Liver & intrahepatic bile ducts
Developmental anomalies / cysts
Progressive familial intrahepatic cholestasis

Topic Completed: 1 April 2012

Minor changes: 24 September 2020

Copyright: 2002-2021,, Inc.

PubMed Search: Byler disease liver

Komal Arora, M.D.
Page views in 2020: 1,508
Page views in 2021 to date: 87
Cite this page: Arora K. Progressive familial intrahepatic cholestasis. website. Accessed January 20th, 2021.
Definition / general
  • Also known as Byler disease, PFIC, autosomal recessive disorder of childhood (Orphanet J Rare Dis 2009;4:1)
  • Impaired secretion of bile salts and phosphatidylcholine causes progressive intrahepatic cholestasis
  • Three types of PFIC have been identified:
    1. Deficiency of familial intrahepatic cholestasis 1 (FIC1), Byler disease, as PFIC type 1 (PFIC1)
    2. Deficiency of bile salt export pump (BSEP), Byler syndrome, as PFIC type 2 (PFIC2)
    3. Deficiency of multidrug resistant 3 (MDR3) as PFIC type 3 (PFIC3)
  • Incidence is one per 50,000 - 100,000 births; natural course of PFIC causes portal hypertension, liver failure, cirrhosis, hepatocellular carcinoma and extrahepatic manifestations
  • Treatment: liver transplantation or partial external biliary diversion (J Pediatr Surg 2012;47:501)
Diagrams / tables

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Diagram of types of PFIC

Clinical images

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Hands before and after biliary diversion

Microscopic (histologic) description
  • Enlarged portal tracts with inflammation, ductular proliferation and fibrosis
  • Canalicular cholestasis, absence of true ductular proliferation, periportal biliary metaplasia of hepatocytes, pronounced portal / lobular fibrosis, pronounced portal / lobular inflammation, hepatocellular necrosis, giant cell transformation and perturbed liver architecture (Semin Liver Dis 2011;31:3, Hepatobiliary Pancreat Dis Int 2010;9:570)
Microscopic (histologic) images

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Various images

Electron microscopy images

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Distended bile canaliculi with coarse and granular bile

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