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Papers of the Week

2021 Jun 03

Orphanet J Rare Dis



Epidemiology and burden of progressive familial intrahepatic cholestasis: a systematic review.


Jones-Hughes T, Campbell J, Crathorne L
Orphanet J Rare Dis. 2021 Jun 03; 16(1):255.
PMID: 34082807.


Progressive familial intrahepatic cholestasis is a rare, heterogeneous group of liver disorders of autosomal recessive inheritance, characterised by an early onset of cholestasis with pruritus and malabsorption, which rapidly progresses, eventually culminating in liver failure. For children and their parents, PFIC is an extremely distressing disease. Significant pruritus can lead to severe cutaneous mutilation and may affect many activities of daily living through loss of sleep, irritability, poor attention, and impaired school performance.