Sihoun Hahn, MD, Director of the Wilson Disease Center of Excellence at Seattle Children’s Research Institute, discusses the diagnosis and management of Wilson disease.

Wilson disease is a genetic disorder caused by mutations on the ATP7B gene. These mutations cause excessive copper to accumulate in the body, particularly in the liver and brain. Although the copper accumulation begins at birth, symptoms do not appear until late childhood or early adolescence. By that time, patients often have serious, permanent effects, including liver failure or neurological deterioration.

As Dr. Hahn explains, clinical presentations vary among Wilson disease patients which makes it difficult to diagnose. Many patients will present with hepatitis, in which case, a hepatologist or GI specialist would likely be the first physician to suggest Wilson disease. However, some present with psychiatric symptoms, such as abrupt personality changes and inappropriate behavior, depression, neurosis or psychosis; a psychiatrist or psychologist would likely suggest Wilson disease in these patients. Diagnosis must be confirmed with genetic analysis.

Once diagnosis is confirmed with genetic analysis, Wilson disease patients are typically treated with a chelating agent, such as trientine, or with zinc salts. 

To learn more about Wilson disease and other rare genetic diseases, visit checkrare.com/diseases/congenital-and-genetic-conditions/