Abstract
Genetic cholestatic liver disease is a type of disease caused by several different gene mutations, with cholestasis as the main manifestation, and is usually rare. Although these diseases differ in pathophysiology, clinical manifestations, and prognosis, they all possess the common feature of cholestasis. To this end, the European Association for the Study of the Liver published the EASL Clinical Practice Guidelines for Genetic Cholestatic Liver Disease in 2024, which provide a general approach to the management of cholestatic pruritus, detailed information on the diagnosis and treatment method of certain hereditary cholestatic liver diseases, and put forward recommendations on diagnosis and treatment with the aim to assist hepatologists (pediatric and adult) in implementing the latest diagnostic and management strategies.