Doenças Genéticas 2008
Preamble
These recommendations provide a data-supported approach to the diagnosis and treatment of patients with Wilson disease. They are based on the following: (1) for- mal review and analysis of the recently-published world literature on the topic including Medline search; (2) American College of Physicians Manual for Assessing Health Practices and Designing Practice Guidelines1; (3) guideline policies, including the AASLD Policy on the Development and Use of Practice Guidelines and the American Gastroenterological Association Policy Statement on Guidelines2; (4) the experience of the authors in the specified topic. A significant problem with the literature on Wilson disease is that patients are sufficiently rare to preclude large cohort studies or randomized controlled trials; moreover, most treatment modalities were developed at a time when conventions for drug assessment were less stringent than at present.
