Inherited forms of thrombophilia in patients with venous thromboembolism

Abstract

To study periodicity detection of main prothrombotic genotypes in patients with venous thromboembolism (VTE) in the North-West region and impact assessment of special forms of thrombogenesis genetic disposition at the course of the pulmonary embolism (PE).
There examined 165 patients suffered from PE (16 - with chronic thromboembolic pulmonary hypertension (CTEPH), 149 - with acute PE: 15 - massive, 134 - nonmassive). Mutations 1691 G->A in the gene of coagulation factor V (FV Leiden), 20210 G->A in the gene of coagulation factor II and polymorphisms 677 C->T in the gene of met hylentetrahydrofolatereductase MTHFR, -455 G->А in the gene of coagulation factor I, PIA1/A2 in the GP IIIa platelet receptors gene, -675 4G/5G in the gene of plasminogen activator inhibitor PAI-1 were studied with polymerase chain reaction and restriction analysis of DNA amplified sites.
There established that 96,0 % patients with acute PE have genetic-determined forms of thrombophilia. Polymorphism 4G/5G in the gene of PAI-1 is ahead of periodicity detection (79.2%). Only 17.4 % of patients have tendency to higher thrombogenesis associated with carriage of several mutations otherwise there is the combination of more than one genetic risk factors. In 26.7 % patients suffered from massive PE prothrombotic state were not detected. By comparison groups of patients with acute Pe and CTEPH there noted differences in periodicity detection of polymorphism -455 G->А in the gene of coagulation factor I (45.0 and 12.5 %) and FV Leiden (12.1 % in the first group vs nothing in the second).
High periodicity detection of prothrombotic genotypes in patients with PE confirms inherited forms of thrombophilia importance in the VTE genesis. Patients with different variants of PE have disparity in the structure of VTE genetic risk factors.