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About Wilson Disease

Wilson disease is a genetic disorder that is fatal unless detected and treated before serious illness from copper poisoning develops. Wilson disease affects approximately one in 30,000 people worldwide. The genetic defect causes excessive copper accumulation in the liver or brain.

Small amounts of copper are as essential as vitamins. Copper is present in most foods and most people have much more copper than they need. Healthy people excrete copper they don't need but Wilson disease patients cannot.

Copper begins to accumulate immediately after birth. Excess copper attacks the liver or brain, resulting in hepatitis, psychiatric, or neurologic symptoms. The symptoms usually appear in late adolescence. Patients may have jaundice, abdominal swelling, vomiting of blood, and abdominal pain. They may have tremors and difficulty walking, talking and swallowing. They may develop all degrees of mental illness including homicidal or suicidal behavior, depression, and aggression. Women may have menstrual irregularities, absent periods, infertility, or multiple miscarriages. No matter how the disease begins, it is always fatal if it is not diagnosed and treated.

The first part of the body that copper affects is the liver. In about half of Wilson disease patients the liver is the only affected organ. The initial physical changes in the liver are only visible under the microscope. When hepatitis develops, patients are often thought to have infectious hepatitis or infectious mononucleosis when they actually have Wilson disease hepatitis. Testing for Wilson disease should be performed in individuals with unexplained, abnormal liver tests.

 

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