Screening for hereditary thrombophilia is recommended for venous thrombosis, but there is conflicting information about the causal relation with arterial thrombosis. In this study, in order to clarify these conflicting results and recommendations, it was aimed to determine whether there is a relation between arterial thrombosis and hereditary thrombophilia tests, to determine whether the treatment plan changes according to the test results of patients with hereditary thrombophilia panel, and t

In this single-centre, non-intervention, retrospective cohort study, 200 patients over the age of 18 who were performed hereditary thrombophilia tests by various clinics between 12/02/2019 and 01/07/2022 were included. The patients had no history of disease predisposing to thrombosis, no rheumatological disease, negative antiphospholipid antibodies, and arterial thrombosis. As a control group, 50 patients without arterial and venous thrombosis were included.

When the patient group with arterial thrombosis was compared with the control group, no difference was found in the risk of thrombosis in terms of factor V Leiden, prothrombin, Factor XIII, MTHFR 677, MTHFR 1298, PAI-1 gene mutation (p=0.084, p=0.82, p=1, p=0.65, p=0.064, p=1, respectively). In our study, no significant difference was found in the increased risk of thrombosis in the detection of thrombophilic gene tests in arterial thrombosis compared with the control group.

In our study, thrombophilia gene panel screening was not considered necessary in patients with arterial thrombosis, and it was observed that factor V Leiden, prothrombin, Factor XIII, MTHFR 677, MTHFR 1298, PAI-1 gene mutations in the hereditary thrombophilia panel did not lead to an increased risk of arterial thrombosis. Hereditary thrombophilia testing is not recommended in patients with arterial thrombosis according to current guidelines.