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Wilson disease is a rare buildup of copper in the body. Copper is a mineral we get from food. Our bodies need it in small amounts. People with Wilson disease cannot pass excess copper out of the body.
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Wilson disease is caused by a faulty gene. Both parents must have the faulty gene for the child to get the disease.
A family history of the disease raises a person risk of getting it. It is more common in people in Italy, Germany, Austria, Japan, and Costa Rica.
It may take some time for copper to build up. At first, the liver will hold the excess copper. Then it will leave the liver and move to other organs like the brain or eyes.
Wilson disease is rare. It is fatal unless it is treated before serious illness develops. Symptoms may be attributed to other more common causes like hepatitis or cirrhosis. You may also appear healthy even while your liver is getting damaged. However, it is important to get diagnosed and treated early. This will help to avoid organ damage and early death.
The doctor will ask about your symptoms and health history. A physical exam will be done. A test will be done to look for key signs in the eyes. This can confirm the diagnosis.
Blood tests may also be done to look for signs of the disease. This can also confirm the diagnosis.
There is no cure. It needs to be treated throughout a person's life. The goals are to:
These changes may need to be made to lower copper levels:
Medicine may be given to:
People with severe liver damage may need a transplant. It may also be needed in those who are not helped by other methods.
There are no current guidelines to prevent Wilson disease.
American Association for the Study of Liver Diseases
Wilson Disease Association
About Wilson disease. Wilson Disease Association website. Available at: http://www.wilsonsdisease.org/about-wilson-disease. Accessed May 4, 2020.
Weiss KH. Wilson Disease. GeneReviews 2016 Jul 29.
Wilson disease. EBSCO DynaMed website. Available at:https://www.dynamed.com/condition/wilson-disease. Updated December 9, 2019. Accessed May 4, 2020.
Wilson disease. National Digestive Disease Information Clearinghouse website. Available at: https://www.niddk.nih.gov/health-information/liver-disease/wilson-disease. Accessed May 4, 2020.
Last reviewed February 2020 by EBSCO Medical Review Board Daniel A. Ostrovsky, MD Last Updated: 05/04/2020