Unexplained portal hypertension and confusion in an elderly patient: a late presentation of congenital hepatic fibrosis

A 71-year old male patient with myelodysplastic syndrome presented with severe signs of portal hypertension. There was no underlying cirrhosis nor portal vein thrombosis. Despite liver stiffness being high, hepatic vein catheterisation failed to show an increased hepatic venous pressure gradient compatible with clinically significant portal hypertension. Finally, a liver biopsy showed enlarged fibrotic portal tracts with multiple dilated immature bile ducts compatible with congenital hepatic fibrosis – there was no macroscopic biliary disease. Mostly presenting in childhood or adulthood, congenital hepatic fibrosis is an uncommon cause of non-cirrhotic portal hypertension that can also have a late presentation. Treatment is supportive with management of portal hypertension (and its complications); liver transplantation is curative but is reserved for cases with liver failure or recurrent cholangitis (mostly in Caroli syndrome).

Keywords: non-cirrhotic portal hypertension, congenital hepatic fibrosis, type B hepatic encephalopathy.