Wilson's

Wilson's disease is a rare autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.

The condition is due to mutations in the Wilson disease protein (ATP7B gene) on chromosome 13. ATP7B encodes a hepatic copper-transporting protein that plays a crucial role in copper detoxification in the liver. Wilson's disease is named after Samuel Alexander Kinnier Wilson (1878–1937), the British neurologist who first described the condition in 1912.

Signs and symptoms[edit | edit source]

Wilson's disease can lead to cirrhosis, acute liver failure, or damage to the central nervous system. Symptoms often begin between the ages of 12 and 23. Symptoms can vary widely in severity and type, making the disease difficult to diagnose.

Diagnosis[edit | edit source]

Diagnosis of Wilson's disease can be challenging due to the variety of symptoms that may be present. It is typically based on symptoms, blood tests, and liver biopsy. The presence of Kayser–Fleischer rings in the eyes can also aid in diagnosis.

Treatment[edit | edit source]

Treatment for Wilson's disease involves reducing the amount of copper in the body and preventing it from accumulating again. This can be achieved through the use of chelating agents or zinc salts. In severe cases, a liver transplant may be necessary.

Epidemiology[edit | edit source]

Wilson's disease occurs in about 1 in 30,000 people. It affects people of all ethnic backgrounds.

History[edit | edit source]

The disease is named after Samuel Alexander Kinnier Wilson, a British neurologist who described the disease in 1912.

See also[edit | edit source]

Wilson's Resources
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