Abstract
BackgroundCongenital hepatic fibrosis (CHF) is a rare inherited form of ductal plate malformation associated with polycystic kidney disease. The diagnosis requires histopathologic confirmation, but can be challenging to distinguish from other undefined fibrocystic liver diseases. We aimed to describe the clinicopathologic features of congenital hepatic fibrosis (CHF), with comparisons to other entities that may clinically and/or histologically mimic CHF.MethodsNineteen cases that carried a clinical and/or histologic impression of CHF were identified at our institution, of which the histology was reassessed and reappraised into two categories: CHF (n=13) and mimics (n=6). The clinicopathologic features between the two groups were analyzed and compared.ResultsThe CHF group was further sub-classified into those with clinical suspicion (CHF-c, n=8) and those as incidental histology findings (CHF-i, n=5). Patients of CHF-i were much older than CHF-c or mimics (P<0.05). Male and female were equally affected. Six of 8 CHF-c (66.7%) had concurrent kidney diseases, including 5 polycystic kidney diseases. Five of 6 mimics (83.3%) had various kidney diseases, including nephronophthisis, Alport syndrome, renal agenesis, and nephrolithiasis. None of the CHF-i patients had kidney disease, but 3 were associated with hepatic carcinomas. Histology analysis demonstrated characteristic triads (bile duct abnormalities, portal vein hypoplasia, and fibrosis) in all CHF cases. One mimic had paucity of intrahepatic bile ducts, while the other 5 mimics showed abnormal portal veins and nodular regenerative hyperplasia consistent with hepatoportal sclerosis (HPS).ConclusionsOur study demonstrates classic histology triad of CHF despite a wide spectrum of clinical presentations. HPS is unexpectedly a clinical mimicker of CHF, which can be distinguished histologically.
Highlights
Congenital hepatic fibrosis (CHF) is a rare inherited form of ductal plate malformation associated with polycystic kidney disease
Congenital hepatic fibrosis (CHF) is a rare inherited form of fibrocystic liver disease caused by incompletely remodeled ductal plates of interlobular bile ducts, resulting in excessive embryologic bile ducts, ectasia, and involution of the ductal plate remnants with fibrosis [1]
Fibrocystic liver diseases depending on the affected levels of the intrahepatic biliary tree: at the interlobular bile ducts it produces the anatomical-clinical entity CHF, at the larger segmental or septal bile ducts it causes cystic dilatation and is designated as Caroli’s disease, and at the smaller ducts of more terminal portal tract ramifications it results in microharmatoma called von Meyenburg complex (VMC) [2, 3]
Summary
Congenital hepatic fibrosis (CHF) is a rare inherited form of ductal plate malformation associated with polycystic kidney disease. Congenital hepatic fibrosis (CHF) is a rare inherited form of fibrocystic liver disease caused by incompletely remodeled ductal plates of interlobular bile ducts, resulting in excessive embryologic bile ducts, ectasia, and involution of the ductal plate remnants with fibrosis [1] This process, referred to as ductal plate malformation (DPM), is an essential precursor lesion of all variants of fibrocystic liver diseases depending on the affected levels of the intrahepatic biliary tree: at the interlobular bile ducts it produces the anatomical-clinical entity CHF, at the larger segmental or septal bile ducts it causes cystic dilatation and is designated as Caroli’s disease, and at the smaller ducts of more terminal portal tract ramifications it results in microharmatoma called von Meyenburg complex (VMC) [2, 3]. Both CHF and Caroli’s disease or syndrome are rare, and many pathologists are unfamiliar with those terminologies, leading to confusion and misinterpretations
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