EASL Clinical Practice Guidelines on genetic cholestatic liver diseases

医学 肝病学 基因检测 介绍 临床实习 重症监护医学 病理 家庭医学 内科学
作者
Henkjan J. Verkade,Antonia Felzen,Verena Keitel,Richard Thompson,Emmanuel Gonzalès,Pavel Strnad,Binita M. Kamath,Saskia W. C. van Mil
出处
期刊:Journal of Hepatology [Elsevier BV]
卷期号:81 (2): 303-325 被引量:10
标识
DOI:10.1016/j.jhep.2024.04.006
摘要

Summary

Genetic cholestatic liver diseases are caused by (often rare) mutations in a multitude of different genes. While these diseases differ in pathobiology, clinical presentation and prognosis, they do have several commonalities due to their cholestatic nature. These Clinical Practice Guidelines (CPGs) offer a general approach to genetic testing and management of cholestatic pruritus, while exploring diagnostic and treatment approaches for a subset of genetic cholestatic liver diseases in depth. An expert panel appointed by the European Association for the Study of the Liver has created recommendations regarding diagnosis and treatment, based on the best evidence currently available in the fields of paediatric and adult hepatology, as well as genetics. The management of these diseases generally takes place in a tertiary referral centre, in order to provide up-to-date approaches and expertise. These CPGs are intended to support hepatologists (for paediatric and adult patients), residents and other healthcare professionals involved in the management of these patients with concrete recommendations based on currently available evidence or, if not available, on expert opinion.
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