Retrospective evaluation of thrombosis attacks in hereditary thrombophilia patients

Thrombophilia are hereditary or acquired conditions that predispose to create inappropriate clots and increase the risk of venous or arterial thrombosis. The tendency to form a clot can result from genetic factors, acquired changes in the coagulation mechanism, or more commonly, the interaction between genetic and acquired factors. A total of 83 patients, who were diagnosed with Hereditary Thrombophilia between January 2018 and December 2019 in Bursa Uludağ University Faculty of Medicine, Department of Internal Diseases and Hematology Department polyclinics, between 20-70 years of age, were analyzed retrospectively. The most common reason for diagnosis in these patients was venous or arterial thrombosis (45.8%) and the most common was dvt ± pte (44.7%) in lower extremity. In the second frequency, those diagnosed with recurrent pregnancy loss or infertility with 30% were included. Patients with a history of arterial thrombosis were 18%. In 23.7% of patients, venous thrombosis attack was observed in 'atypical localization' including cerebral vein thrombosis (5.3%). 11.8% of the study group were women who had DVT during pregnancy. The most frequently diagnosed abnormalities; FVL heterozygous (68%, n: 83), PrS deficiency (30%, n: 46), PGM heterozygoty (23%, n: 83), PrC deficiency (15%, n: 46), AT-3 deficiency was 2% (n: 44). FVL heterozygous and PGM heterozygousity were observed in two patients (2%). The risk factors; male gender, median age group (43±13), obesity, smoking, pregnancy, diabetes mellitus and hypercholesterolemia were found significant in terms of risk of thrombosis. As a result; In hereditary thrombophilia, the risk of thrombosis increases in the presence of acquired risk factors and predisposing factors. It will be appropriate to act according to current guidelines for diagnosis, followup and treatment. Keywords: Hereditary thrombophilia, thrombosis, factor V leiden mutation, prothrombin (factor II) gene mutation, antithrombin deficiency, protein c deficiency, protein s deficiency