A Practice Guideline on Wilson Disease

Abstract

This guideline is intended for use by physicians. It describes preferable up-to-date approaches to the diagno-sis and treatment of patients with Wilson disease. As their purpose is to direct patient care, these guidelines should not be considered inflexible mandates. They have been developed in a manner consistent with the American As-sociation for the Study of Liver Diseases Policy Statement on Development and Use of Practice Guidelines. These guidelines provide data-supported approaches to the diagnosis and management of patients with Wilson disease. They are based on, first, broad-based review of the published literature in pediatrics and medicine including Medline searches on hepatolenticular degeneration and related subjects; and second, 40 accumulated years of per-sonal experience of the authors. In order to standardize recommendations as much as possible, each has been characterized with Roman numerals I through IV to in-dicate the quality of evidence on which the recommenda-tion is based (Table 1)., A significant problem with the literature on Wilson disease is that patients are sufficiently rare to preclude large cohort studies or randomized con-trolled trials; moreover, most treatment modalities were developed at a time when conventions for drug assess-ment were less stringent than currently.