Liver & intrahepatic bile ducts
Developmental anomalies / cysts
Progressive familial intrahepatic cholestasis
Author: Komal Arora, M.D.
Topic Completed: 1 April 2012
Minor changes: 24 September 2020
Copyright: 2002-2020, PathologyOutlines.com, Inc.
PubMed Search: Byler disease liver
Table of Contents
Definition / general | Diagrams / tables | Clinical images | Microscopic (histologic) description | Microscopic (histologic) images | Electron microscopy imagesCite this page: Arora K. Progressive familial intrahepatic cholestasis. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/liverbyler.html. Accessed October 21st, 2020.
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:
- Deficiency of familial intrahepatic cholestasis 1 (FIC1), Byler disease, as PFIC type 1 (PFIC1)
- Deficiency of bile salt export pump (BSEP), Byler syndrome, as PFIC type 2 (PFIC2)
- 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
