Evaluation of thrombophilic risk factors in patients diagnosed with pulmonary embolism: Single center experience

ABSTRACT

To evaluate the thrombophilic risk factors and incidence in patients presenting at the hematology outpatient clinic for further investigation after the diagnosis of pulmonary embolism. A total of 15 cases [8 male, 7 female] with the diagnosis of pulmonary embolism and referred to hematology clinic for investigating thrombophilic risk factors were retrospectively evaluated. Thrombophilic screening tests for these patients are as follows factor V leiden [FVL], prothrombin G20210 A [PTG] and methylentetrahydrofolate reductase [MTHFR C677 T] gene mutations, protein C [PC], protein S [PS] and antithrombin III [AT III] deficiency, active protein C resistance [APC-R], antinuclear antibodies [ANA], anti ds DNA, anticardiolipin antibodies IgM and IgG, lupus anticoagulant, homocysteine and factor VIII levels were investigated. The commonest thrombophilic defect was MTHFR C677T gene mutation [n=12] [80%].Single defect [n=4] was found at a rate of 26.6%, double defects [n=2] 13.3%, triple defects [n=5] 33.3% and four defects [n=3] 20%. One patient had no defects. In this retrospective study carried out in patients with pulmonary embolism, MTHFR gene mutation was found to be the commonest cause for hereditary thrombophilia as a single risk factor and/or together with other thrombophilic risk factors