Herediter Trombofili Zemininde Gelişen Tromboz Vakalarının Klinik Değerlendirilmesi

Abstract

Karaca U. Clinical Evaluation of Thrombosis Cases Developing on the Background of Hereditary Thrombophilia. Hacettepe University Faculty of Medicine, Internal Diseases Specialization Thesis. ANKARA, 2021. The aim of our study is to define the possible risk factors in patients followed up in our hospital with the diagnosis of venous thrombosis and thromboembolism developing on a hereditary basis, to examine the mortality rates according to the areas of involvement in the body, and to discuss the laboratory findings obtained by considering the current literature. It was thought that the results obtained would contribute to the detection of patients with hereditary risk factors in our clinic and to the planning of the prevention, diagnosis and treatment of venous thromboembolism cases. Our study is a descriptive, single-center, non-intervention, retrospective cohort study aimed at the clinical evaluation of thrombosis cases developing on the basis of hereditary thrombophilia. Patients who were admitted to Hacettepe University Faculty of Medicine Hospital between 2015-2020, diagnosed with acute venous thrombosis or embolism, proven by radiological methods and found to be positive in any of the thrombophilia tests were included in our study. As thrombophilia tests, protein C, protein S and antithrombin deficiency, APC(activated protein C) resistance, factor V leiden, prothrombin G20210A, MTHFR(C677T), MTHFR (A1298C), PAI mutations were examined. Demographic characteristics of the patients, comorbid diseases, secondary thrombosis risk factors were evaluated in all patients. Retrospectively collected data were analyzed with appropriate statistical methods. The mean age of the patients included in the study was found to be 50±17 years, and 57.3% of the patients were female. The most common accompanying comorbidities were hypertension with 27.5%, coronary artery disease with 19.4%, cerebrovascular accident with 15.4% and diabetes mellitus with 15.1%. Among the secondary risk factors, the most common accompanying factors were smoking with

vii

38.8%, obesity with 34.8%, immobility with 26.6% and infections with 26.1%. The most common localizations of thrombosis were lower extremity deep vein thrombosis with 51.5% and pulmonary thromboembolism with 40.3%. When the laboratory data of the patients were examined; The rate of low protein C activity was 33%, the rate of low protein S activity was 49%, and the rate of low antithrombin activity was 19%. When genetic analyzes were examined, it was seen that the most common mutation in the cohort was the PAI mutation, which was detected in 224 cases. Eighty (35.7%) of the patients with PAI gene mutation were homozygous and 144 (64.3%) were heterozygous. It was determined that there were 102 patients with factor V leiden mutations, 22 (21.6%) of the patients were homozygous and 80 (78.4%) were heterozygous. In conclusion, in our study, possible hereditary and secondary risk factors were identified in patients followed up with the diagnosis of venous thrombosis and thromboembolism in our hospital. The most common comorbidities and secondary risk factors were determined. Smoking, obesity and infections were found to be important risk factors for the development of venous thromboembolism. In the light of these data, it was thought that the risk of venous thromboembolism should be considered for every hospitalized patient, hereditary factors should be kept in mind in recurrent and atypical localized thromboembolism, and it was thought that examining the risk factors of the patients would be beneficial in terms of treatment planning and preventive measures.