A Delayed Presentation of Congenital Hepatic Fibrosis: A Case Report

Abstract

Congenital hepatic fibrosis (CHF) is a rare inherited disorder of the porto-biliary system. It is as a result of defective remodeling of the ductal plate which leads to progressive fibrosis of the portal tract. Classic histopathological findings include fibrous enlargement of the portal tract and irregularly shaped proliferating bile ducts. A 67-year-old African American female with a history of hypertension and intracranial bleed was evaluated for elevated liver enzymes. She denied alcohol use. Physical exam was unremarkable with a benign abdominal exam. Labs revealed normocytic anemia and thrombocytopenia, Alkaline Phosphatase (ALP) of 1681u/l, Alanine transaminase(ALT)of 400u/l, Aspartate transaminase(AST)of 189u/l, and a total bilirubin of 0.3mg/dl. Gamma glutamyl transferase was elevated at 1639u/l. Three months ago, ALT and AST were normal. However, ALP had been chronically elevated. Abdominal ultrasound showed splenomegaly and hepatomegaly with heterogeneous parenchyma and nodular contour with no dilatation of common bile duct(CBD)or intrahepatic biliary ducts. Hepatitis panel, anti-mitochondrial antibody, antinuclear antibody, anti-smooth muscle antibody, serum ferritin, and serum protein electrophoresis were within normal limits. Magnetic resonance cholangiopancreatography showed normal diameter of the CBD, variant anatomy of the intrahepatic biliary drainage with no obstruction or dilatation but with diffuse hepatic fibrosis. Liver biopsy was performed, which revealed extensive portal fibrosis with dilated bile ducts with no inflammatory infiltrate consistent with congenital hepatic fibrosis. Kerr et al. first described CHF in 1961. It is one of the fibrocystic diseases of the liver with an estimated frequency of 1:20,000 live births. The pathophysiology of CHF remains elusive. A mutation in PKHD1 gene located on chromosome 6p12 has been described as a potential cause. CHF has a wide range of clinical presentations, with age of onset ranging from neonatal period to late adulthood. The symptoms include cholangitis, portal hypertension, hypersplenism, and gastroesophageal varices. However some people remain asymptomatic. Liver biopsy is considered the gold standard for diagnosing CHF. There is no therapy to repair the primary ductal malformation or reverse the fibrosis. Management is supportive. CHF is a rare disorder, based on clinical features and abnormal LFTs. A high index of suspicion is needed, given that it can also present in adult population.Figure: Pathologic findings: Examination of the core needle biopsy of the liver shows an extensive portal fibrosis that connects in multiple areas to form bridges and nodules (liver cirrhosis). The portal tracts contain abnormal ducts surrounded by the fibrosis. These ducts are dilated and focally contain bile plugs [Fig-A, H&E, 200X]. Trichrome stain highlights the areas of fibrosis [Fig-B, 200X]. The lobules and portal tracts show no evidence of inflammation. The histologic features of this case are consistent with congenital hepatic fibrosis.Figure: Magnetic resonance cholangiopancreatography (MRCP) image showS variant anatomy of the intrahepatic biliary drainage (arrow).Table: Table. Basic laboratory trend over time