Wilson's Disease is a genetic disorder that is fatal unless detected and treated before serious illness develops from copper poisoning. Wilson's Disease affects one in thirty thousand people world wide. The genetic defect causes excessive copper accumulation. Small amounts of copper are essential as vitamins. Copper is present in most foods, and most people get much more than they need. Healthy people excrete copper they don't need, but Wilson's Disease patients cannot.
Copper begins to accumulate immediately after birth. Excess copper attacks the liver and 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, 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 is not diagnosed and treated. The first part of the body that copper affects is the liver. In about half of Wilson's Disease patients, the liver is the only affected organ. The 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's Disease hepatitis. Any unexplained abnormal liver test should trigger thought about Wilson's Disease.
How is Wilson's Disease Diagnosed?
The diagnosis of Wilson's Disease is made by relatively simple tests which almost always make the diagnosis. The tests can diagnose the disease in both