What is it?
Wilson’s disease is a rare inherited disorder of copper metabolism where copper accumulates in the body particularly in the liver, nervous system and eyes. This eventually leads to damage to the liver and brain which cause the symptoms of the disorder.
Copper is normally absorbed from the diet by the intestine and is transported to the liver which determines how much copper needs to be retained by the body. Any excess is normally excreted into bile. In Wilson’s disease, the process whereby copper is excreted is defective. This causes copper to accumulate in the liver cells where it eventually becomes toxic leading to death of the cells and ultimately liver cirrhosis where the liver cells are replaced by scar tissue, the liver shrinks and jaundice develops. Copper released into the bloodstream from dead liver cells is deposited in the heart and brain leading to disease.
The symptoms of Wilson’s disease most commonly start in young children but they can occur for the first time in adults as well. They include tiredness and jaundice if the liver is affected and neurological symptoms such as tremor or increased muscle tension if the brain is affected. People with Wilson’s disease may have copper deposited in their eyes which causes discolouring of the eye called Kayser-Fleischer rings. Large amounts of copper are excreted in the urine of people with Wilson’s disease.
Wilson’s disease occurs in about 1 in 40,000 of the population. People with the disease have two copies of the defective gene. About 1 in 100 in the population are carriers for the disorder. They have one copy of the defective gene. Carriers of the defective gene do not develop the disorder but may have some biochemical signs similar to people with the disease and may be at increased risk of developing other liver diseases.
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