Wilson's disease

Wilson's disease
Other names	Wilson disease, hepatolenticular degeneration
Boy with Wilson's disease
Specialty	Gastroenterology
Symptoms	Swelling of the legs, yellowish skin, personality changes[1]
Usual onset	Age 5 to 35[1]
Causes	Genetic
Differential diagnosis	Chronic liver disease, Parkinson's disease, multiple sclerosis, others[2][3]
Treatment	Dietary changes, chelating agents, zinc supplements, liver transplant[1]
Frequency	~1 per 30,000[1]

Wilson's disease (also called Hepatolenticular degeneration) is a genetic disorder characterized by the excess build-up of copper in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build-up in the abdomen, swelling of the legs, yellowish skin, and itchiness. Brain-related symptoms include tremors, muscle stiffness, trouble in speaking, personality changes, anxiety, and psychosis.^[1]

Wilson's disease is caused by a mutation in the Wilson disease protein (ATP7B) gene. This protein transports excess copper into bile, where it is excreted in waste products. The condition is autosomal recessive; for people to be affected, they must inherit a mutated copy of the gene from both parents. Diagnosis may be difficult and often involves a combination of blood tests, urine tests and a liver biopsy. Genetic testing may be used to screen family members of those affected.^[1]

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. Complications of Wilson's disease can include liver failure, and kidney problems. A liver transplant may be helpful to those for whom other treatments are not effective or if liver failure occurs.^[1]

Wilson's disease occurs in about one in 30,000 people.^[1] Symptoms usually begin between the ages of 5 and 35 years.^[1] It was first described in 1854 by German pathologist Friedrich Theodor von Frerichs and is named after British neurologist Samuel Wilson.^[4]