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Wilson Disease

(Wilson's Disease; Inherited Copper Toxicity)


Larry E. Johnson

, MD, PhD, University of Arkansas for Medical Sciences

Reviewed/Revised Jul 2023 | Modified Aug 2023
Topic Resources

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.

Most of the copper in the body is located in the liver, bones, and muscle, but traces of copper occur in all tissues of the body. The liver excretes excess copper into the bile for elimination from the body. Because the liver does not excrete excess copper in people with Wilson disease, copper accumulates in the liver and damages it, causing cirrhosis Cirrhosis of the Liver Cirrhosis is the widespread distortion of the liver's internal structure that occurs when a large amount of normal liver tissue is permanently replaced with nonfunctioning scar tissue. The scar... read more Cirrhosis of the Liver and liver failure Liver Failure Liver failure is severe deterioration in liver function. Liver failure is caused by a disorder or substance that damages the liver. Most people have jaundice (yellow skin and eyes), feel tired... read more . 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.

Wilson disease affects about 1 person in 30,000.

Overview of Wilson Disease

Symptoms of Wilson Disease

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).

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 fatigue and weakness due to decreased numbers of red blood cells (anemia) because red blood cells rupture (causing hemolytic anemia Autoimmune Hemolytic Anemia Autoimmune hemolytic anemia is a group of disorders characterized by a malfunction of the immune system, resulting in the production of autoantibodies that attack red blood cells as if they... read more ). The urine may contain blood. Women may have no menstrual periods or have repeated miscarriages.

Did You Know...

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

Diagnosis of Wilson Disease

  • Slit-lamp examination of the eyes

  • Blood and urine tests

  • Sometimes a liver biopsy

Doctors suspect Wilson disease based on symptoms (such as hepatitis Overview of Hepatitis Hepatitis is inflammation of the liver. (See also Overview of Acute Viral Hepatitis and Overview of Chronic Hepatitis.) Hepatitis is common throughout the world. Hepatitis can be Acute (short-lived) read more , tremors, and personality changes) that have no obvious other cause and/or on the presence of Wilson disease in relatives.

The following tests help confirm the diagnosis:

Because early treatment is most effective, anyone who has a sibling, cousin, or parent with Wilson disease is tested for the disease. If children have a relative with the disease, tests are done after about age 1 year. Tests done earlier are likely to miss the disease.

Treatment of Wilson Disease

  • Dietary changes

  • Drugs and zinc supplements

  • Possibly liver transplantation

People with Wilson 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 this 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.

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

Liver transplantation Liver Transplantation Liver transplantation is the surgical removal of a healthy liver or sometimes a part of a liver from a living person and then its transfer into a person whose liver no longer functions. (See... read more 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.

Drugs Mentioned In This Article

Generic Name Select Brand Names
No brand name available
Cuprimine, Depen, D-PENAMINE
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