Experience of a single center with congenital hepatic fibrosis: a review of the literature

Abstract

Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. It is one of the fibropolycystic diseases, which also include Caroli disease, autosomal dominant polycystic kidney disease, and autosomal recessive polycystic kidney disease. Clinically it is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. CHF is known to occur in association with a range of both inherited and non-inherited disorders, with multiorgan involvement, as a result of ductal plate malformation. Because of the similarities in the clinical picture, it is necessary to differentiate CHF from idiopathic portal hypertension and early liver cirrhosis, for which a liver biopsy is essential. Radiological tests are important for recognizing involvement of other organ systems. With regards to our experience at Hacettepe University, a total of 26 patients have been diagnosed and followed-up between 1974 and 2009 with a diagnosis of CHF. Presentation with Caroli syndrome was the most common diagnosis, with all such patients presenting with symptoms of recurrent cholangitis and symptoms related to portal hypertension. Although portal fibrosis is known to contribute to the ensuing portal hypertension, it is our belief that portal vein cavernous transformation also plays an important role in its pathogenesis. In all patients with CHF portal vein morphology should be evaluated by all means since portal vein involvement results in more severe and complicated portal hypertension. Other associations include the Joubert and Bardet-Biedl syndromes.

Figure 1

Pathogenesis of congenital hepatic fibrosis. Embryological and molecular perspective. ET-1: Endothelin 1;

Figure 2

Ultrasound image of a patient with congenital hepatic fibrosis (CHF). Heterogenous appearance of hepatic parenchyma. The circled area depicts the presence of portal vein cavernous transformation.

Figure 3

Abdominal computerized tomography (CT) scans of two patients with CHF. A: White arrows depict cystic dilatations of the biliary tree associated with Caroli's syndrome; B: Circled area shows portal vein cavernous transformation in a patient with Bardet-Biedl syndrome.

Figure 4

Brain magnetic resonance imaging (MRI) scans of two patients with congenital hepatic fibrosis. A: A patient with Bardet-Biedl syndrome with normal findings; B: The circled area depicts cerebellar vermis atrophy manifested by more prominent folds/sulci, associated with Joubert syndrome.

Figure 5

Liver biopsy of a patient with CHF. The left side of the image depicts a portal area with extensive fibrosis and the presence of several bile ducts with cuboidal epithelium that have arrested at different stages of the maturation process. On the right, hepatocytes with normal morphology may be seen (× 230, trichrome stain).