| Definition: | An inherited disorder where there is excessive amounts of copper in the body, which causes a variety of effects including liver disease and damage to the nervous system.
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| Alternative Names: | Hepatolenticular degeneration
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| Causes, incidence, and risk factors: | Wilson disease (hepatolenticular degeneration) is a rare inherited disorder, affecting approximately 1 out of 1 million people. If both parents carry an abnormal gene for Wilson disease there is a 25% chance that each of their children will develop the disorder (i.e., Wilson is an autosomal recessive disease). It is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. The disorder most commonly appears in people under 40 years old. In children, the symptoms begin to be expressed by around 4 years old.
Wilson disease causes the body to absorb and retain excessive amounts of copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, necrosis (death of the tissues), and scarring, which causes decreased functioning of the organs affected. Liver failure and damage to the central nervous system (brain, spinal cord) are the most predominant, and the most dangerous, effects of the disorder.
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Review Date: 8/31/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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