Evaluation of patients undergoing thrombophilia research

In our study, we aimed to reveal the diagnostic tests used in the investigation of the etiology of thrombophilia, the findings obtained, the rates of explaining the etiology of the test results, and the contribution of diagnostic tests to the treatment and treatment duration of patients. Between 01.01.2019 and 31.12.2020, 275 patients whose etiology of thrombophilia was investigated in the outpatient clinics and wards of Eskişehir Osmangazi University Faculty of Medicine, Department of Internal Medicine were retrospectively reviewed. In 68% of the patients included in the study, no cause could be identified to explain the etiology, while in 22%, the etiology of thrombophilia was thought to be primarily related to hereditary causes. It was observed that MTHFR, PAI-1, FXIII and FVR gene mutations were commonly requested but not accepted as etiologic factors. Among pregnancy complications, thrombophilia was most commonly investigated due to pregnancy loss (95%) and hereditary causes were blamed for the etiology in 21% of patients in whom genetic mutation analysis was performed. Although FVL homozygous and heterozygous mutations ranked first in the etiology in these patients, the demonstration of these causes did not affect the decision of anticoagulant treatment in pregnancy. In the general study population, FVL gene mutation, protein C and S deficiency, and lupus anticoagulant positivity statistically significantly affected the anticoagulation decision. Ordering some genetic mutations, which are not considered significant in the etiology even if they are positive, in a package leads to unnecessary tests, and performing tests that do not affect the decision and duration of anticoagulation leads to unnecessary expenditure of resources. It would be an appropriate approach to make the follow-up and treatment plans of patients in accordance with the guidelines and individualized on a patient basis. Key Words: Thrombophilia, aetiology, pregnancy loss, inherited, mutation, treatment