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Wilson Disease

(Wilson's Disease; Inherited Copper Toxicity)

By Larry E. Johnson, MD, PhD, Associate Professor of Geriatrics and Family and Preventive Medicine;Medical Director, University of Arkansas for Medical Sciences;Central Arkansas Veterans Healthcare System

In Wilson disease, a rare hereditary disorder, the liver does not excrete excess copper into the bile as it normally does, resulting in accumulation of copper in the liver and liver damage.

  • Copper accumulates in the liver, brain, eyes, and other organs.

  • People with Wilson disease may have tremors, difficulty speaking and swallowing, problems with coordination, personality changes, or hepatitis.

  • Blood tests and eye examinations help confirm the diagnosis.

  • People must take drugs to remove copper and must avoid foods high in copper for the rest of their life.

Because the liver does not excrete excess copper, copper accumulates in the liver and damages it, causing cirrhosis. The damaged liver releases copper directly into the blood, and copper is carried to other organs, such as the brain, kidneys, and eyes, where it also accumulates.

Symptoms

Symptoms usually begin between ages 5 and 35 but can begin anytime from age 2 to 72.

In almost half of affected people, the first symptoms result from brain damage. They include tremors, difficulty speaking and swallowing, drooling, incoordination, involuntary jerky movements (chorea), personality changes, and even psychosis (such as schizophrenia or manic-depressive illness).

In most of the other people, the first symptoms result from liver damage, which causes hepatitis and eventually cirrhosis.

Gold or greenish gold rings (Kayser-Fleischer rings) may appear around the irises (the colored part of the eye). These rings develop when copper accumulates. In a few people, these rings are the first sign of Wilson disease.

People may have anemia because red blood cells rupture (causing hemolytic anemia). Women may have no menstrual periods or have repeated miscarriages.

Did You Know...

  • Greenish gold rings around the iris of the eyes may be a sign of Wilson disease.

Diagnosis

  • Slit-lamp examination of the eyes

  • Blood and urine tests

  • Sometimes a liver biopsy

Doctors suspect Wilson disease based on symptoms, such as hepatitis, tremors, and personality changes that have no obvious other cause. The following tests help confirm the diagnosis:

  • Slit-lamp examination of the eyes for Kayser-Fleischer rings

  • Blood tests to measure levels of ceruloplasmin (a copper-carrying protein)

  • Measurement of copper excreted in the urine

  • If the diagnosis is still unclear, a liver biopsy

If children have a family history of the disease, tests are done after about age 1 year. Tests done earlier are likely to miss the disease.

Treatment

  • Dietary changes

  • Drugs and zinc supplements

  • Possibly liver transplantation

People with this disease must follow a diet that is low in copper. Foods to avoid include beef liver, cashews, black-eyed peas, vegetable juice, shellfish, mushrooms, and cocoa. People with Wilson disease should not take any vitamin or mineral supplement that contains copper.

Drugs that bind with copper, such as penicillamine or trientine, taken by mouth, are used to remove the accumulated copper. Zinc supplements can prevent the body from absorbing copper and are used if penicillamine or trientine is ineffective or has too many side effects. Zinc should not be taken within 2 hours of taking penicillamine or trientine because it can bind to those drugs and make them ineffective. For the rest of their life, people with Wilson disease must take penicillamine, trientine, zinc, or a combination.

Without lifelong treatment, Wilson disease is fatal, usually by age 30. With treatment, people usually fare well unless the disease was advanced when it was diagnosed.

People who do not take the drugs as directed, especially younger people, may develop liver failure.

Doctors recommend that people with this disease see an expert in liver disease on a regular basis.

Liver transplantation can cure the disease and may be lifesaving for people who have Wilson disease and severe liver failure or severe liver problems that do not respond to drug treatment.

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