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

Research paper by Eric E Tibesar, Christine C Karwowski, Paula P Hertel, Ann A Scheimann, Wikrom W Karnsakul

Indexed on: 06 Jul '14Published on: 06 Jul '14Published in: Case reports in pediatrics


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.