Liver Diseases & Hepatology

Wilson Disease

Wilson's disease is a hereditary condition in which the body accumulates too much copper. The liver and brain are frequently the sources of symptoms. Vomiting, weakness, fluid retention in the abdomen, swelling of the legs, yellowish skin, and itching are only a few of the symptoms of the liver. Tremors, stiffness in the muscles, difficulty speaking, personality changes, anxiety, and psychosis are a few symptoms associated with the brain.

The Wilson disease protein (ATP7B) gene mutation is the primary cause of Wilson's disease. This protein moves surplus copper into the bile, where it is eliminated in waste materials. Because the disorder is autosomal recessive, a person must inherit a mutant copy of the gene from both parents to be affected. The process of diagnosis, which frequently combines blood, urine, and liver tests, can be challenging.

Wilson's disease is typically treated with dietary changes and medication. Dietary changes involve eating a low-copper diet and not using copper cookware. Medications used include chelating agents such as trientine and d-penicillamine and zinc supplements.