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 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:
- 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)
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)