EMJ Hepatology 12 [Supplement 2] . 2024

In this issue

Professor Berg is a leading expert in progressive familial intrahepatic cholestasis (PFIC), a group of rare, inherited, progressive liver diseases most commonly beginning in childhood and infancy. The article reviews the adult presentation form of PFIC, which due to its rarity and clinical features means that it is often misdiagnosed, leaving patients to cope with challenging symptoms such as intense pruritus and fatigue. Untreated, PFIC can lead to end-stage liver disease. However, since treatments exist to reduce high serum bile acid levels, resolve itch and decrease the risk of liver damage, improving diagnosis of this disease is paramount.