Factor V Leiden (FVL), Prothrombin G20210A and MTHFR C677T Mutations among Patients of Budd-Chiari Syndrome

Abstract

CS is not a primary disease of the liver parenchyma but subsequent liver dysfunction following obstruction of hepatic veins or the suprahepatic Inferior Vena Cava, hepatic venous outflow obstruction results in an elevated sinusoidal pressure and leads to hepatic congestion. Usually, congestion is followed by subsequent centrilobular fibrosis and nodular regenerative hyperplasia that lead to chronic liver dysfunction and cirrhosis; in some instances, however, it results in fulminant hepatic failure requiring emergency liver transplantation. BCS is a life-threatening group of disorders resulting from hepatic venous outflow obstruction, that may occur at the level of the hepatic venules (hepatic veno-occlusive disease), the large hepatic veins, inferior vena cava (IVC), or the right atrium (congestive hepatopathy). The clinical presentation is highly variable; from being asymptomatic to fulminate, acute, sub-acute, and chronic subtypes depending on duration of the disease, biochemical disturbance, and liver histology. FVL (rs6025) is a variant of human factor V which causes an increase in blood clotting (hypercoagulability). Due to this mutation, Protein C, an anticoagulant protein which normally inhibits the pro-clotting activity of factor V, is not able to bind normally to Factor V, leading to hypercoagulable state.