ABSTRACT

Extrahepatic portal vein thrombosis is a common cause of presinusoidal portal hypertension and often the two entities connote each other. Portal vein thrombosis is reported in patients with underlying cirrhosis by 25%. Other than cirrhotic patients; malignancies, myeloproliferative disorders, collagen tissue disorders, pancreatitis, and thrombophilias can cause portal vein thrombosis. Conditions predisposing to thrombosis are mostly acquired. Hereditary disorders predisposing to thrombosis like FV Leiden mutation, prothrombin gene mutation, MTHFR gene mutation, protein C, S, and antithrombin 3 deficiency diseases are more rare. Sometimes with an accompanying factor provoking thrombosis, these abnormalities are usually under the age of 50 and present with venous thrombosis. Here, we present a case of homozygous MTHFR gene mutation that comes with portal vein thrombosis, liver failure and ascites.