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Boston, MA 02115
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My Child Has:
Wilson's Disease
Programs that treat this condition or perform this procedure
 Center for Childhood Liver Disease  
What is Wilson's disease?
Wilson's disease is a rare inherited disorder that affects about one in 30,000 people worldwide. In Wilson's disease, the body is unable to excrete excess copper. Copper is found in most foods and most people get an excess of copper in their daily diet. Normally, the body releases copper into bile, a substance secreted by the liver, which helps in digestion and detoxification of the body.

In Wilson's disease, the copper is not released into the bile, but rather builds up in the liver. This causes progressive damage to the liver. Eventually, the copper is released into the bloodstream and deposits in other organs including the brain, kidneys and eyes (corneas). Without treatment, the disease may cause severe complications, including some that are life-threatening.

What are the symptoms of Wilson's disease?
The symptoms of Wilson's disease are highly variable and usually appear between the ages of 5- 35:
  • 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, 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?
Doctors can perform a variety of tests to measure the amounts of copper in the body. These can include: a 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, and an eye exam to look for Kayser-Fleischer rings.

Your 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?
With proper diagnosis and treatment, the progress of the disease can be stopped and symptoms may improve. Drug therapy is usually continued for life. Treatment involves medications that promote excretion of copper from the body and prevent it from reaccumulating. Drugs like penicillamine and trientine work by binding to copper (a process called chelation) and causing it to be excreted through the urine.

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) and avoiding foods high in copper such as mushrooms, nuts, chocolate, dried fruit, liver and shellfish.

It is 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. In advanced stages of liver disease brought on by Wilson's disease, liver transplantation may be necessary.

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