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Wilson disease: Treatment and prognosis

Author
Michael L Schilsky, MD, FAASLD
Section Editor
Bruce A Runyon, MD
Deputy Editor
Anne C Travis, MD, MSc, FACG, AGAF

INTRODUCTION

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 [1]. (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 (table 1) [2,3] and a 2012 guideline from the European Association for the Study of the Liver [4]. Our approach is generally consistent with these guidelines.

MEDICATIONS

Lifetime therapy aimed primarily at treating copper overload is required in patients with Wilson disease, and treatment should be considered in two phases: removing or detoxifying the tissue copper that has accumulated and preventing reaccumulation. Copper removal is achieved by the administration of potent chelators. The primary chelator that has been used is D-penicillamine. However, approximately 30 percent of patients do not tolerate long-term therapy because of side effects and it may not be the treatment of choice in patients with neurologic symptoms. Trientine has traditionally been used as a second-line agent for those intolerant of D-penicillamine, but it is also a reasonable option for primary therapy, and may be the preferred treatment because of its lower incidence of side effects. There are no controlled trials that have compared these agents to one another and thus recommendations for their use are based mainly on observational data and clinical experience [5].

                                

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Literature review current through: Nov 2016. | This topic last updated: Tue Nov 29 00:00:00 GMT+00:00 2016.
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