Hereditary thrombophilia risk factors in patients with venous thromboembolism

Abstract

Venous thromboembolic disease (VTD) is a serious cause of mortality and morbidity with an incidence of 0.1% per year. The etiology of VTD is multifactorial and associated with acquired and hereditary conditions. The aim of our study was to investigate the presence of rare genetic mutations in VTD patients and to evaluate their distribution according to thrombosis sites. The study group consisted of 107 patients who underwent genetic testing for thrombophilia due to VTD between 2015 and 2017. Patients with VTD who underwent thrombophilic genetic examination by polymerase chain reaction method were included in the study. Antithrombin III, protein C and protein S deficiency patients diagnosed with biochemical tests were excluded from the study. The demographic characteristics and clinical results of the patients were obtained from the hospital archive. The control group consisted of 112 healthy individuals randomly selected from the community. The patient group and the control group were compared. The mean age of the patients was 39.6 years. The female/male ratio was 1.7. Advanced age and female gender were statistically significantly more frequent in the patient group (In both, p=0.0001). Factor V G1691A and B-Fibrinogen-455 genetic defects were statistically significantly higher in the patient group (Respectively; p=0.008, p=0.049). The most frequent (54.2%) PAI-4G&5G heterozygous gene defect was found in the patients. Deep venous thrombosis was detected in 54.2%, intraabdominal VTD in 4.7%, pulmonary embolism in 27.1%, and cerebral venous thrombosis in 30.8% of the VTD patients. Thrombophilic genetic mutations are not uncommon in patients with VTD. Thrombophilic genetic mutations in VTD etiology and in selected patients should be investigated. In patients without known thrombophilia mutations, rare thrombophilic mutations should be examined.

A Case of Portal Vein Thrombosis in a Patient With Methylenetetrahydrofolate Reductase A1298C Polymorphism

“…Though MTHFR A1298C has not been shown to affect the enzyme's function and subsequent homocysteine levels, research is conflicting regarding MTHFR's possible association with a prothrombotic condition. Some studies found that the MTHFR A1298C polymorphism was significantly more common in patients with deep vein thrombosis than controls [11], while others found that neither MTHFR C677T nor A1298C was significantly associated with deep vein thrombosis [12], only MTHFR C677T is associated with thrombosis [13], or that either variant is associated with thrombosis but only when present with factor V Leiden [14]. Thus, further research is warranted to investigate the possible association of the different MTHFR variants with incidences of thromboses, with and without other genetic hypercoagulable states and risk factors, as well as in association with homocysteine levels.…”

Association of two variants C677T and A1298C MTHFR gene polymorphisms with ischemic heart, ischemic stroke and venous thromboembolism diseases in a sample of Arabic Iraqi patients

“…Other Turkish study demonstrated that there was no significant impact on pulmonary embolism by single mutation of MTHFR (27). Another recent study in 2020 revealed that there was no significant difference in C677T MTHFR gene with venous thromboembolism (% of mutational in patients group was 57% versus 48.2% in control group) (28).…”