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Wilson disease is a rare inherited disorder of copper where copper accumulates in the body particularly in the liver, nervous system and eyes. This build up of copper eventually leads to damage to the liver and brain which cause the symptoms of the disorder. It is also known as hepatolenticular degeneration
Copper is normally absorbed from the diet by the intestine and transported to the liver which determines how much copper needs to be kept by the body. Any excess is normally excreted into . In Wilson’s disease, the process whereby copper is excreted does not work properly. This causes copper to accumulate in the liver cells where it eventually becomes toxic leading to cell death and ultimately liver cirrhosis where the liver cells are replaced by scar tissue. Copper released into the bloodstream from dead liver cells is deposited in the heart and brain leading to disease.
The of Wilson 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 symptoms such as tremor or increased muscle tension () if the brain is affected. People with Wilson 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 disease.
Wilson disease occurs in about 1 in 40,000 of the population. People with the disease have two copies of the defective . About 1 in 100 in the population is a for the disorder (meaning they have one copy of the defective gene). Carriers of the defective gene do not develop the disorder but may have some in their blood tests similar to people with the disease and may be at increased risk of developing other liver diseases.
Last Review Date: February 01, 2018