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.
Highlights
Progressive familial intrahepatic cholestasis (PFIC) type 2 results from a mutation in the bile salt exporter pump, impeding bile acid transport
We present two patients diagnosed with PFIC type 2 due to severe coagulopathy and bleeding without jaundice
These two cases demonstrate an unusual presentation of PFIC type 2 in that both had severe coagulopathy without the presence or the history of jaundice in their clinical manifestations
Summary
Initial labs demonstrated AST 223 U/L, ALT 334 U/L, total bilirubin 3.4 mg/dL, direct bilirubin 2.8 mg/dL, GGT 33 U/L, partial thromboplastin time (PTT) 90.8 seconds, prothrombin time (PT) > 120.0 seconds, and INR > 13.7 She received a one-time intravenous vitamin K with repeat INR of 1.0 and was admitted for further evaluation. G>A (R1231Q)), confirming the diagnosis of progressive familial intrahepatic cholestasis (PFIC) type 2 Following discharge, she suffered from intractable pruritus despite the use of ursodiol, rifampin, cholestyramine, and hydroxyzine. But the patient had low vitamin E and D levels, despite large dose supplementation She was listed for living related donor liver transplant at this point. Case B is a 14-year-old male, clinically diagnosed with Alagille syndrome as an infant due to cholestasis without evidence of jaundice and a liver biopsy that showed paucity of intrahepatic bile ducts.
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