CHF is a rare progressive fibrotic process involving the liver that results from a malformation of the ductal plate. Though the existence of such a disease process was first described in 1856 , it was much later in 1960 and 1961 when the term “congenital hepatic fibrosis” came into existence with more elaborated clinical descriptions [4, 5]. A ductal plate is the embryological precursor of intrahepatic bile ducts and is formed by a cylindrical layer of epithelial cells that surrounds a branch of the portal vein . Maturation arrest and the lack of remodeling of the ductal plate can occur resulting in the persistence of an increased number of immature embryological ductal structures, which stimulates excessive periportal fibrosis, giving rise to the various clinical manifestations .
Though CHF has been mostly associated with ARPKD, there have been a few reports associating CHF with ADPKD [8,9,10,11] like our present case, but the mutations described in this case are novel and have not been described for CHF previously. Other rare syndromic associations with CHF are with Joubert syndrome, Senior-Loken syndrome, COACH syndrome, and Cogan syndrome .
The clinical presentation and severity of symptoms in CHF are very variable. It usually presents in the childhood or early adulthood as one of the four broad types: portal hypertension, cholestatic, mixed, and latent . Due to its rarity, if CHF diagnosis is not established during childhood, it can be easily missed or unrecognized in adult patients who present with an upper GI bleed, and they often get labeled as early cirrhotics or non-cirrhotic portal hypertension.
Diverse radiological modalities are present to detect this disease. Ultrasonography with a splenoportal Doppler is usually the first investigation for such a patient with portal hypertension. Although challenging experienced radiologists can pick up the morphological changes of liver lobes, biliary dilatations and cysts, portal vein changes, and cystic changes in kidneys on ultrasonography. Cross-sectional imaging modalities like CECT or MRI can show changes in the gross morphology of the liver with accurate volume measurements. T2-weighted MRI would also show high signal intensity in the periportal regions suggesting periportal fibrosis and proliferating small biliary ductules . A high index of suspicion for CHF should be there in patients with imaging features like hypertrophy of the left lateral segment and caudate lobe, normal or hypertrophic left medial segment, atrophic right lobe, presence of splenomegaly, and other portal hypertensive features and cystic renal abnormalities . In CHF, the left medial segment is usually normal or enlarged, while in liver parenchymal cirrhosis, atrophy of the medial segment is seen . There might be other associated features of ductal plate malformation such as biliary hamartomas or Caroli’s disease, cavernoma formation, or benign regenerative nodules, but their presence is not mandatory for the diagnosis of CHF.
Although a liver biopsy clinches the diagnosis of CHF unequivocally, findings might be often mistaken for a cirrhotic liver. Widened fibrous bands in the portal tract with an increased number of irregularly shaped proliferating bile ducts, lined by normal cuboidal epithelium, is the hallmark of CHF. Hepatic lobules with hepatocyte morphology usually stay normal, unlike a cirrhotic liver . Role of genetic evaluation is not for the diagnosis, but in the fact that CHF is a rare inherited disease associated with several genetic syndromes which might have other systemic involvement later in the course and therefore, influence the treatment strategies as a whole. Also, like in this case, the presence of an autosomal dominant mutation can help us do genetic counseling of the patient and the family members.
There is no treatment modality shown till date, to stop or reverse the fibrotic pathological process in congenital hepatic fibrosis. Treatment mainly involves managing the complications, like portal hypertension, as in this case. Though endoscopic therapies such as band ligation or glue injection are the mainstay for an acute bleeding episode or primary and secondary prophylactic management of esophageal and gastric varices, surgical portosystemic shunts provide long-term relief and decrease the dependence on repeated endoscopy sessions [2, 16]. For patients who present at later stages with the signs of liver failure or extensive hepatic fibrosis, liver transplantation remains the only treatment option .