Diagnosis and treatment of Wilson's disease

Authors

  • Michael L. Schilsky

    1. Division of Liver Diseases and Recanati/Miller Transplantation Institute, The Mount Sinai Medical Center, New York, New York, USA
    Search for more papers by this author

Michael L. Schilsky, MD, Associate Professor of Medicine Division of Liver Diseases and Recanati/Miller Transplantation Institute, The Mount Sinai Medical Center, One Gustave L. Levy Place, Box 1633, New York, NY 10029, USA
Tel.: 212-241-1424
Fax: 212-996-5149
E-mail: michael.schilsky@mssm.edu

Abstract

Abstract: Wilson's disease (WD) has moved on from being a recognized syndrome that was uniformly fatal to a curative disease for which the genetic basis has been discovered. Most pediatric patients present with hepatic manifestations, but some may have neurologic or psychiatric features. Clinical and biochemical screening, including liver biopsy for hepatic copper analysis, remain the standard for diagnosis, but haplotype analysis for siblings is now available and should be considered for family screening when possible. Lifelong medical therapy remains the mainstay of treatment, but treatment preferences are changing from penicillamine to alternative agents such as trientine and zinc. OLT remains lifesaving for those with fulminant WD and those in whom initial medical therapy fails. The future will probably see the application of rapid and accurate molecular diagnostic testing for this disorder and new therapeutic modalities such as hepatocyte transplantation, gene replacement therapy, and gene modification.

Ancillary