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

Objective: 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. Methodology: 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 dsDNA, anticardiolipin antibodies IgM and IgG, lupus anticoagulant, homocysteine and factor VIII levels were investigated. Results: 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. Conclusion: 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.