Substantial evidence suggests that thrombosis contributes to the pathogenesis of primary pulmonary hypertension (PPH). An abnormal factor V (factor V Leiden) may contribute to thrombosis in the pulmonary microcirculation of PPH patients. A point mutation in which adenine is substituted for guanine at nucleotide 1691 (1691A) alters factor V so that it resists cleavage by activated protein C. Het...

References 1. Nicolaes GAF, Dahlback B. Factor V and thrombotic disease. Description of a Janus-faced protein. Arterioscler Thromb 2002;22:530–8. 2. Varadi K, Rosing J, Tans G, Pabinger I, Keil B, Schwarz HP. Factor V enhances the cofactor function of protein S in the APC mediated inactivation of factor VIII: influence of factor V R506Q mutation. Thromb Haemost 1996;76: 208–14. 3. Bertina RM, K...

OBJECTIVE Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins). The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients. METHODS The study included 47 Budd-Chiari syndrome ...

OBJECTIVES To study thrombophilia states in Indian patients with acute spontaneous superior mesenteric vein thrombosis (SMVT). METHODS Two men with this condition, a 56 year old and a 31 year old presenting with acute SMVT, demonstrated on CT scan, were subjected to a thrombophilia screen consisting of Protein C, S, antithrombin levels, lupus anticoagulant, anticardiolipin antibodies, fibrino...

BACKGROUND AND OBJECTIVE A simple approach to understanding molecular mechanisms leading to thrombosis is the definition of how genetic factors influence biochemical parameters of coagulation. Conflicting data have been reported regarding the role that the genotype of factor V plays in the control of plasma F1+2 levels. The aim of this study was to test whether the factor V Leiden mutation affe...