where they are referred to as emboli (one – embolus). Thrombi most commonly form in the deep veins of the lower legs (deep venous thrombosis, or DVT), where they may cause pain and swelling. They may also form in arteries and cause heart attacks or strokes. Emboli may involve the brain, where they can cause strokes, or lungs (pulmonary emboli), where they can cause chest pain and shortness of breath.

Certain inherited gene mutations that may predispose someone to hypercoagulable states, such as factor V Leiden or the prothrombin G20210A mutation, are relatively common in the population, but it is thought that they add only a slight increase in the risk of actually developing a problem with clotting. Other inherited hypercoagulable disorders, such as protein C deficiency, protein S deficiency, and antithrombin deficiency, are relatively rare and are usually due to genetic mutations that lead to a deficiency or dysfunction in the coagulation protein that the gene produces. All of the inherited disorders (except for antithrombin deficiency) may be seen in heterozygous (one gene copy) or homozygous (two gene copies) form. If someone has two mutated gene copies, they tend to have a more severe form of the condition, and if they are heterozygous in more than one condition, the risk of clotting tends to be additive (and sometimes they multiply the risk). With inherited hypercoagulable disorders, the first thrombotic episode may be seen at a relatively young age (less than 40 years of age). The patient may have recurrent thrombosis, a family history of thrombosis, and blood clots in unusual sites (such as cerebral veins, hepatic veins, and renal veins).

Acquired disorders are more commonly known to be the cause of hypercoagulable states than inherited ones. They may be related to antiphospholipid antibodies,  liver disease, or to some cancers. Disseminated intravascular coagulation (DIC) is a life-threatening, acute, acquired condition that causes tiny clots throughout the body. It uses up coagulation factors at an accelerated rate, leading to both bleeding and inappropriate clotting. The

Sym:
Problems with coagulation activation
Anything that interrupts the smooth blood vessel walls, essential for constant blood flow, may increase the risk of activating the coagulation cascade. They are not considered true “hypercoagulable disorders” but may exacerbate those that do exist.

Blood vessel wall abnormalities (usually combined with a clotting abnormality)

Atherosclerosis -- the build-up of cholesterol, lipid and calcium deposits in the walls of arteries. They make the blood vessel walls less smooth, weaken them, and eventually form plaques that may rupture and lead to abnormal clotting and to strokes and heart attacks.

Vasculitis -- inflammation of blood vessel walls may increase the risk of platelet adhesion and coagulation factor activation. Healed vasculitis may provide sites within the vessels for accelerated atherosclerosis.




                                        
                                        
    
        
            
                
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Tests:
Problems with coagulation cascade regulation
Inherited:

Activated Protein C resistance (virtually always caused by the Factor V Leiden mutation -a mutation in the gene that makes the factor V protein). Factor V is activated normally, but it is resistant to degradation by activated Protein C, which regulates the clotting process.

Antithrombin (formerly called antithrombin III) deficiency or dysfunction - this is a factor that helps decrease the activity of the clotting process by inhibiting factors Xa, IXa, XIa, and thrombin. Inherited or acquired deficiency of antithrombin can lead to a clot formation.

Protein C deficiency or dysfunction - Protein C helps regulate the speed of the coagulation cascade by degrading activated factors V and VIII.

Protein S deficiency or dysfunction - Protein S is a cofactor with Protein C

Prothrombin G20210A mutation - a mutation that results in an increased amount of thrombin (activated factor II) in the circulation, which is associated with an increased risk for blood clots.

Elevated factor VIII levels - persistently elevated factor VIII levels that are not associated with inflammation or other acquired conditions but are associated with an increased thrombotic risk.


Acquired:

Antiphospholipid syndrome (lupus anticoagulant and anticardiolipin antibody)

Disseminated intravascular coagulation (DIC)

Bone marrow disorders such as myeloproliferative disorders

In very rare cases, antibodies to coagulation factors; most factor antibodies cause bleeding episodes, not clotting problems.

Systemic lupus erythematosus - an autoimmune disorder




                                        
                                        
    
        
            
                
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What is it?
The thyroid is a small, butterfly-shaped gland just below the Adam`s apple. It has two lobes that sit either side of the windpipe. It plays a very important role in controlling your body`s metabolism, that is, how your body uses the energy contained within its cells and the rate at which it uses it. This is also called your metabolic rate. To do this the thyroid gland produces hormones.  Hormones are chemicals that act as your body’s messengers and travel through your blood sending a signal to different parts of your body.  The hormones that the thyroid produces act on the cells in other parts of the body to increase the rate at which they use energy. The thyroid gland produces 3 main hormones: Thyroxine (T4), triiodothyronine (T3) and calcitonin. The first two hormones affect your metabolism by increasing the metabolic rate (making you use more energy). T3 can be made in the thyroid from the breakdown of T4 and also by the same mechanism in other tissues in the body.   The last hormone calcitonin is responsible for controlling the levels of calcium and phosphorus in the blood which we need to keep our bones strong and healthy. It does not affect our metabolic rate.


Metabolism is important as the body needs fuel (energy) to keep all its parts working on a daily basis, for example to keep our heart beating and allow our lungs to move so that we can breathe.  The rate at which we use this energy controls how quickly the cells and the tissues in our body work.  If our body parts work too quickly or too slowly we may start to feel unwell. Because of this the production of the hormones from the thyroid gland need to be controlled. The brain controls the production of these hormones from thyroid gland via two areas called the hypothalamus and the pituitary gland.

The hypothalamus first produces a chemical called thyrotropin-releasing hormone (TRH).  This travels to the pituitary gland which sits at the base of the hypothalamus and tells it to produce a chemical called thyroid-stimulating hormone (TSH).  TSH is then released by the pituitary gland into the blood stream and travels to the thyroid gland to tell it to produce more thyroid hormones (T4 & T3). When you have enough thyroid hormone in your blood, the pituitary gland and the hypothalamus tell the thyroid to stop making the hormone by reducing the production of TRH and TSH. When the body needs more thyroid hormones the hypothalamus and pituitary secrete TRH and TSH again so that the thyroid gland is told to make more thyroid hormones. In this way the levels of T4 and T3 in your body are tightly regulated and your metabolic rate is controlled at the correct level in order for your body to function properly.

Another way the thyroid gland makes sure that we have the correct level of thyroid hormone is to store some of it inside the gland. Inside the thyroid, most of the T4 is stored attached to a protein called thyroglobulin. When more thyroid hormones are needed the thyroid not only makes more T4 but  releases some of what is stored into the bloodstream. Once in the bloodstream, most of the T4 is attached to a protein called thyroxine-binding globulin (TBG). The tissues cannot absorb the T4 as well when it is attached to this protein. However when the T4 is needed by the tissues it is released from the protein so that the body can use it easily. T4 can also be converted to the more active T3 by the liver and many other tissues when needed.   Most UK laboratories now measure T4 and T3 hormones in their active ‘free’ state which means that they are not bound to proteins. These tests are usually referred to as Free T4 (FT4) and Free T3 (FT3).



                                        
                                        
    
        
            
                

                

                
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What are the common thyroid diseases?
Hyperthyroidism - Hyperthyroidism means you have too much thyroid hormone. This makes your body use energy faster than it should and therefore some cells and tissues in your body work faster than they should do. Symptoms of hyperthyroidism are:

Palpitations (fast or abnormal heart rate)

Feeling anxious, nervous, irritable or emotional 

Anxiety & depression

Difficulty sleeping

Diarrhoea

Feeling hot

Weakness & fatigue

Weight loss despite feeling hungry

Tremor

Hair loss

Light or absent periods

A swelling of your thyroid gland ( goitre)

Eye problems such as blurred vision and eyes that appear enlarged if you have a type of hyperthyroidism called Graves disease

It is important to realise that most people will not have all the symptoms and in some people the symptoms may be very mild at first.

Graves disease

Hyperthyroidism (the overproduction of thyroid hormone) can be caused by different things, most of which cause the thyroid gland to produce too much thyroxine. Graves’ disease is the most common cause of hyperthyroidism.  In Graves’ disease the body produces antibodies which damage the thyroid and cause the release of thyroid hormones.  Antibodies are like our body`s soldiers and are produced to fight infections and any other harmful invaders that could damage the body. Sometimes, for reasons that aren`t clear, the body produces antibodies that attack our own tissues.  The production of antibodies against our own tissues  is known as an autoimmune disease. In Graves’ disease, these antibodies may also attack the eyes causing inflammation of the eye muscles. This can lead to problems with vision and also an enlargement of the eyes as the muscle behind the eyes becomes swollen. The thyroid gland, which is also under attack by the antibodies, may also become enlarged and swollen.  An enlarged thyroid gland is called a goitre.

Other causes of hyperthyroidism

Other causes of hyperthyroidism include inflammation of the thyroid gland which is known as thyroiditis. It generally occurs after a viral illness (which is known as subacute thyroiditis) or a pregnancy (postpartum thyroiditis).  It may also be caused by autoimmune diseases other than Graves disease, as well as by some medications e.g. amiodorone or lithium.

Less commonly hyperthyroidism is caused by a growth of part of the thyroid gland called a nodule. A nodule is simply a lump of tissue.  One nodule may develop (e.g. toxic solitary adenoma) or occasionally multiple nodules may form (e.g. multinodular goitre).These nodules contain abnormal thyroid tissue so that the thyroid gland ends up producing more thyroid hormone than normal. They are usually non cancerous.

Treatment for hyperthyroidism

Treatment for hyperthyroidism often depends on the cause. However, options include having a single dose of radioactive iodine by mouth or by injection which gets taken up by the thyroid and kills some of the over productive cells. Other options include taking anti-thyroid tablets regularly (e.g. carbimazole) which suppresses the production of the thyroid hormone. These are usually taken for 1-2 years after which case the cause of the hyperthyroidism has normally resolved so the treatment can often be stopped. However a certain percentage of people may need to take carbimazole for the long term in order to keep their symptoms under control.  Surgery to remove part of the thyroid is also an option and is often used in people with goitres as these can often cause pressure on other areas such as the windpipe.

Occasionally some of these treatments may inadvertently stop too much of the thyroid gland from producing the thyroid hormones. This may then result in hypothyroidism and it may then be necessary to take thyroxine tablets to increase the thyroid hormone levels back to normal.

Hypothyroidism - Hypothyroidism means you have too little thyroid hormone. This makes your body use energy more slowly than it should and some parts of your body may work slower than normal. Hypothyroidism is common; in fact, you can have hypothyroidism for a number of years before it is recognized and treated.  It is more common in women than men and it becomes more common as you get older. Symptoms of hypothyroidism include:

Weight gain or fluid retention

Depression

Constipation

Feeling cold

Dry skin

Thinning hair and brittle nails

Tiredness

Memory problems and poor concentration

A slow heart rate

Heavy /abnormal periods or infertility (not as common)

Goitre (depending on the cause of the hypothyroidism)

Once again sometimes only a few of these symptoms may be apparent in cases of hypothyroidism and the symptoms can often be mild.

Causes of Hypothyroidism

Hypothyroidism also has many different causes. Worldwide the most common cause is iodine deficiency as iodine is needed to make the thyroid hormones. However in the UK this is rare as our diet usually contains iodine.

The commonest cause for hypothyroidism in the UK is an autoimmune disease called autoimmune thyroiditis. In this disease the thyroid gland is attacked by antibodies and can no longer make enough thyroxine. Hashimoto’s disease is the commonest form of autoimmune thyroiditis. In this form the thyroid gland also swells up and it is therefore associated with a goitre (swelling of the thyroid gland). Other rarer diseases may also cause an autoimmune thyroiditis causing hypothyroidism.

Medication (such as amiodarone or lithium) may also cause hypothyroidism by a variety of mechanisms. Hypothyroidism may also occur secondary to treatment for an overactive thyroid (especially after surgery or radioactive treatment). In these cases too much of the thyroid tissue may have been damaged or removed and therefore the gland will not produce enough hormone. In addition some children may be born with hypothyroidism if their thyroid gland has not developed properly. This is called congenital hypothyroidism. All babies are tested for this disease when they are born. Very rarely a problem with the pituitary gland in the brain may cause hypothyroidism. This is due to a lack of production from the pituitary of TSH so that the thyroid gets no signal to produce thyroid hormones when they are low. This is called ‘secondary hypothyroidism’.

Treatment for hypothyroidism is usually straightforward and involves taking tablets of thyroid hormone regularly. Treatment is usually life long as the condition is normally permanent.

Other Thyroid Diseases

Thyroid Cancer—There are  5 main types of thyroid cancer: papillary, follicular, medullary, anaplastic and thyroid lymphoma.  Papillary and follicular cancers are slow growing and are usually straightforward to treat.  Medullary cancer usually has a good outcome if it has not spread beyond the thyroid gland. Anaplastic thyroid cancer is the least common but it is the most aggressive form and spreads quickly. It can be difficult to treat. Lymphomas of the thyroid are not very common but are usually highly curable. Thyroid cancer may require different treatments such as surgery, chemotherapy, and radiotherapy depending on the type and how far the cancer has spread.

Solitary Thyroid Nodule—A solitary thyroid nodule is a small lump on the thyroid gland. By age 50 as many as 50% of the population will have a nodule somewhere in the thyroid. The overwhelming majority of these nodules are harmless. Some patients will have normal thyroid hormone levels. However some patients can have high or low thyroid hormone levels because of the nodules. Occasionally, thyroid nodules can be cancerous and need to be treated.

Goitres—A thyroid goitre is a visible enlargement of the thyroid gland. This rarely happens in developed countries, but is common in some areas in developing countries where there is little iodine in the diet. Iodine is needed to produce thyroid hormones so if it is in short supply the thyroid tries to compensates and grows in size. Other causes of a goitre involve an inflammation of the thyroid gland as occurs in Graves disease and Hashimoto`s disease.  Therefore goitres may be associated with producing too much or too little thyroid hormone. Sometimes however a patient with a goitre will have normal levels of thyroid hormones.  Goitres can be surgically removed if they compress other structures of the neck such as the windpipe (trachea) and food pipe (oesophagus). This compression makes it difficult to breathe and swallow.

Thyroiditis—Thyroiditis means that the thyroid gland is inflamed. This is usually due to autoimmune disease where the body produces antibodies that attack the thyroid gland. It may be also be due to a bacteria or a virus which act in the same was as antibodies in auto-immune disease to attack the thyroid gland. It can also occur after a pregnancy.  Thyroiditis can cause hypothyroidism or hyperthyroidism and the symptoms can therefore vary. It can also cause fever and pain in the thyroid gland depending on the cause.



                                        
                                        
    
        
            
                
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Tests:
What tests are used to detect a problem with the thyroid?
The first test your doctor will usually request to detect a problem with your thyroid gland is a TSH blood test. The TSH is usually low in hyperthyroidism and raised in hypothyroidism however this may not always be the case as other illnesses can also cause your TSH to be abnormal. Therefore  if your TSH result is abnormal, the doctor will usually request a free T4 test (FT4)  to confirm the diagnosis of thyroid disease.

In some laboratories the free T4 is processed at the same time as the TSH so the results may arrive together. If your thyroid is overactive the FT4 will usually be raised and the TSH low. If it is underactive the FT4 will usually be low and the TSH will be raised.

A free T3 test (FT3) may be requested as well but it is not as commonly tested as  FT4. This is because a TSH and a FT4 result are usually sufficient enough to make a  diagnosis. However in some cases of hyperthyroidism for example, FT3 may be increased but FT4 may be normal. This is not very common. However FT3 may be requested when investigating patients with symptoms of hyperthyroidism with a normal FT4 level.

TSH – to test for hypothyroidism, and hyperthyroidism, to screen for secondary hypothyroidism (caused by the pituitary not secreting enough TSH), to screen newborns for hypothyroidism, and to monitor treatment with thyroid hormone tablets.

Free T4 – to test for hypothyroidism and hyperthyroidism.

Free T3 – to test for hyperthyroidism.

Additional tests that may be performed include:

Thyroid antibodies - This tests for antibodies that are produced against the thyroid gland. Most commonly it tests for antibodies that attack a protein of the thyroid called thyroid peroxidase.  This test is used in people with thyroid disease to help differentiate different types of thyroiditis and identify autoimmune thyroid conditions that may be causing the disease. It is also used to test for thyroid disease in people with an abnormal TSH but a normal thyroid hormone level. If these people have a positive thyroid antibody result it means that although they are producing the correct amount of thyroid hormone currently their thyroid gland is under attack by the antibodies. This may mean that their thyroid hormone levels may become abnormal in the future once the thyroid gland is no longer able to cope. These patients often need to have their thyroid hormone levels monitored regularly. This is often called subclinical hypothyroidism or subclinical hyperthyroidism.

Calcitonin - to help detect overproduction of calcitonin

When are these lab tests requested?

Since one out of every 4,000 infants is born without a working thyroid gland, there is a UK screening programme for all newborn babies looking for hypothyroidism.  This occurs approximately 1 week after birth and uses a drop of blood taken from a heel prick which is sent to the laboratory for a TSH test.

Thyroid function tests are also requested when a doctor notices that a patient has symptoms which can occur in thyroid disease. In hypothyroidism for instance a patient might show signs of fatigue, weight gain, increased sensitivity to cold, or skin dryness. In hyperthyroidism the signs might include fatigue, weight loss, increased sensitivity to heat, and nervousness. Tests are also requested in individuals who have a family history of thyroid disorders although they are not usually done unless someone has symptoms of thyroid disease or is unwell.

Non-Laboratory Tests

Ultrasound – an imaging scan that allows doctors to look at a thyroid gland and determine whether a nodule is solid or fluid-filled. This can help determine what the cause of the nodule may be. Ultrasound  can also help measure the size of the thyroid gland and tell whether it is enlarged or not.

Thyroid Scans and uptake tests –  a test that uses radioactive iodine or technetium to look for thyroid gland abnormalities and to evaluate thyroid function in different areas of the thyroid. The thyroid gland absorbs the radioactive substance from the blood stream and certain parts of the thyroid may take up more or less of the dye depending on how well they are working. A picture of the gland is taken and you can see what areas have taken up more or less of the dye compared to others and can therefore see any areas of the thyroid which may be abnormal.  It is very useful in investigating the nature of nodules and the possible causes of enlarged thyroid glands. Thyroid uptake tests are very similar to this however the scan may be repeated at different times over a 24-hour period.

Biopsies – often a fine-needle biopsy, a procedure that involves inserting a needle into the thyroid and removing a small amount of tissue and/or fluid from a nodule or other area that the doctor wants to examine; an ultrasound is used to guide the needle into the correct position



                                        
                                        
    
        
            
                
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