Liver and intrahepatic bile ducts-nontumor
Reviewers: Komal Arora, M.D. (see Reviewers page)
Revised: 9 April 2012, last major update April 2012
Copyright: (c) 2004-2012, PathologyOutlines.com, Inc.
● Also known as Progressive familial intrahepatic cholestasis (PFIC); autosomal recessive disorder of childhood (Orphanet J Rare Dis 2009 Jan 8;4:1)
● Impaired secretion of bile salts and phosphatidylcholine causes progressive intrahepatic cholestasis
● Three types of PFIC have been identified: (i) deficiency of familial intrahepatic cholestasis 1 (FIC1), Byler's disease, as PFIC type 1 (PFIC1); (ii) deficiency of bile salt export pump (BSEP), Byler's syndrome, as PFIC type 2 (PFIC2); and (iii) 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)
Hands before and after biliary diversion
Diagram of types of PFIC
● 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)
Electron microscopy images
Distended bile canaliculi with coarse and granular bile
End of Liver and intrahepatic bile ducts-nontumor > Developmental anomalies/cysts > Bylerís disease
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