Citation

Reddy S, Fleishman N, Dempsey K, Ferren E, Kamionek M, Gopalareddy VV. ACG Case Rep. J. 2024; 11(4): e01312.

Copyright

(Copyright © 2024, American College of Gastroenterology)

DOI

10.14309/crj.0000000000001312

PMID

38590732

PMCID

PMC11000754

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of disorders characterized by defective secretion of bile acids or transport defects resulting in progressive cholestasis. These disorders usually present during infancy or childhood and are associated with progressive liver disease. PFIC is estimated to affect 1 in 50,000-100,000 births, with PFIC-2 representing half of PFIC cases. PFIC-2 presents with hepatosplenomegaly, jaundice, pruritus, fat-soluble vitamin deficiencies, and growth failure. Laboratory findings include low/normal gamma glutamyl transpeptidase levels and elevated bilirubin, transaminases, and alpha-fetoprotein levels. In this report, we present a case of PFIC-2 presenting with severe coagulopathy, bruising, subcutaneous hematomas, and acute-onset anemia.

Language: en

Keywords

ABCB11; Cholestatic Jaundice; coagulopathy; PFIC2; progressive familial intrahepatic cholestasis