文档介绍：Clinical Practice Guidelines
EASL Clinical Practice Guidelines: Wilson’s disease
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European Association for the Study of the Liver
Summary with acute liver failure. Wilson’s disease is not just a disease of
children and young adults, but may present at any age [5].
This Clinical Practice Guideline (CPG) has been developed to Wilson’s disease is a ic disorder that is found worldwide.
assist physicians and other healthcare providers in the diagnosis Wilson’s disease is recognized to be mon than previ-
and management of patients with Wilson’s disease. The goal is to ously thought, with a gene frequency of 1 in 90–150 and an inci-
describe a number of generally accepted approaches for diagno- dence (based on adults presenting with neurologic symptoms
sis, prevention, and treatment of Wilson’s disease. menda- [6]) that may be as high as 1 in 30,000 [7]. More than 500 distinct
tions are based on a systematic literature review in the Medline mutations have been described in the Wilson gene, from which
(PubMed version), Embase (Dialog version), and the Cochrane 380 have a confirmed role in the pathogenesis of the disease [8].
Library databases using entries from 1966 to 2011. The Grades
of mendation, Assessment, Development, and Evaluation
(GRADE) system used in other EASL CPGs was used and set
against the somewhat different grading system used in the Clinical presentation
AASLD guidelines (Table 1A and B). Unfortunately, there is not
a single randomized controlled trial conducted in Wilson’s dis- The mon presentations are with liver disease or neuro-
ease which has an optimal design. Thus, it is impossible to assign psychiatric disturbances. Asymptomatic patients are most often
a high or even a moderate quality of evidence to any of the ques- detected by family screening.
tions dealt with in these guidelines. The evaluation is mostly
based on large case series which have been reported within the Age at onset of symptoms
last decades.
Ó 2011 Euro