Wilson disease causes a buildup of copper in the body. It is very rare.
Copper is a mineral we get from food. Our bodies need it in small amounts. Too much copper can be poisonous. We eat much more copper than we need. The copper needs to be passed out of our bodies. People with Wilson disease cannot pass the copper they do not need. The copper builds up in the body and damages organs like the liver, brain, kidneys, and eyes.
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Wilson disease is a genetic disorder. A faulty gene causes this system to malfunction. Both parents must have the faulty gene in order for the child to develop the disease. People with only one faulty gene may never have symptoms. However, they can pass the gene on to their children.
The only known factor that increases your risk for Wilson disease is a family history of the disease. It tends to be most common in eastern Europeans, Sicilians, and southern Italians.
It may take some time for copper to build up. At first, the liver will hold the excess copper. Eventually, the liver will not be able to hold the copper. Copper will begin to leave the liver and move to other organs like the brain or eyes. Symptoms usually begin under 40 years of age, typically at ages 6-20 years. They can be present as early as 5 years of age.
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.
You will be asked about your symptoms and medical history. A physical and mental exam will be done. Your eyes will be examined for brown, ring-shaped color in the cornea (Kayser-Fleischer rings).
Your bodily fluids and tissues may be tested for copper or evidence of elevated copper. This can be done with:
Images may be taken of your brain. This can be done with an MRI scan.
You may consider genetic testing if there is a family history of Wilson disease. If the condition is identified before symptoms develop, it may prevent serious complications.
It may confirm the diagnosis if other tests do not.
It may also be recommended in people who don't have a history of high alcohol intake but have a fatty liver.
The goals of treatment are to:
Treatment cannot cure the underlying problem of copper build up. You will need to continue treatment throughout your lifetime.
Medications may help by:
The binding (chelating) agents are given at first to reduce the amount of copper in the body and prevent additional damage.
After the amount of copper is reduced, the blocking agents are given to keep copper at normal levels. Occasionally lower doses of binding agents may be needed as well.
Certain changes in your diet may help reduce your copper intake:
A liver transplant may be needed if you have severe liver damage. Transplantation may also be needed if you cannot tolerate the side effects of medications.
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 February 12, 2018.
Brewer GJ, Askari F, et al. Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease. Arch Neurol. 2006;63(4):521-527.
Ferenci P. Wilson disease. Clin Gastroenterol Hepatol. 2005;3(8):726-733.
Wilson disease. EBSCO DynaMed Plus website. Available at:http://www.dynamed.com/topics/dmp~AN~T115285/Wilson-disease. Updated December 29, 2016. Accessed February 12, 2018.
Wilson disease. National Digestive Disease Information Clearinghouse website. Available at: http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/wilson-disease/Pages/facts.aspx. Updated July 2014. Accessed February 12, 2018.
Last reviewed March 2018 by EBSCO Medical Review Board David A. Ostrovsky, MD Last Updated: 2/27/2014