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.
(See also Overview of Minerals.)
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 and liver failure. 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.
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).
In most of the other people, the first symptoms result from liver damages due to inflammation (hepatitis) and eventually scarring (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.
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People may have fatigue and weakness due to decreased numbers of red blood cells (anemia) because red blood cells rupture (causing hemolytic anemia). The urine may contain blood. Women may have no menstrual periods or have repeated miscarriages.
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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, 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:
Slit-lamp examination of the eyes for Kayser-Fleischer rings
Blood tests to measure levels of ceruloplasmin (a protein that transports copper through the bloodstream)
Measurement of copper excreted in the urine
If the diagnosis is still unclear, a liver biopsy
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
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.
