Wilson disease



Last Review Date: February 01, 2018


What is it?

Wilson disease is a rare inherited disorder of copper metabolism 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 bile. 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 symptoms 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 neurological symptoms such as tremor or increased muscle tension (dystonia) 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 gene. About 1 in 100 in the population is a carrier 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 signs in their blood tests similar to people with the disease and may be at increased risk of developing other liver diseases.


Tests

Laboratory investigation of Wilson disease usually begins by measuring urine and blood copper levels and a copper-binding protein called caeruloplasmin. If these initial tests suggest the presence of Wilson’s disease more complex tests may then be carried out including a liver biopsy to measure the copper level in liver and measurement of copper in urine following a dose of the copper-binding drug penicillamine.

Blood tests of liver function and clotting may be abnormal if the liver disease is severe. Diagnosis may not always be straightforward because copper overload can also occur in other liver diseases. Genetic testing for the disease provides a definitive diagnosis and may be available in specialist centres.


Treatment

The treatment of Wilson disease involves taking a copper-binding drug such as penicillamine or trientine. These bind excess copper present in the body causing it to be excreted in the urine. Patients should also adhere to a low copper diet.

Alternative treatments include the use of zinc salts and molybdate. Drug treatment needs to continue lifelong. Some patients with very severe liver disease may need a liver transplant.


Related pages

On this site
Tests: Copper, caeruloplasmin

Elsewhere on the web
Wilson's Disease Association International
Better Health Channel: Wilson's disease




Additional articles used in this review

Mak, C.M., Lam, C-W. Diagnosis of Wilson's Disease: A Comprehensive Review. Critical Reviews in Clinical Laboratory Sciences. 2008, 45(3): 263-90

Brewer GJ, Askari F, Dick RB, Sitterly J, Fink JK, Carlson M, Kluin KJ, Lorincz MT. Treatment of Wilson's disease with tetrathiomolybdate: V. Control of free copper by tetrathiomolybdate and a comparison with trientine. Transl Res. 2009 154(2):70-7.


References from Lab Tests Online-US

Primary sources of information for Wilson's disease