Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice

Eric Tibesar; Christine Karwowski; Paula Hertel; Ann Scheimann; Wikrom Karnsakul

doi:10.1155/2014/185923

Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2 Presenting with Severe Coagulopathy without Jaundice

Case Rep Pediatr. 2014:2014:185923. doi: 10.1155/2014/185923. Epub 2014 Jun 2.

Authors

Eric Tibesar¹, Christine Karwowski¹, Paula Hertel², Ann Scheimann¹, Wikrom Karnsakul¹

Affiliations

¹ Division of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USA.
² Division of Pediatric Gastroenterology, Texas Children's Hospital, 6621 Fannin Street, Houston, TX 77030, USA.

Abstract

Progressive familial intrahepatic cholestasis (PFIC) type 2 results from a mutation in the bile salt exporter pump, impeding bile acid transport. Patients usually present with jaundice, pruritus, growth failure, and fat soluble vitamin deficiencies. We present two patients diagnosed with PFIC type 2 due to severe coagulopathy and bleeding without jaundice.