Objectives: Congenital hepatic fibrosis (CHF) is predominantly an autosomal recessive disease caused by ductal plate malformation of intrahepatic small bile duct branches. Most common disease associations of CHF include autosomal recessive polycystic kidney disease (ARPKD) and Caroli disease. Less common associations include Meckel-Gruber syndrome, June syndrome, and Bardet-Biedl syndrome. We studied the clinicopathologic features of this relatively rare condition during adulthood, Methods: Five cases with confirmed clinicopathologic diagnosis of CHF were identified in the archives (2010–2016), including three liver core biopsies and two resections. A detailed morphologic analysis was performed and clinical data were obtained from electronic medical records. Results: Patients' median age at diagnosis is 46.6 years (range, 26–69 years). Male to female ratio is 3:2. Clinical manifestations are quite variable, ranging from being asymptomatic with mildly elevated liver enzymes to full-blown hepatic encephalopathy requiring liver transplant. One case has associated Caroli disease, one case has concomitant polycystic kidney disease and congenital anomaly of hepatic vasculature, one case has associated Caroli disease and ARPKD, and the remaining two cases have no other disease association. Histologically, all cases show prominent small interlobular bile ductular proliferation. Eighty percent of cases have fibrosis limited to portal/periportal areas, and only one case has well established liver cirrhosis (trichrome stain). Significant portal inflammation, steatosis, steatohepatitis, and hepatocellular necrosis are not evident. Portal vein branches are inconspicuous in 80% of cases. Conclusion: CHF is a congenital fibropolycystic disorder characterized by hepatic ductal plate malformation. Common clinical presentations are portal hypertension and normal/near normal liver enzymes. Histologic differential diagnoses include other biliary diseases with portal fibrosis, idiopathic non-cirrhotic portal hypertension, and von Meyenburg complexes. Despite helpful morphologic features (anastomosing biliary channels in irregular fibrous portal tracts) to suspect diagnosis of congenital hepatic fibrosis in biopsies, a multidisciplinary diagnostic approach by pathologists, radiologists, and hepatologists is crucial for accurate evaluation. [ABSTRACT FROM AUTHOR]
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