Recommendations from the European Association for the Study of the Liver and the European Reference Network for Rare Liver Diseases Clinical Practice Guidelines for hepatolenticular degeneration
10.3760/cma.j.cn501113-20250408-00130
- VernacularTitle:《欧洲肝病学会和欧洲罕见肝病网络的肝豆状核变性临床实践指南》推荐意见
- Author:
Shan TANG
1
;
Wei HOU
1
;
Sujun ZHENG
1
Author Information
1. 首都医科大学附属北京佑安医院肝病中心一科，北京 100069
- Publication Type:Journal Article
- Keywords:
Wilson disease;
Management;
Diagnosis;
Therapy;
European Association for the Study of the Liver;
European Reference Networks
- From:
Chinese Journal of Hepatology
2025;33(10):988-992
- CountryChina
- Language:Chinese
-
Abstract:
Wilson disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive inherited disorder of copper metabolism that primarily affects the liver, brain, and other organs. The diagnostic criteria include clinical features, biochemical tests (plasma ceruloplasmin, 24-hour urinary copper, liver copper content), and molecular genetic analysis. The Leipzig scoring system, supplemented by the use of exchangeable copper, is recommended for diagnosis. Pharmacotherapy mainly includes chelating agents (such as penicillamine and trientine) and zinc salts. Chelating agent therapy is recommended only for patients with severe liver disease. Patient monitoring is primarily based on clinical symptoms, liver biochemical indices, and copper metabolism parameters (such as 24-hour urinary copper and exchangeable copper) to identify poor adherence as well as over-treatment or under-treatment situations. The diagnosis and treatment of acute liver failure with WD is extremely challenging, as the diagnosis is difficult and medical treatment cannot save life. The role of liver transplantation has been clearly recognized in the treatment of acute liver failure with WD, and it may also be considered in cases with neurological involvement.
