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

Case Reports in Pediatrics (Jan 2014)

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

Affiliations

Eric Tibesar: Division of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USA
Christine Karwowski: Division of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USA
Paula Hertel: Division of Pediatric Gastroenterology, Texas Children’s Hospital, 6621 Fannin Street, Houston, TX 77030, USA
Ann Scheimann: Division of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USA
Wikrom Karnsakul: Division of Pediatric Gastroenterology, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287, USA

DOI: https://doi.org/10.1155/2014/185923
Journal volume & issue: Vol. 2014

Abstract

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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.

Published in Case Reports in Pediatrics

ISSN: 2090-6803 (Print); 2090-6811 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Medicine: Pediatrics
Website: https://onlinelibrary.wiley.com/journal/2920

About the journal