Wilson’s disease

 

Wilson’s disease is a rare hereditary genetic disease. It is characterised by the toxic accumulation of copper in various organs, mainly in the liver and in the brain. The estimated prevalence of the disease (number of cases at a specific point in time) is between 1 in 30,000 individuals and 1 in 100,000, depending on the countries. Girls and boys are affected equally by this disorder.

The first clinical manifestations do not appear before the age of 3 years, most frequently during adolescence (10-20 years of age). It takes indeed several years after birth before the accumulation of copper becomes toxic to the organism. Liver damage may present itself as jaundice (icterus), increase in liver volume (hepatomegaly), and even, in the most advanced cases, as accumulation of fluid in the abdomen, called “ascites”. Brain damage often manifests later from adolescence on. It may result in various symptoms depending on the zone that is damaged. Initial symptoms include learning problems, trembling, difficulty in swallowing, and difficulty in writing or speaking. Some persons affected may also have psychiatric problems. The diagnosis is difficult. Several complementary examinations are necessary: blood analyses, urinalyses, liver biopsy. A genetic mutation analysis is carried out on the patient in order to confirm the diagnosis and on the other family members in order to identify the carriers of the disease.

A drug treatment is available that must be taken for life. This treatment aims at lowering the level of cooper in the organism. A diet low in copper-containing food is also recommended in addition to drug treatment. The prognosis of Wilson’s disease depends on how early the diagnosis is made and how quickly a therapy is initiated. When the disease is diagnosed rather late (for example during adolescence), liver damage has advanced to a point where a liver transplant often is the only treatment option.

Dr. Aude Tonson-LaTour
2011