Hepatolenticular degeneration is common among rare diseases. China has a higher incidence rate than Western countries, and it is increasing year by year. The disease is easy to overlook and misdiagnose due to its complexity and non-specific clinical manifestations. Therefore, the British Association for the Study of the Liver has recently issued practice guidelines for the evaluation and treatment of hepatolenticular degeneration in order to aid clinicians in improving the clinical decision-making process regarding diagnosis, treatment, and long-term follow-up management. Herein is a brief introduction and interpretation of the content of the guideline, with aim of facilitating its application in clinical practice.
肝豆状核变性作为罕见病中的常见病，我国发病率高于西方国家且呈逐年上升趋势。由于复杂和非特异性的临床表现，导致该病容易漏诊、误诊。为了帮助临床医生改进肝豆状核变性的诊断、治疗以及长期随访管理中的临床决策过程，英国肝脏研究学会近期发表了《威尔逊病评估和治疗的实践指南》。现对该指南内容做简要介绍并解读，旨在方便临床实践。.