Comparison of clinical, radiological and other parameters of Pulmonary Thromboembolism (PTE)) patients with and without hereditary risk factors for thrombophilia

In this study, we aimed to determine the frequency of thrombophilic factors such as protein C, protein S and antithrombin III and gene mutations such as factor V Leiden, Factor V 1299, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C in patients with diagnosis of pulmonary embolism and to compare these factors with demographic, clinical, radiological, blood gases and echocardiography findings. Files of 52 patients, diagnosed as pulmonary embolism in Abant Izzet Baysal University Medical Practice and Research Hospital, were examined for this study. The patients, not treated appropriately and timely to these factors were excluded from the study. Statistical analysis was performed with SPSS 17.0 using T-Test and Chi-square test. Gene mutation frequencies were as follows: FV Leiden (27%), Factor V 1299 (7.7%), Prothrombin G20210A (1.9%), MTHFR C677T (63.5%) and MTHFR A1298C (61.5%), respectively. No homozygous mutations of Prothrombin G20210 and Factor V 1299 genes were found. Protein C deficiency was detected in 3 patients (6.5%), protein S deficiency was detected in 1 patient (2.2%) and antithrombin III deficiency was detected in 1 patient (%2.2). Both protein C and protein S deficiencies were detected in 1 patient. A relationship was detected between acquired risk factor number and factor V Leiden mutation, presence of any of acquired risk factors and protein C deficiency or at least deficiency of either protein C, protein S or antithrombin III (p <0.05). In addition, a statistical relationship was detected between Factor V 1299 gene mutation, any mutation in MTHFR genes, the number of gene mutations and presence of hypoxemia in blood gases, the degree of hypoxemia (p <0.05).In conclusion, regarding gene mutation results, FV Leiden, MTHFR C677T and MTHFR A1298C gene mutation frequencies were higher, Prothrombin G20210A gene mutation frequency was lower, protein C, protein S and antithrombin 3 deficiencies were found similar with other studies. We think there is a need for comparative studies in our region with healthy control groups for determining the effects of these genetic and hereditary factors on the risk of pulmonary embolism and thrombosis. In addition, we can conclude that presence of an acquired risk factor in people with detected FV Leiden gene mutation and thrombophilic factors such as deficiency of protein C, protein S and antithrombin III without acquired risk factors increase the risk of pulmonary embolism.Key Words: Pulmonary embolism, hereditary thrombophilia.