Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.

ABSTRACT:

Background & aims

Progressive familial intrahepatic cholestasis (PFIC) relates to a group of rare, debilitating, liver disorders which typically present in early childhood, but have also been reported in adults. Without early detection and effective treatment, PFIC can result in end-stage liver disease. The aim of the paper was to put forward recommendations that promote standardisation of the management of PFIC in clinical practice.

Methods

A committee of six specialists came together to discuss the challenges faced by physicians in the management of PFIC. The committee agreed on two key areas where expert guidance is required to optimise care: (1) how to diagnose and treat patients with a clinical presentation of PFIC in the absence of clear genetic test results/whilst awa

SUBMITTER: McKiernan P 

PROVIDER: S-EPMC10772241 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature