The predictive value of factor V Leiden, prothrombin G20210A and MTHFR C677T Gene mutations on the location of venous thromboembolism
Abstract
Objective: In the present study, we aimed to consider the relation between the manifestations of venous thromboembolism (VTE) and gene mutations including factor V Leiden (FVL), prothrombin G20210A and MTHFR C677T.
Methods: One hundred and forty four patients with idiopathic VTE were enrolled in this study. The data of patients were obtained from the medical records in hospital information system. The patients were grouped according to the location of VTE. In all subjects FVL, prothrombin G20210A, and MTHFR C677T were analyzed by specific polymerase chain reactions and restriction enzymes. Univariate and multivariate analysis were used to evaluate the relation between the groups and the gene mutations including factor V Leiden (FVL), prothrombin G20210A and MTHFR C677T.
Results: The mean age of patients was 41.16 ± 13.23 years and the male / female ratio was 1.18. Among the patients with VTE, 44 (30.6%) had only DVT, 41 (28.5%) had only PE, 26 (18.1%) had both DVT and PE, 23 (16%) had cerebral veins thrombosis (CVT) and 10 (6.9%) had abdominal vein thrombosis The prevalence was found to be 46.5% for FVL, 13.2% for prothrombin G20210A and 45.1% for MTHFR C677T gene mutation among patients. There was no statistically difference between the manifestations of VTE regarding the gene mutations (p>0,05).
Conclusion: The findings of this study suggest that gene mutations including factor V Leiden (FVL), prothrombin G20210A and MTHFR C677T are not sufficient to determine the location of VTE.
Key words: Venous thromboembolism; factor V Leiden; prothrombin G20210A; MTHFR C677T
References
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- Circulation 2014;129:254-257.
- Küçükkaya RD, Adıgüzel C, Tetik A, et al. Edinsel Kanama
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- Leebeek FW, Smalberg JH, Janssen HL. Prothrombotic disorders
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- Dentali F, Galli M, Gianni M, Ageno W. Inherited thrombophilic
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Year 2015,
Volume: 42 Issue: 4, 467 - 471, 08.01.2016
Abstract
References
- Cohoon KP, Heit JA. Inherited and secondary thrombophilia.
- Circulation 2014;129:254-257.
- Küçükkaya RD, Adıgüzel C, Tetik A, et al. Edinsel Kanama
- Bozuklukları ve Kalıtsal Trombofili Tanı ve Tedavi Kılavuzu. Özcan M, Atamer T, editors. Ankara: Türk Hematoloji Derneği; 2011.
- Merriman L, Greaves M. Testing for thrombophilia: an evidence-based approach. Postgrad Med J 2006;82:699-704.
- Cushman M. Epidemiology and risk factors for venous
- thrombosis. Semin Hematol 2007;44:62-69.
- Pernod G, Biron-Andreani C, Morange PE, et al. Recommendations
- on testing for thrombophilia in venous thromboembolic disease: a French consensus guideline. Journal Des Maladies Vasculaires 2009;34:156-203.
- Teker ME, Gümüşçü F, Elçi ME. Üst ekstremite derin ven
- trombozlu hastaların değerlendirilmesi. Dicle Tıp Dergisi 2015;42.
- Varga EA, Kujovich JL. Management of inherited thrombophilia:
- guide for genetics professionals. Clin Genetics 2012;81:7-17.
- Baglin T, Gray E, Greaves M, et al. Clinical guidelines for testing for heritable thrombophilia. British journal of haematology 2010;149:209-220.
- Tenna AM, Kappadath S, Stansby G. Diagnostic tests and strategies in venous thromboembolism. Phlebology 2012;27 Suppl 2:43-52.
- Martinelli I. Unusual forms of venous thrombosis and thrombophilia. Pathophysiol Haemostasis Thromb 2002;32:343-345.
- Salomon O, Steinberg DM, Zivelin A, et al. Single and combined prothrombotic factors in patients with idiopathic venous hromboembolism: prevalence and risk assessment. Arteriosclerosis, thrombosis, and vascular biology 1999;19:511-518.
- Martinelli I, Battaglioli T, Razzari C, Mannucci PM. Type and location of venous thromboembolism in patients with factor V Leiden or prothrombin G20210A and in those with no thrombophilia. J Thromb Haemostasis 2007;5:98-101.
- Manten B, Westendorp RG, Koster T, et al. Risk factor profiles in patients with different clinical manifestations of venous thromboembolism: a focus on the factor V Leiden mutation. Thromb Haemostasis 1996;76:510-513.
- Martinelli I, Sacchi E, Landi G, et al. High risk of cerebralvein
- thrombosis in carriers of a prothrombin-gene mutation and in users of oral contraceptives. The New England journal of medicine 1998;338:1793-1797.
- Rodrigues CA, Rocha LK, Morelli VM, et al. Prothrombin G20210A mutation, and not factor V Leiden mutation, is a risk factor for cerebral venous thrombosis in Brazilian patients. J Thromb Haemostasis 2004;2:1211-1212.
- Smalberg JH, Kruip MJ, Janssen HL, et al. Hypercoagulability
- and hypofibrinolysis and risk of deep vein thrombosis and splanchnic vein thrombosis: similarities and differences. Atheroscler Thromb Vasc Biol 2011;31:485-493.
- Corral J, Roldan V, Vicente V. Deep venous thrombosis or pulmonary embolism and factor V Leiden: enigma or paradox. Haematologica 2010;95:863-866.
- Al-Juburi A, Scott MA, Shah HR, Raufman JP. Heterozygosity
- for factor V Leiden and G20210A prothrombin genotypes in a patient with mesenteric vein thrombosis. Digest Dis Sci 2002;47:601-606.
- Agnelli G, Verso M. Epidemiology of cerebral vein and sinus
- thrombosis. Front Neurol Neurosci 2008;23:16-22.
- Dentali F, Crowther M, Ageno W. Thrombophilic abnormalities,
- oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis. Blood 2006;107:2766-2773.
- Ludemann P, Nabavi DG, Junker R, et al. Factor V Leiden
- mutation is a risk factor for cerebral venous thrombosis: a case-control study of 55 patients. Stroke 1998;29:2507-2510.
- Tufano A, Coppola A, Varricchione N, et al. Predisposing factors in patients with early-onset cerebral vein thrombosis. Thromb Res 2005;115:439-440.
- Leebeek FW, Smalberg JH, Janssen HL. Prothrombotic disorders
- in abdominal vein thrombosis. Netherlands J Med 2012;70:400-405.
- Dentali F, Galli M, Gianni M, Ageno W. Inherited thrombophilic
- abnormalities and risk of portal vein thrombosis. a meta-analysis. Thromb Haemostasis 2008;99:675-682.
- Amitrano L, Brancaccio V, Guardascione MA, et al. High prevalence of thrombophilic genotypes in patients with acute mesenteric vein thrombosis. Am J Gastroenterol 2001;96:146-149.
There are 39 citations in total.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Research Articles |
| Authors | |
| Publication Date | January 8, 2016 |
| Submission Date | January 8, 2016 |
| Published in Issue | Year 2015 Volume: 42 Issue: 4 |