Development of venous thromboembolism in patients with hereditary thrombophilia risk factors and evaluation of genetic and biochemical parameters affecting development of venous thromboembolism

Venous thromboembolism (VTE) is still an important cause of mortality and morbidity. Many hereditary and acquired factors play a role in the etiology of VTE. Hereditary thrombophilia, which may create a predisposition to VTE, has a tendency of staring at a younger age and repeat later. For this reason, screening hereditary thrombophilia factors is important for patients with a diagnosis of VTE in relation to treatment and follow up plans. This study at Abant Izzet Baysal University?s College of Medicine Health Practice and Research Center included 83 patients. Of these 83 patients, 60 patients (72.3%) who were diagnosed with VTE, were included in the study group and 23 of them (27.7%) who were not diagnosed with VTE, were in the control group. It was aimed to determine frequency of thrombophilia factors such as Factor V Leiden (FVL), Factor V 1299 R, Prothrombin G20210A (Faktör II), methylene tetrahydrofolate reeducates C677T (MTHFR C677T), methylenetetrahydrofolate reductase (MTHFR A1298C), plasminogen activator inhibitor-1 (PAI-1), angiotensin-converting enzyme (ACE), gene mutation and protein C (PC), free protein S (PS), anti thrombin III (AT III) and homocysteine and compare impacts of these factors on patients? demographics, clinic, radiological, pulmonary embolism (PE) development patterns and cancer association with parameters of repetition and treatment duration on follow-up and follow up treatment plans of these 83 patients. Those patients whose diagnosis, treatments and follow-ups were not followed in the center and on time according to the above factors were excluded from this study. SPSS 15.0 statistical analysis software was used. T-test, the chi-square test, Mann-Whitney U test, Kruskal-Wallis test, oneway ANOVA test, Post Hoc Tests and factor analysis were used. In this study, of the patients who developed VTE, 25 of them were male and 35 of them were female. As a result, among the patients in the study group, mutation was observed 37.4% of the patients in FVL, 13.4% of them in factor II, 47.5% of them in MTHFR C677, 53.3% of them in MTHFR A1298C, 31.6% of them in PAI-1, 39.0% in ACE and 8.3% them in Factor V H1299 R gene. When Factor V H1299 R was evaluated in relation to the presence of mutations related to gender of the study group, mutation was observed in 0.0% of male patients and 14.3% of female patients. This was statistically significant (chi-square p = 0.048). Protein C deficiency was observed with 25 patients (41.7%) in the study group, free protein S deficiency was observed with 25 patients (41.7%) in the study group and with three patients (13.0%) in the control group. Free protein S deficiency was higher among patients in the study group than in patients in the control group. This was statistically significant (chi-square p = 0.023). In the study group, AT III deficiency was observed in one patient (1.7%). In the study group, elevated homocysteine was observed in 18 (51.4%) female patients, in 25 male patients (100.0%) and in 43 patients (71%) in total. In the control group, elevated homocysteine was observed in three female patients (20.0%), in five male patients (62.5%) and in total 8 patients (34.8%). Elevated homocysteine was higher among the patients in the study group than among patients in the control group. This difference was statistically significant (chi-square p = 0.02). Elevated homocysteine was more frequent among male patients than among female patients in the study group, which was statistically significant (chi-square p 0.001). Elevated homocysteine in the control group was more frequent among male patients than among female patients. This was statistically significant (chi-square p = 0.042). Among the total sample of 83 patients, there was statistically significant difference between male and female patients (t-test p 0.003). In the study group, one or more vein thrombosis extremities was observed in 2 cases (3.3%), bilateral lower extremities were observed in 24 cases (40.0%), right low extremities were observed in 34 cases (56.7%). Of these patients, it was detected that 51 of cases (85.0%) had popliteal vein, 33 of cases (55.0%) had superficial femoral vein and 29 cases (48.3%) had main femoral vein, 22 cases (36.7%) had deep femoral vein thrombosis. Among nine patients with VTE development, 8 (22.9%) females had pulmonary embolism (PE) and 1 (4.0%) male had PE.. This difference between men and women was statistically significant (p = 0.044). Among 10 patients (16.7%) with VTE development, cancer was also detected and in 16 (26.7%) patients VTE recurrence was detected. In the control group, in one patient (4.3%) superficial thrombophlebitis (STF) recurring was found. The difference between study group and control group was significant (p = 0.024). It was observed that development of VTE was found to be spontaneous with 24 (40%) patients. Of these 24 patients (100%), the development of VTE was found to be related to hospital bed treatment (or hospitalization) with 17 of female patients (48.6%) and 7 of male patients (28:0%). Hospitalization (hospital bed treatment) associated with the development of VTE was higher in women than men in the study group. The difference was statistically significant (t-test p = 0.020). The development of VTE was related travelling long journeys with 7 patients (11.7%) whereas the development of VTE was found to be associated with pregnancy with 5 (8.33%) cases. When patterns of development were compared with causes of thrombophilia hereditary, the frequency of FVL gene mutation was higher among patients who had spontane development of VTE than those patients long journey history. The difference was statistically significant (Scheffe p = 0.004), (Games-Howel p = 0.037). Frequency of ACE gene mutations in the development of the incidence of VTE in hospitalized patients was higher than the patients who traveled long journeys. The difference was statistically significant (Games-Howel p = 0.038). The low free protein S was higher among patients who had VTE spontaneous development compared to patients who received hospital bed treatment. The difference was statistically significant (Scheffe p= 0.001). Keywords: Hereditary thrombophilia, superficial thrombophlebitis, venous thromboembolic disorders.