Wilson disease

Wilson's disease is characterized by an abnormal accumulation of copper, mainly in the liver and brain, which can trigger a series of psychiatric, neurological and liver problems.

Wilson's disease is an autosomal recessive disorder that affects one in 100,000 people and involves a toxic accumulation of intracellular copper, mainly in the liver and central nervous system. Over time, if copper levels in the body are not controlled, the liver becomes progressively damaged and eventually becomes cirrhotic. A small percentage of patients develop acute liver failure in later stages of the disease. In addition, patients often develop neurological complications and psychiatric problems, which can become severe.

Copper is a cofactor necessary for the proper functioning of many enzymes and is therefore essential in metabolism. Excess copper in our body is routinely excreted through bile. Wilson's disease patients cannot properly excrete excess copper from the diet and it accumulates mainly in the liver and brain. This excretion problem is due to the presence of mutations in the ATP7B gene that codes for a membrane protein of the liver cells that is responsible for the transport of copper from inside the liver cells to the bile.


Wilson's disease usually manifests in childhood or young adulthood. Most commonly, symptoms appear between the ages of 10 and 20 years, although there are cases described as early as 5 years of age and only a small percentage of cases remain asymptomatic until the age of 40 years. The symptoms of Wilson's disease are mainly neurological, psychiatric and hepatic.

Psychiatric symptoms are usually the first to appear, showing up in the form of affective and cognitive disturbances, personality changes, depression and anxiety. Neurological symptoms are extrapyramidal, affecting movements, and include: slurred speech, involuntary muscle contractions, gait abnormalities, tremor, parkinsonism, spasms and less frequently seizures. Liver damage initially manifests as increased AST-ALT levels or transaminitis, which may progress to chronic hepatitis, fibrosis and eventually cirrhosis.

Disease management

The disease can be efficiently treated by controlling copper intake and excretion. In patients with copper overload, chelation therapy is used, which consists of zinc chelators such as D-Penicillamine and Trientine, which are drugs that reduce the absorption of zinc from the diet. Once regulated, appropriate copper levels are maintained by the use of zinc salt and a low-copper diet, although there are occasions when continued chelation therapy is necessary.

Liver transplantation is recommended for patients with fulminant hepatitis or who have continued progression of liver dysfunction with no response to drug therapy.

Genes analyzed



García-Villarreal L, Daniels S, Shaw SH, et al . High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study. Hepatology. 2000 Dec;32(6):1329-36.

Mulligan C, Bronstein JM. Wilson Disease: An Overview and Approach to Management. Neurol Clin. 2020 May;38(2):417-432.

Weiss KH. Wilson Disease. 1999 Oct 22 [updated 2016 Jul 29]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

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