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Wilson's disease Alternative Names hepatolenticular degeneration Definition Wilson's disease is an inherited inborn error of metabolism in which the body cannot process copper. What is going on in the body? Wilson's disease is caused by a defect in an enzyme, or special protein. This enzyme normally helps the body get rid of extra copper. The amount of copper in a normal diet is more than the body needs. In people with Wilson's disease, the extra copper cannot be excreted from the body. The copper can damage the liver, brain, kidney, cornea, and other organs. What are the signs and symptoms of the disease? Wilson's disease may cause: anemia, or low red blood cell counts ataxia, or lack of coordination jaundice, or yellow eyes and skin kidney problems, which are usually minor loss of appetite psychiatric problems, such as anxiety,depression, personality changes, and psychosis slurred speech or inability to form words tremors, or involuntary rhythmic movements weakness and a general discomfort What are the causes and risks of the disease? Wilson's disease is an inherited disorder. The children of parents who carry the gene for the disorder are at risk. The liver disease usually starts between ages 8 and 12, while the brain symptoms occur later in life. What can be done to prevent the disease? Nothing can be done to prevent Wilson's disease in someone who has already been born. Genetic testing can determine whether someone has the gene for Wilson's disease. Genetic counseling is useful for people with a family history of the disease. How is the disease diagnosed? Diagnosis of Wilson's disease begins with a medical history and physical exam. Usually there are high levels of copper in the urine. Often the level of a special protein in the blood is lower than normal. A liver biopsy involves taking a small piece of liver with a special needle put through the skin. The piece can then be examined under a microscope for excess copper. What are the long-term effects of the disease? If untreated, Wilson's disease causes death. A delay in treatment can cause permanent brain damage, hepatitis, or cirrhosis. If treatment is started early and continued for life, there may be no long-term effects. What are the risks to others? Wilson's disease is not contagious. It is an autosomal recessive disorder. That means the disease occurs in people who get the defective gene from both parents. Parents who have had a child with Wilson's disease are at risk for having other affected children. What are the treatments for the disease? Treatment is started right after the diagnosis is made, even if there are no symptoms. It continues for the rest of the person's life. If treatment is stopped, the symptoms return. Treatment includes avoiding foods rich in copper. Examples of such foods are dried beans, peas, whole wheat, chocolate, and organ meats. Medicines are also needed. Penicillamine is usually used to treat Wilson's disease. It binds copper and allows it to be excreted in the urine. Pyridoxine, a component of vitamin B6, is also given. Other medicines such as trientine dihydrochloride and zinc may be used in some cases. In rare cases, Wilson's disease may cause rapid, severe liver damage. The only option in such cases is a liver transplant. What are the side effects of the treatments? All medicines have side effects, such as allergic reactions or stomach upset. Penicillamine may cause a rash, low blood cell counts, or joint pains. What happens after treatment for the disease? Someone with Wilson's disease will need lifelong treatment. How is the disease monitored? Copper levels in the body are measured to check the effectiveness of treatment. Routine blood and urine tests are also done. Any new or worsening symptoms should be reported to the healthcare provider.

Author: Ronald J. Jorgenson, DDS, PhD, FACMG Date Written: 04/21/00 Reviewer: Adam Brochert, MD Date Reviewed: 08/21/01 Potential conflict of interest information for reviewers available on request