Wilson Disease

Definition

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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Causes

Wilson disease is caused by a faulty gene. Both parents must have the faulty gene for the child to get the disease.

Risk Factors

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.

Symptoms

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.

  • Problems from excess copper in the liver are:
    • Yellowing of the skin and eyes
    • Swollen belly
    • Belly pain
    • Nausea
    • Vomiting blood
    • Fluid buildup in the legs
    • Fatigue
  • Problems from excess copper in the brain are:
    • Depression
    • Anxiety
    • Mood swings
    • Behavior changes
    • Problems speaking and swallowing
    • Shaking
    • Stiff muscles
    • Problems with balance and walking
  • Problems from excess copper in the eyes are rusty or brown-colored rings around the colored part of the eye

Diagnosis

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.

Treatment

There is no cure. It needs to be treated throughout a person's life. The goals are to:

  • Remove the extra copper
  • Prevent copper from building up again
  • Ease symptoms

Choices are:

Dietary Changes

These changes may need to be made to lower copper levels:

  • Avoiding foods that are high in copper, such as liver, shellfish, nuts, chocolate, and mushrooms
  • Checking drinking water for copper levels
  • Avoiding multivitamins that include copper

Medications

Medicine may be given to:

  • Bind to the copper to release it from the body
  • Block the digestive tract from absorbing it

Liver Transplant

People with severe liver damage may need a transplant. It may also be needed in those who are not helped by other methods.

Prevention

There are no current guidelines to prevent Wilson disease.

RESOURCES:

American Association for the Study of Liver Diseases
https://www.aasld.org
Wilson Disease Association
http://www.wilsonsdisease.org

CANADIAN RESOURCES:

Canadian Liver Foundation
http://www.liver.ca

References:

About Wilson disease. Wilson Disease Association website. Available at:
...(Click grey area to select URL)
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: 5/4/2020

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