• Wilson Disease

    Definition

    Wilson disease is a rare disease. It causes a build up of copper in the body. Too much copper can be poisonous.
    Copper is a mineral we get from food. Our bodies need it in small amounts. We eat much more copper than we need. The copper needs to be passed out of our bodies. Wilson disease cannot pass the copper they do not need. The copper build up in the body and damages organs like the liver, brain, kidneys, and eyes. This disease is fatal unless it is treated before serious illness develops.
    Blood Supply and Liver
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    Causes

    Wilson disease is a genetic disorder. A faulty gene causes this system to malfunction. With Wilson disease, 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

    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

    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 most commonly appear in people under 40 years old. In children, the symptoms usually begin to be expressed around four years of age.
      Symptoms of excess copper in the liver include:
      • Jaundice —yellowing of the skin
      • Swelled abdomen
      • Pain in the abdomen
      • Nausea
      • Vomiting blood
      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 (rusty or brown-colored ring around the iris)

    Diagnosis

    Wilson disease is rare. Symptoms may be attributed to other more common causes like hepatitis or mononucleosis . 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.
    Your doctor will ask about your symptoms and medical history. A physical and mental exam will be done. Your doctor will also examine your eye for brown, ring-shaped color in the cornea (Kayser-Fleischer rings).
    Tests to help identify excess copper may include:
    • Blood and urine tests—will also help to evaluate liver function
    • Liver biopsy
    Your doctor may also use an MRI scan to get detailed pictures of the brain.

    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 also be recommended in people who don't have a history of high alcohol intake but have a fatty liver.
    Genetic counseling may be helpful to review risks of genetic testing.

    Treatment

    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 accumulation. You will need to continue treatment throughout your lifetime.

    Medications

    Medications may help by:
    • Binding to the cooper. 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.

    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

    A liver transplant may be needed if you have severe liver damage. Transplantation may also be needed if someone can not tolerate the sometimes serious side effects of medications above.
    A liver transplant may be needed if you have severe liver damage. Transplantation may also be needed if someone can not tolerate the sometimes serious side effects of medications above.

    Prevention

    Currently, there are no 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/

    Health Canada http://www.hc-sc.gc.ca/

    References

    About Wilson Disease. Wilson Disease Association website. Available at: http://www.wilsonsdisease.org/about-wilsondisease.php . Accessed December 28, 2012.

    Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, 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 Apr;63(4):521-7.

    Ferenci P. Wilson disease. Clin Gastroenterol Hepatol . 2005 Aug;3(8):726-33.

    Wilson disease. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us . Updated May 2, 2011. Accessed December 28, 2012.

    Wilson Disease. National Digestive Disease Information Clearinghouse website. Available at: http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/#treatment . Accessed December 28, 2012.

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