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Wilson's Disease

  • Wilson's disease is a rare inherited disorder that can cause liver damage and other life-threatening conditions.

    • In Wilson's disease, your child’s body is unable to excrete excess copper (found in many foods), which builds up in the liver.

    • This causes progressive damage to your child’s liver.

    • Eventually, the copper is released into your child’s bloodstream and deposits in other organs including the brain, kidneys and eyes (corneas).

    • It affects about one in 30,000 people worldwide.

    Without treatment, Wilson’s disease may cause severe complications, including some that are life threatening.

    Pioneering research

    Faculty members of the Boston Children's Hospital Liver Transplant Program are conducting clinical studies to better understand why children’s livers fail and how we can improve our success rate in liver transplantation. We are constantly striving to translate our research findings into tangible treatments that can help sick children.

  • What causes Wilson’s disease?

    It’s caused by an inherited genetic defect.

    What are the symptoms of Wilson's disease?

    The symptoms of Wilson's disease are highly variable and can appear as early as age 5:

    • jaundice
    • abdominal pain and/or swelling
    • easy bruising or bleeding
    • enlargement of the liver and spleen
    • anemia
    • softening of the bones
    • liver failure
    • Kayser-Fleischer rings (brown rings of copper in the outer part of the eye that can be detected through an eye exam)

    Once the disease begins to affect the nervous system, other symptoms may begin to appear in your child, including:

    • tremors
    • difficulty walking
    • speech and language problems
    • changes in behavior
    • difficulty with motor skills (such as writing, talking and balancing)
  • How is Wilson’s disease diagnosed?

    Your child’s doctor can perform a variety of tests to measure the amounts of copper in your child’s body.

    These can include:

    • liver biopsy to determine the amount of copper in the liver
    • urine analysis to look for high levels of copper in the urine
    • blood tests to test for low levels of ceruloplasmin (copper protein) in the blood
    • eye exam to look for Kayser-Fleischer rings

    Your child’s doctor may also recommend genetic testing to determine whether other family members may be affected or may be carriers for the gene that causes Wilson's disease.

  • What are the treatments for Wilson's disease?

    Treatment involves medications that promote excretion of copper from your child's body and prevent it from accumulating again.

    Getting rid of the copper

    Drugs like penicillamine and trientine work by binding to copper (a process called chelation) and causing it to be excreted through the urine.

    Your child will need to take these medications for the rest of his life.

    Preventing it from accumulating again

    Once the existing copper is removed from the body, taking zinc may help to prevent it from reaccumulating. Zinc helps to block the body's absorption of copper.

    Dietary changes may also be recommended in conjunction with medication therapy, including taking vitamin B6 supplements (only if taking penicillamine).

    You child's doctor may also advise avoiding foods high in copper such as the following:

    • mushrooms
    • nuts
    • chocolate
    • dried fruit
    • liver
    • shellfish

    In advanced stages of liver disease brought on by Wilson's disease, a liver transplant may be necessary.

    What is the long-term outlook for patients with Wilson's disease?

    With proper diagnosis and treatment, the progress of Wilson's disease can be stopped and your child's symptoms may improve.

    It's important to diagnose and treat Wilson's disease as early as possible. Symptoms of the disease are progressive and, left untreated, may cause irreversible damage.

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