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Alternative namesHepatolenticular degeneration
DefinitionWilson's disease is an inherited disorder where there is excessive amounts of copper in the body. This causes a variety of effects, including liver disease and damage to the nervous system.
Causes, incidence, and risk factors
Wilson's disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance that each of their children will develop the disorder (i.e., it is an autosomal recessive disease).
Wilson's disease causes the body to absorb and retain excessive amounts of copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, death of the tissues, and scarring, which causes the affected organs to stop functioning properly. Liver failure and damage to the central nervous system (brain, spinal cord) are the most predominant, and the most dangerous, effects of the disorder.
It is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. The disorder most commonly appears in people under 40 years old. In children, the symptoms begin to be expressed by around 4 years old.
Signs and tests
An eye examination may show:
A physical examination may show signs of:
Lab findings may include:
If there are liver problems, lab abnormalities include:
Other tests findings may include:
Genetic testing for an abnormality (mutation) in the Wilson disease gene (ATP7B) is available.
TreatmentThe goals of treatment are to reduce the amount of copper in the tissues and to manage the symptoms of the disorder. Treatment must be lifelong.
Pyridoxine ( vitamin B6 ) is used to counteract nervous tissue damage. Potassium or sodium supplements may be given before meals to reduce the amount of copper that is absorbed from foods.
Penicillamine is a medication that helps move copper out of the tissues and causes it to be excreted from the body in the urine. Corticosteroids such as prednisone may be used if the person cannot tolerate penicillamine.
A low-copper diet may be recommended, including avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. Distilled water may be suggested because most tap water flows through copper pipes. Avoid using copper cooking utensils.
Symptoms are treated as appropriate, including exercises or physical therapy, and protective measures for people who are confused or unable to care for themselves.
Wilson disease support groups can be found at
Expectations (prognosis)Lifelong treatment is required to control the disorder. The disorder may cause fatal effects, especially loss of liver function and toxic effects of copper on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling.
Calling your health care providerCall your health care provider if symptoms indicate Wilson's disease may be present. Call a genetic counselor if Wilson's disease is present in your family.
PreventionGenetic counseling is recommended for persons with a family history of Wilson's disease.
Update Date: 6/3/2003A.D.A.M. editorial. Previous review by David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network (8/31/2001).
Last updated: Tue, 06 Jan 2009 00:20:03 GMT