Wilson's Disease

Tuesday, July 19, 2011

Wilson's disease is a rare inherited condition in which accumulate in the liver, brain, and other organs. Also called hepatolenticular degeneration, this genetic disorder is caused by mutations in the ATP7B protein gene, which is an ATPase that transports copper. In a healthy person, the liver releases excess copper into the bile, a digestive fluid. With Wilson's disease, this does not happen as copper builds up in the liver, injuring this organ tissue. Over time, the damage causes the liver to release the copper directly into the bloodstream. The blood carries copper all over your body, especially the brain, kidneys, and eyes. If it is left untreated, Wilson's disease is fatal. When diagnosed early, Wilson's disease is treatable, and many people with the disorder live normal lives.

Symptoms usually appear between the ages of 6 and 20 years, but cases in much older people have been described. Wilson's disease occurs in 1 to 4 per 100,000 people. About half the people with Wilson's have neurological or psychiatric problems. Most initially have mild cognitive deterioration and clumsiness, as well as changes in behavior. Specific neurological symptoms then follow, often in the form of parkinsonism. Wilson's disease is treated with medication that reduces copper absorption or removes the excess copper from the body, but, when it is too late, occasionally a liver transplant is required.