What causes Wilson's disease?
Wilson's disease is a rare inherited disorder, passed in families as a recessive trait (meaning that an individual must receive a defective gene from both his or her mother and father in order to actually have symptoms of the disease). The
gene defect is believed to result in an abnormal protein within liver cells that binds to copper, retaining it in the liver. Patients with Wilson's disease also frequently have decreased amounts of a protein, called ceruloplasmin, that carries copper through the bloodstream. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance that each of their children will develop the disorder (i.e., it is an autosomal recessive disease).
Wilson's 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, death of the tissues, and scarring, which causes the affected organs to stop functioning properly. Liver failure and damage to the central nervous system (brain, spinal cord) are the most predominant, and the most dangerous, effects of the disorder.
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. |
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