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WILSON'S DISEASE
Wilson's disease is a condition where too much copper builds up in the body. It is a rare
inherited disorder that affects about 1 in 30,000 people. It is named after Dr Samual Wilson
who first described the disorder in 1912.
If you inherit the genetic fault in Wilson's disease, your body is not able to get rid of copper.
Copper is a 'trace metal' which is in many foods. You need tiny amounts of copper to remain
healthy. Normally, the body gets rid of any excess copper. People with Wilson's disease
cannot get rid of excess copper and so it builds up in the body, mainly in the liver, the
brain, the cornea and kidneys.
 
Too much copper in the liver cells (the hepatocytes) is harmful and leads to liver damage.
Damage to brain tissue mainly occurs in an area called the lenticular nucleus. Hence, Wilson's
disease is also called 'Hepatolenticular Degeneration'. If left untreated, the damage becomes
severe and eventually fatal.
 
What causes Wilson's disease
In Wilson's disease, a particular gene on chromosome 13 does not work. The gene is called ATP7B. This
gene normally controls the way the liver cells get rid of excess copper. Normally, the liver cells pass out
excess copper into the bile. But, if this process does not work, the copper builds up in liver cells. When
the copper storage capacity of the liver cells is exhausted, the copper 'spills' into the bloodstream and
deposits in other parts of the body, mainly the brain.
   
How is Wilson's disease inherited?
Wilson's disease is an autosomal recessive disorder. This means that in order to develop Wilson's disease
you need to inherit two abnormal ATP7B genes, one from your mother and one from your father.

Wilson's inheritance (186.gif)
If you inherit only one abnormal gene, you are called a carrier. Carriers do not have the disorder as they
have one normal gene which is enough to control the function of copper in the body. But carriers can pass
the abnormal gene on to their children. About 1 in 100 people are carriers of the ATP7B gene. When two
people who carry the abnormal gene have a child, there is a:

 
1 in 4 chance that the child will have Wilson's disease by inheriting the abnormal ATP7B gene from
both parents)

 
2 in 4 chance that the child will not have Wilson's disease, but will be a carrier by inheriting the
abnormal ATP7B gene from one parent but the normal gene from the other parent.

 
1 in 4 chance that the child will not have Wilson's disease, and will not be a carrier by inheriting the
normal gene from both parents.
What are the symptoms and problems of Wilson's disease?
Although the genetic defect is present at birth, it takes years for copper to build up to the
level where it is damaging. Symptoms typically start to develop between the ages of 6 and
20, most commonly in the teenage years. However, you can first develop symptoms in middle
age.
Liver problems
Symptoms of liver problems often develop first. The toxic effect on the liver cells can cause
hepatitis (inflammation of the liver) which may cause jaundice, abdominal pain and vomiting.
If left untreated, damage to liver cells caused scarring of the liver (cirrhosis). Eventually
severe cirrhosis and liver failure develop in untreated cases causing severe problems.
(Note: there are various causes of cirrhosis. Wilson's disease is a rare cause of cirrhosis.)
Brain problems
As copper deposits in the brain it can cause various symptoms:

 
Physical symptoms such as an odd type of tremor in the arms, slowness of movement,
difficulty with speech, writing problems, difficulty swallowing, an unsteady walk,
headaches, seizures.
Psychological symptoms such as depression, mood swings, inability to concentrate.
  Affected people may become very argumentative and emotional and may seem to have
  a 'change in personality'.
 
Left untreated, the accumulation of copper in the brain can lead to severe problems such as
severe muscular weakness, severe rigidity, and dementia.
 
 

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Wilson's Disease - Kayser Fleischer rings
 
Other problems
Copper may build up in the cornea of the eye. This causes a characteristic feature called Kayser-Fleischer rings - a brownish
pigmentation of the cornea. Other features that may develop include anaemia, kidney damage, heart problems, pancreatitis
(inflamed pancreas), menstrual problems and repeated miscarriage in women, and premature osteoporosis ('thinning of the bones').
How is Wilson's disease diagnosed?
If Wilson's disease is suspected, it can be diagnosed by tests.
A blood test to measure ceruloplasmin. This is a protein that binds copper in the bloodstream. The level is low in nearly all people with Wilson's
  disease.
A urine test to measure the amount of copper in the urine. The amount is typically higher than normal.
An examination of the cornea by an optometrist or eye specialist may show the Kayser-Fleischer rings if they have developed (not present in
  all cases).
A biopsy (small sample) of the liver may be taken to look at under the microscope. This can show the excess copper in the liver and the extent
  of any cirrhosis. See separate leaflet called 'Liver Biopsy'. 
 

 

  
If Wilson's disease is confirmed then brothers and sisters should be checked to see if they have the condition. Brothers and sisters of a person with
Wilson's disease have a 1 in 4 chance of also having the condition.
 
How is Wilson's disease treated?
It is essential to treat Wilson's disease. The earlier treatment is started, the better the chance of preventing long-term permanent damage to the liver
or brain.
Penicillamine is a drug used to remove copper from the body (it is called a chelating agent). The penicillamine causes the excess copper from
  the body to be passed out in the urine. The dose may be reduced to a 'maintenance dose' after about a year when the initial build-up of copper
  has been cleared.
Trientine is an alternative to penicillamine. It too is a chelating agent and removes copper from the body.
   
Zinc is an option in certain circumstances. Zinc works by blocking the gut from absorbing copper from food. Therefore it does not clear excess
  copper from the body, but prevents any further build up of copper. Zinc is much less likely to cause side-effects than penicillamine or trientine.
  It may be an option for people who are diagnosed at the very early stages of the disease and have no symptoms. Also, a switch to zinc may be
  an option for people who have been initially treated with penicillamine or trientine once the initial build up of copper has been cleared from the
  body.
Note: you need treatment for life. First, to clear the excess copper, and then to prevent future accumulation of copper. Failure to take medication
can lead to a return to a build-up of copper which can be serious, even fatal.
   
  For the few people who do not respond to drug treatment, or are diagnosed in the late stage of the disease with severe cirrhosis or liver failure, a liver
  transplant may be an option and can be life-saving. The long-term outlook after a liver transplant is good.
  Diet
  Foods with a high concentration of copper generally should be avoided, at least in the first year of treatment when the excess copper
  is being cleared from the body. These include: shellfish, nuts, chocolate, mushrooms and organ meats.
   
  What is the outlook prognosis?
If treatment is begun in the early stages of the disease, it usually works well. You can expect a normal length and quality of life.
Without treatment, Wilson's disease is usually fatal, usually before the age of 40.
If symptoms have developed before treatment is started, some of the symptoms improve with treatment, but some may remain
  permanently. For example, some of the brain symptoms are permanent once they develop. Your specialist will be able advise about 
  which symptoms may go and which may be permanent once treatment is started.
 

 
 

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