A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases

This is an executive summary of the extensively rewritten guidance regarding the diagnosis and management of Wilson disease (WD). The full Guidance document with comprehensive text, complete references, and supplementary materials ("A Multidisciplinary Approach to the Diagnosis and Management of Wilson Disease: 2022 Practice Guidance on Wilson Disease from the American Association for the Study of Liver Diseases") is available on the American Association for the Study of Liver Diseases (AASLD) website (https://doi.org/10.1002/hep.32801). This executive summary provides a condensed overview, including the clinical algorithms, tables, and full complement of guidance statements. The new guidance was developed with the support and oversight of the AASLD Practice Guidelines Committee. The AASLD Practice Guidelines Committee chose to commission a guidance rather than a guideline because of the paucity of randomized controlled trials on this topic. This document was developed by (1) formal review and analysis of the recently published international literature on WD, (2) guideline policies of the AASLD, and (3) the authors' experience. Guidance statements are evidence-based whenever possible. Where evidence is unavailable or inconsistent, guidance statements are based on expert consensus opinion. This Guidance is intended for use by physicians and other health professionals. As clinically appropriate, guidance statements should be tailored to the needs of individual patients. genotype-phenotype correlations exist; modifying factors are not well delineated.[6] WD was uniformly fatal before medical therapy was introduced in the early 1950s. Treatment has evolved extensively since then.