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.

medical attention when their clinical disease is compara-tively mild. Because at present, de novo genetic diagnosis is expen-sive and not universally available (and sometimes incon-clusive), a combination of clinical findings and biochemical testing is usually necessary to establish the diagnosis of WD (Fig. 1). A scoring system has been de-

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