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Diagnosis and treatment of Wilson disease: An update

AASLD PRACTICE GUIDELINESD iagnosis and treatment of Wilson disease :An UpdateEve A. Roberts1and Michael L. Schilsky2 This guideline has been approved by the American Asso-ciation for the Study of Liver Diseases (AASLD) and rep-resents the position of the recommendations provide a data-supported ap-proach to the Diagnosis and treatment of patients withWilson disease . They are based on the following: (1) for-mal review and analysis of the recently-published worldliterature on the topic including Medline search; (2)American College of Physicians Manual for AssessingHealth Practices and Designing Practice Guidelines1; (3)guideline policies, including the AASLD Policy on theDevelopment and Use of Practice Guidelines and theAmerican Gastroenterological Association Policy State-ment on Guidelines2; (4) the experience of the authors inthe specified topic. A significant problem with the litera-ture on Wilson disease is that patients are sufficiently rareto preclude large cohort studies or randomized controlledtrials; moreover, most treatment modalities were devel-oped at a time when conventions for drug assessment wereless stringent than at for use by physicians, these recommenda-tions suggest preferred approaches to the diagnostic, ther-apeutic, and preventive aspects of care.

premature osteoporosis and arthritis,30 cardiomyopa-Fig. 1. Approach to diagnosis of Wilson disease (WD) in a patient with unexplained liver disease. Molecular testing means confirming homozygosity for one mutation or defining two mutations constituting compound heterozygosity. *Assure adequacy of urine collection. Conversion to SI units: CPN

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