Congenital hepatic fibrosis as a rare cause of non-cirrhotic portal hypertension

Introduction and Objective

a case of congenital hepatic fibrosis is presented

Case report

A 19-year-old female with a medical story relevant only to epistaxis of 3 years long was referred to the liver clinic because of thrombocytopenia and transaminasemia. She denied data of decompensated advanced chronic liver disease and hepatic transition elastography was performed: S0 224, F4 (19.9 kPa). Portal Doppler ultrasound was performed: a diffuse liver disease with hepatomegaly, signs of portal hypertension, splenomegaly and ascites, and probable thrombosis of the distal splenic vein. Given the suspicion of hereditary thrombophilia, a genetic profile was requested (negative Leiden Factor V PCR, negative JAK 2 PCR, negative lupus anticoagulant, normal antithrombin III, normal protein C, normal protein S). Abdominal-pelvic angiotomography was performed: enlarged liver with no focal lesions, no dilatation of the bile duct, adequate permeability of the portal venous system, and enlarged spleen. The rest of the antibodies and tests for congenital metabolic disorders were requested (normal ANAS, normal ASMAs, normal Anti LKM1, normal AMA, normal IgG, normal ceruloplasmin, normal urine copper, low ferritin, normal transferrin). Active infection by hepatitis B, C and HIV viruses was ruled out. During follow-up, the patient developed variceal gastrointestinal bleeding, endoscopic variceal ligation was performed and management with a non-selective beta-blocker was initiated. A percutaneous liver biopsy was performed, reporting in histopathology: morphological changes consistent with malformation of the ductal plate of a congenital hepatic fibrosis type.

Funding

The resources used in this study were from the hospital without any additional financing

Declaration of interest

The authors declare no potential conflicts of interest.