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Introduction Thrombophilia (Thrombo-philia: favoring thrombosis) is a term used to define the conditions creating a tendency toward thrombosis. Its pathogenesis is multi-factorial and includes acquired and genetic factors. [ 1 , 2 , 3 ] Factor V Leiden (FVL) is the most frequently observed genetic risk factor, and its frequency varies among societies and ethnicities. [ 4 , 5 , 6 ] The frequency of FVL mutation in the Turkish population has been reported to be between 7.9% and 10.9%. [ 1 , 7 ] The FVL mutation carrier ratio has been determined as 7.9% in a

the MTHFR 677C/T polymorphisms and susceptibility to polycystic ovary syndrome: a meta-analysis. Eur J Obstet Gynecol Reprod Biol. 2014;175:8-14. 10. Orio F Jr, Palomba S, Cascella T, Tauchmanova L, Nardo LG, Labella D, et al. Is plasminogen activator inhibitor-1 a cardiovascular risk factor in young women with polycystic ovary syndrome? Reprod Biomed Online. 2004;9(5):505-10. 11. Glueck CJ, Wanga P, Bornovali S, Goldenberg N, Sieve L. Polycystic ovary syndrome, the G1691A factor V Leiden mutation, and plasminogen activator inhibitor activity: associations with

. 2009;90(5):583-90. DOI: 10.1007/s12185-009-0447-6. 4. Jadaon MM. Epidemiology of activated protein C resistance and Factor V Leiden mutation in the Mediterranean Region. Mediterr. J. Hematol. Infect. Dis. 2011;3:e2011037. DOI: 10.4084/mjhid.2011.037 DOI: 10.4084/mjhid.2011.054. 5. Jadaon MM. Epidemiology of Prothrombin G20210A Mutation in the Mediterranean Region. Mediterr. J. Hematol. Infect. Dis. 2011;3(1):e2011054. DOI: 10.4084/mjhid.2011.037 DOI: 10.4084/mjhid.2011.054. 6. Prandoni P. Links between arterial and venous disease. J. Intern. Med. 2007

., Streiff M. et al. - Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis. 2016;41:154–164. 5. Campello E., Spiezia L., Simioni P. - Diagnosis and management of factor V Leiden. Expert Review of Hematology. 2016;9:1139-1149. 6. Simone B., De Stefano V., Leoncini E., Zacho J., Martinelli I., Emmerich J. et al. - Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetetrahydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21

References 1. Štvrtinová V, Labaš P. Venózny trombomembolizmus - definícia, princípy a metódy prevencie. In: Štvrtinová V, editor. Venózny tromboembolizmus: prevencia, diagnostika, liečba. 2.revised ed. Bratislava: Herba; 2009. p. 15-26. 2. Kujovich JL. Factor V Leiden thrombophilia. Genet Med 2011; 13: 1-16. DOI: 10.1097/GIM.0b013e3181faa0f2 3. Arsov T, Miladinova D, Spiroski M. Factor V Leiden Is Associated with Higher Risk of Deep Venous Thrombosis of Large Blood Vessels. Croat Med J 2006; 47 (3): 433-439. 4. Deitcher SR, Rodgers GM. Thrombosis and

risk [ 2 ]. The most common identified mutations interfering with VTE are: 1691 (G>A) factor V Leiden (FVL), 20210 (G>A) prothrombin (PT), deficiency of protein C, protein S and antithrombin III. Blood coagulation factor V is coded by a gene located on the long arm of chromosome 1 (1q23) and consists of 25 exons and 24 introns [ 3 ]. Transition in exon 10 of gene F5 causes a substitution (R506Q) known as factor V Leiden that has been recognized as the most prevalent genetic risk factor for VTE. Heterozygotes and homozygotes of the 1691 mutation are associated with a

References Tapson VF. Acute pulmonary embolism. N Engl J Med. 2008; 358(10): 1037-1052. Rosendaal FR. Venous thrombosis: the role of genes, environment, and behavior. Hematol Am Soc Hematol Educ Program. 2005:1-12. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood 1995; 85(6): 1504-1508. Zöller B, García de Frutos P, Hillarp A, Dahlbäck B. Thrombophilia as a multigenic disease. Haematologica. 1999; 84(1):59-70. Djordjevic V, Rakicevic L, Gagic M

thrombophilia. Thromb J. 2006;4(15):1-17. 21. Bertina RM. Factor V Leiden and other coagulation risk factor mutations affecting thrombotic risk. Clin Chem. 1997;43(9):1678-83. 22. Zoeller B, Andreas H, García de Frutos P, Dahlback B. Thrombophilia as a multigenic disease. Haematologica. 1999;84(1):59-70. 23. Hoerl HD, Tabares A, Kottke-Marchant K. The diagnosis and clinical manifestations of activated protein C resistance: a case report and review of the literature. Vasc Med. 1996. 1(4):275-80. 24. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995

Molecular Sciences, 2015, 16(12): 28418–28428 17. Kovacheva K., Ivanov P., Konova E., Simeonova M., Komsa-Penkova R. Genetic thrombophilic defects (Factor V Leiden, prothrombin G20210A, MTHFR C677T) in women with recurrent fetal loss, Akush Ginekol (Sofiia), 2007;46(7):10-6. 18. Tan J.Y. Thrombophilia in pregnancy. Ann Acad Med Singapore. 2002 May;31(3):328-34. 19. Cardona H.1., Castañeda S.A., Cardona Maya W., Alvarez L., Gómez J., Gómez J., Torres J., Tobón L., Bedoya G., Cadavid A.P. Lack of Association between Recurrent Pregnancy Loss and Inherited Thrombophilia in a

surgery at ages 41 years and 49 years, respectively, arterial hypertension since age 46 years, heterozygous Factor-V Leiden (FVL) mutation detected at age 46 years, incipient, symmetric, axonal poly-neuropathy on the lower limbs detected upon nerve conduction studies at age 47 years, cholecystolithiasis first detected at age 47 years, multiple ovarial cysts bilaterally first detected at age 51 years, and vitamin-D deficiency since age 52 years. She was smoking cigarettes. An electrocardiogram (ECG) at age 47 years was normal. Figure 1 Course of blood values over 20