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Wilson Disease



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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Causes    TOP

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.


Risk Factors    TOP

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.


Symptoms    TOP

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.

  • Symptoms of excess copper in the liver include:
    • Yellowing of the skin and eyes
    • Swollen abdomen
    • Pain in the abdomen
    • Nausea
    • Vomiting blood
    • Fluid buildup in the legs
    • Fatigue
  • Symptoms of excess copper in the brain include:
    • Depression
    • Anxiety
    • Mood swings
    • Aggressive or other inappropriate behaviors
    • Difficulty speaking and swallowing
    • Tremors
    • Rigid muscles
    • Problems with balance and walking
  • Symptoms of excess copper in the eyes include Kayser-Fleischer rings, which are rusty or brown-colored rings around the iris.
  • Symptoms may also occur due to anemia, infections, poor blood clotting, kidney damage, or bone and joint disease from the extra copper

Diagnosis    TOP

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:

  • Blood and urine tests
  • Liver biopsy

Images may be taken of your brain. This can be done with an MRI scan.

Genetic Testing

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.


Treatment    TOP

The goals of treatment are to:

  • Remove the excess copper
  • Prevent copper from building up again
  • Improve all associated symptoms of copper overload

Treatment cannot cure the underlying problem of copper build up. You will need to continue treatment throughout your lifetime.


Medications may help by:

  • Binding to the copper. This helps release copper from organs into blood. Most of the copper will then be filtered in the kidneys and passed in the urine.
  • Blocking the absorption of copper in the digestive tract.

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.

Dietary Changes

Certain changes in your diet may help reduce your copper intake:

  • Avoid foods high in copper such as liver, shellfish, nuts, chocolate, and mushrooms.
  • Have your drinking water checked for copper levels.
  • Avoid multivitamins with copper.

Liver Transplant    TOP

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.


Prevention    TOP

There are no current guidelines to prevent Wilson disease.


American Association for the Study of Liver Diseases

Wilson Disease Association


Canadian Liver Foundation

Health Canada


About Wilson disease. Wilson Disease Association website. Available at:
...(Click grey area to select URL)
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:
...(Click grey area to select URL)
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

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