Investigation of clinical and genetic factors in patients with deep vein thrombosis. A retrospective study
Abstract
Introduction: Generally, risk factors for deep vein thrombosis (DVT) include advanced age, surgery, fractures,
pregnancy, puerperium, use of oral contraceptives, hormone replacement therapy, cancer and genetics
associated with the hemostatic system in influencing thrombotic risk. The aim of this study was to evaluate
routine complete blood count parameters, the clinical and genetic data of patients with diagnosis of DVT in
our hospital and to contribute to the literature with our results.
Material and methods: This retrospective study included a total of 152 patients (67 males and 85 females)
diagnosed with DVT between January 2016 and September 2019. The history, clinical findings, venous doppler
ultrasonography and genetic analysis results of patients were evaluated.
Results: The study included 152 DVT patients. When the lower extremity venous doppler ultrasonography
(VDU) results were evaluated, venous insufficiency was detected in 126 patients (82.9%), 57 of whom were
male and 69 were female. Genetic results of F2 G20210A, FVL G1691A, MTHFR C677T and MTHFR A1298C
were examined. FLV gene distributions were statistically different between genders (38.8% of men; 16.5% of
women). This difference was also statistically significant (p = 0.003).
Conclusion: The hemogram parameters were found to be insufficient markers. VDU was seen to be a clinically
necessary marker in diagnosis; and genetic outcomes were important in initiating appropriate treatment in the
early period. These results also show that there are differences according to gender in determining thrombotic risk.
Keywords: thrombosisdeep vein thrombosisgeneticsfactor V Leiden
References
- Demir M, Erdemli B, Kurtoğlu M, Öngen G. Ulusal Venöz Tromboembolizm Profilaksi ve Tedavi Kılavuzu. İstanbul. Diasan Press, Cortex 2010.
- Toll D. Excluding deep vein thrombosis in primary care: validation, updating, and implementation of a diagnostic rule. Utrecht University, 2008.
- Wells PS, Anderson DR, Rodger M, et al. Evaluation of D-dimer in the diagnosis of suspected deep-vein thrombosis. N Engl J Med. 2003; 349(13): 1227–1235.
- Tick LW, Ton E, van Voorthuizen T, et al. Practical diagnostic management of patients with clinically suspected deep vein thrombosis by clinical probability test, compression ultrasonography, and D-dimer test. Am J Med. 2002; 113(8): 630–635.
- Rosendaal FR, Reitsma PH. Genetics of venous thrombosis. J Thromb Haemost. 2009; 7 Suppl 1: 301–304.
- White RH. The epidemiology of venous thromboembolism. Circulation. 2003; 107(23 Suppl 1): I4–I8.
- Spiroski I, Kedev S, Antov S, et al. Methylenetetrahydrofolate reductase (MTHFR-677 and MTHFR-1298) genotypes and haplotypes and plasma homocysteine levels in patients with occlusive artery disease and deep venous thrombosis. Acta Biochimica Polonica. 2008; 55(3): 587–594.
- Heim SW, Schectman JM, Siadaty MS, et al. D-dimer testing for deep venous thrombosis: a metaanalysis. Clin Chem. 2004; 50(7): 1136–1147.
- Zorlu A, Bektasoglu G, Guven FM, et al. Usefulness of admission red cell distribution width as a predictor of early mortality in patients with acute pulmonary embolism. Am J Cardiol. 2012 Jan 1;109(1):128-34. doi: 10.1016/j.amjcard.2011.08.015. Epub 2011 Sep 28. PMID. ; 21958741.
- Cay N, Unal O, Kartal MG, et al. Increased level of red blood cell distribution width is associated with deep venous thrombosis. Blood Coagul Fibrinolysis. 2013 ; 24(7): 727–731.
- Gulcan M, Varol E, Etli M, et al. Mean platelet volume is increased in patients with deep vein thrombosis. Clin Appl Thromb Hemost. 2012; 18(4): 427–430.
- Kopánski Z, Cienciała A, Ulatowski Z, et al. Vergleich der Thromboserate nach laparoskopischen und konventionellen Eingriffen mittels des J125-Fibrinogen-Tests [Comparison of thrombosis rate after laparoscopic and conventional interventions with the I(125) fibrinogen test]. Wien Klin Wochenschr . 1996; 108(4): 105–110.
- Öztürk H, Öztürk ŞY. Alt Extremite Venöz Doppler Ultrasonografik İnceleme Yapılan Hastaların Özellikleri. Van Tıp Dergisi. 2014; 21(4): 193–196.
- Tiryaki Ş, Eğilmez H, Işık AO, et al. Alt ekstremite derin ven trombozu tanısında renkli Doppler ultrasonografi. CÜ Tıp Fakültesi Dergisi. 2000; 22: 131–136.
- Pai N, Ghosh K, Shetty S. Cause of deep venous thrombosis and pulmonary embolism in young patients from India as compared with other ethnic groups. Blood Coagul Fibrinolysis. 2012; 23(4): 257–261.
- Guzmán N, Lanas F, Salazar LA. Influence of Amerindian mitochondrial DNA haplogroups on thrombosis susceptibility and frequency of four genetic prothrombotic variants in Southern Chilean subjects. Clin Chim Acta. 2010; 411(5-6): 444–447.
- Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med. 2001; 344(16): 1222–1231.
- Alfirevic Z, Simundic AM, Nikolac N, et al. Frequency of factor II G20210A, factor V Leiden, MTHFR C677T and PAI-1 5G/4G polymorphism in patients with venous thromboembolism: Croatian case control study. Biochemia Medica. 2010: 229–235.
- Janbabai G, Taghipour M, Sharifian R, et al. Survey of thrombophilia risk factors and markers in patients with deep vein thrombosis in Mazandaran Province, Northern Iran. Adv Biol Res. 2013; 7(4): 139–143.
- Hosseini S, Kalantar E, Hosseini MS, et al. Genetic risk factors in patients with deep venous thrombosis, a retrospective case control study on Iranian population. Thromb J. 2015; 13: 35.
- Simone B, De Stefano V, Leoncini E, et al. Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. Eur J Epidemiol. 2013; 28(8): 621–647.
- Bezemer ID, Doggen CJM, Vos HL, et al. No association between the common MTHFR 677C->T polymorphism and venous thrombosis: results from the MEGA study. Arch Intern Med. 2007; 167(5): 497–501.
- Akar N, Akar E, Akçay R, et al. Effect Of Metylenetetrahydrofolate Reductase 677 C-T, 1298 A-C, and 1317 T-C on Factor V 1691 Mutation in Turkish Deep Vein Thrombosis Patients. Thrombosis Research. 2000; 97(3): 163–167.