Wilson disease (hepatolenticular degeneration) is an autosomal recessive defect of cellular copper export. Reduced biliary excretion leads to accumulation of copper, initially in the liver and then in other tissues, particularly the brain. Tissue copper deposition causes a multitude of signs and symptoms that reflect hepatic, neurologic, hematologic, and renal impairment. The incorporation of copper into ceruloplasmin is also impaired.Patients most often present with liver disease (which can range from asymptomatic elevations in the serum aminotransferase or bilirubin concentrations to fulminant hepatic failure to chronic hepatitis) or with neuropsychiatric disease. (See "Wilson disease: Clinical manifestations, diagnosis, and natural history", section on 'Clinical manifestations'.)

This topic will review the treatment of Wilson disease. The epidemiology, pathogenesis, clinical manifestations, and diagnosis of Wilson disease are discussed separately. (See "Wilson disease: Epidemiology and pathogenesis" and "Wilson disease: Clinical manifestations, diagnosis, and natural history" and "Wilson disease: Diagnostic tests".)

Guidelines for the treatment of Wilson disease include a 2008 consensus guideline from the American Association for the Study of Liver Diseases and a 2012 guideline from the European Association for the Study of the Liver . Our approach is generally consistent with these guidelines.

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Katherine Gray
Editorial Coordinator
Journal of Diagnostic Techniques and Biomedical Analysis
SciTechnol Journals
Email: diagnostech@pathologyinsights.org