Wilson's disease is a genetic disorder in which copper builds up in the body, mainly in the liver and brain. Without any treatment, the build-up of copper can cause serious symptoms. Treatment is with medication to remove the excess copper and/or to prevent a further build-up of copper.
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 Samuel 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 (the layer at the front of your eye) 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 sometimes also called hepatolenticular degeneration.
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. If this process does not work then 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.
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.
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. However, 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:
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.
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 causes 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 very rare cause of cirrhosis.)
As copper deposits in the brain it can cause various symptoms:
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).
If Wilson's disease is suspected, it can be diagnosed by various tests:
If Wilson's disease is confirmed then your 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.
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.
Note: you need treatment for life. Firstly, 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 treatment with medication, 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 usually very good.
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: liver, chocolate, nuts, mushrooms, legumes and shellfish, especially lobster.