Wilson's disease

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Central nervous system

Copper urine test

Hepatolenticular degeneration

The goals of treatment are to reduce the amount of copper in the tissues and to manage the symptoms of the disorder. Treatment must be lifelong.

The following medications may be used:

• Zinc acetate (Galzin), which blocks the absorption (taking in) of copper in the intestinal tract.
• Trientine (Syprine), which binds (chelates) the copper and leads to increased release of the copper through the urine.
• Penicillamine (Cuprimine, Depen), which also binds copper and leads to increased urinary release of copper.

Sometimes, medications that chelate copper, especially penicillamine, can worsen the person's neurological function. There are other medications under investigation which will, hopefully, bind copper without risking possible worsening of neurological function.

In addition, a low-copper diet may be recommended, including avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish. Distilled water may be suggested because most tap water flows through copper pipes. Patients are advised to avoid using copper cooking utensils.

Symptoms are treated as appropriate, including exercises or physical therapy, and protective measures for people who are confused or unable to care for themselves.

In cases where the liver is severely damaged by the disease, liver transplantation might be considered by healthcare providers.

Wilson disease support groups can be found at www.wilsonsdisease.org and www.geneticalliance.org.

Lifelong treatment is required to control the disorder. The disorder may cause fatal effects, especially loss of liver function and toxic effects of copper on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling.

• Hepatitis
• Cirrhosis
• Death of liver tissues
• Spleen dysfunction
• Anemia
• Increased number of infections
• Injury caused by falls
• Loss of ability to interact with other people
• Loss of ability to function at work and home
• Loss of ability to care for self
• Loss of muscle mass (muscle atrophy)
• Joint contractures or other deformity
• Increased number of bone fractures
• Side effects of penicillamine
• Side effects of other medications used to treat the disorder

Call your health care provider if symptoms indicate Wilson's disease may be present. Call a genetic counselor if Wilson's disease is present in your family and you are planning to have children.

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.