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Risk factors for thrombophilia in young adults presenting with thrombosis

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Abstract

The increased risk for thrombosis is known as hypercoagulability or thrombophilia. Here, we investigated risk factors for thrombophilia which were screened in young adult patients presenting with thrombotic events or with recurrent abortions with unknown etiology. A total of 115 patients aged between 16 and 50 years who were found to harbor thrombophilia were retrospectively evaluated. The laboratory investigations performed for the assessment of thrombophilia included protein C, protein S, antithrombin III deficiencies, activated protein C resistance, factor V Leiden (FVL), prothrombin 20210A (PT 20210) and methylenetetrahydrofolate reductase (MTHFR) gene mutations, factor VIII elevation, lupus anticoagulant and antiphospholipid antibodies (APA). In 66% of the cases a single thrombophilic defect was identified while some of the patients had combined thrombophilic defects. The most common thrombophilic defect was mutation in the MTHFR gene, and was followed by FVL mutation, the presence of APA and PT 20210 gene mutation, respectively. The patients were divided into two different age groups, 16–35 and 36–50 years, and arterial thrombosis was more common in the older age group. Our results indicated that some important thrombophilic defects such as gene mutations may appear in young adult patients presenting with thrombotic events.

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References

  1. Esmon CT. The regulation of natural anticoagulant pathways. Science. 1987;235:1348–52.

    Article  CAS  PubMed  Google Scholar 

  2. Deitcher SR, Rodgers GM. Thrombosis and antithrombotic therapy. In: Greer JP, Foerster J, Lukens JN, et al., editors. Wintrobe’s clinical hematology. 11th ed. Philadelphia: Lippincott Williams and Wilkins; 2004. p. 1713–28.

    Google Scholar 

  3. Rosendaal FR. Venous thrombosis, a multicausal disease. Lancet. 1999;353:1167–73.

    Article  CAS  PubMed  Google Scholar 

  4. Okumus G, Kiyan E, Arseven O, Tabak L, Diz-Kucukkaya R, Unlucerci Y, et al. Hereditary thrombophilic risk factors and venous thromboembolism in Istanbul, Turkey: the role in different clinical manifestations of venous thromboembolism. Clin Appl Thromb Hemost. 2008;14:168–73.

    Article  PubMed  Google Scholar 

  5. Kovac M, Mikovic D, Antonijevic N, Rakicevic L, Djordjevic V, Radojkovic D, et al. Leiden mutation and risk of recurrent venous thromboembolism in Serbian population. J Thromb Thrombolysis. 2008;25:284–7.

    Article  CAS  PubMed  Google Scholar 

  6. Shen MC, Lin JS, Tsay W. High prevalence of antithrombin III, protein C and protein S deficiency, but no factor V Leiden mutation in venous thrombophilic Chinese patients in Taiwan. Thromb Res. 1997;87:377–85.

    Article  CAS  PubMed  Google Scholar 

  7. Bombeli T, Basic A, Fehr J. Prevalence of hereditary thrombophilia in patients with thrombosis in different venous systems. Am J Hematol. 2002;70:126–32.

    Article  PubMed  Google Scholar 

  8. Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyjenkov V, et al. Inherited thrombophilia: part 1. Thromb Haemost. 1996;76:651–62.

    CAS  PubMed  Google Scholar 

  9. Lawson SE, Butler D, Enayat MS, Williams MD. Congenital thrombophilia and thrombosis: a study in a single centre: Arch Dis Child. 1999;81:176–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Suppiej A, Franzoi M, Gentilomo C, Battistella PA, Drigo P, Gavasso S, et al. High prevalence of inherited thrombophilia in ‘presumed peri-neonatal’ ischemic stroke. Eur J Haematol. 2008;80:71–5.

    PubMed  Google Scholar 

  11. Glueck CJ, Munjal J, Aregawi D, Agloria M, Winiarska M, Khalil Q, et al. Thrombophilia-hypofibrinolysis and atherothrombotic cardiovascular disease ≤ age 45 years. Transl Res. 2007;150:93–100.

    Article  CAS  PubMed  Google Scholar 

  12. Giannakopoulos B, Passam F, Rahgozar S, Krilis SA. Current concepts on the pathogenesis of the antiphospholipid syndrome. Blood. 2007;109:422–30.

    Article  CAS  PubMed  Google Scholar 

  13. Triplett DA. Assays for detection of antiphospholipid antibodies. Thromb Haemost. 1993;70:787–93.

    CAS  PubMed  Google Scholar 

  14. Triplett A, Barna LK, Unger GA. A hexagonal(II) phase phospholipid neutralization assay for lupus anticoagulant identification. Lupus. 1994;3:281–7.

    Article  CAS  PubMed  Google Scholar 

  15. Paschôa AF, Guillaumon AT. Impact of screening on thrombophilia for patients with venous thrombosis. Int Angiol. 2006;25:52–9.

    PubMed  Google Scholar 

  16. Almawi WY, Tamim H, Kreidy R, Timson G, Rahal E, Nabulsi M, et al. A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis. J Thromb Thrombolysis. 2005;19:189–96.

    Article  CAS  PubMed  Google Scholar 

  17. Gemmati D, Serino ML, Trivellato C, Fiorini S, Scapoli GL. C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients. Haematologica. 1999;84:824–8.

    CAS  PubMed  Google Scholar 

  18. Santoro R, Iannaccaro P, Sottilotta G. Prothrombotic gene mutations in women with recurrent abortions and intrauterine fetal death. Minerva Ginecol. 2005;57:447–50.

    CAS  PubMed  Google Scholar 

  19. Gibson CS, MacLennan AH, Rudzki Z, Hague WM, Haan EA, Sharpe P, et al. South Australian Cerebral Palsy Research Group: the prevalence of inherited thrombophilias in a Caucasian Australian population. Pathology. 2005;37:160–3.

    Article  CAS  PubMed  Google Scholar 

  20. Jarvenpaa J, Pakkila M, Savolainen ER, Perheentupa A, Jarvela I, Ryynanen M. Evaluation of factor V Leiden, prothrombin and methylenetetrahydrofolate reductase gene mutations in patients with severe pregnancy complications in northern Finland. Gynecol Obstet Invest. 2006;62:28–32.

    Article  CAS  PubMed  Google Scholar 

  21. Carod-Artal FJ, Nunes SV, Portugal D, Silva TV, Vargas AP. Ischemic stroke subtypes and thrombophilia in young and elderly Brazilian stroke patients admitted to a rehabilitation hospital. Stroke. 2005;36:2012–4.

    Article  PubMed  Google Scholar 

  22. Janssen MC, den Heijer M, Cruysberg JR, Wollersheim H, Bredie SJ. Retinal vein occlusion: a form of venous thrombosis or a complication of atherosclerosis? A meta-analysis of thrombophilic factors. Thromb Haemost. 2005;93:1021–6.

    CAS  PubMed  Google Scholar 

  23. Yurdakul AS, Cimen F, Taci Hoca N, Cakaloğlu A, Atikcan S. Recurrent pulmonary embolism secondary to hereditary thrombophilia (case report). Tuberk Toraks. 2004;52:275–9.

    PubMed  Google Scholar 

  24. Frutos Bernal MD, Fernández Hernández JA, Carrasco Prats M, Soria Cogollos T, Luján Mompeán JA, Hernández Agüera Q, et al. Portal-splenic-mesenteric venous thrombosis secondary to a mutation of the prothrombin gene. Gastroenterol Hepatol. 2005;28:329–32.

    Article  CAS  PubMed  Google Scholar 

  25. Pinto RB, Silveira TR, Bandinelli E, Röhsig L. Portal vein thrombosis in children and adolescents: the low prevalence of hereditary thrombophilic disorders. J Pediatr Surg. 2004;39:1356–61.

    Article  PubMed  Google Scholar 

  26. Boekholdt SM, Kramer MH. Arterial thrombosis and the role of thrombophilia. Semin Thromb Hemost. 2007;33:588–96.

    Article  CAS  PubMed  Google Scholar 

  27. Murin S, Marelich GP, Arroliga AC, Matthay RA. Hereditary thrombophilia and venous thromboembolism. Am J Respir Crit Care Med. 1998;158(5 Pt 1):1369–73.

    Article  CAS  PubMed  Google Scholar 

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Conflict of interest statement

The authors declare no competing financial interests.

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Authors and Affiliations

  1. Department of Hematology, Kayseri Education and Research Hospital, Kayseri, Turkey

    Osman Yokus

  2. Department of Hematology, Oncology Education and Research Hospital, Dizgi Sok. 9/6, 06120, Basinevleri, Ankara, Turkey

    Murat Albayrak & Ozlem Sahin Balcik

  3. Department of Hematology, Numune Education and Research Hospital, Ankara, Turkey

    Funda Ceran, Simten Dagdas, Mesude Yilmaz & Gulsum Ozet

Authors
  1. Osman Yokus
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  2. Murat Albayrak
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  3. Ozlem Sahin Balcik
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  4. Funda Ceran
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  5. Simten Dagdas
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  6. Mesude Yilmaz
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  7. Gulsum Ozet
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Correspondence to Ozlem Sahin Balcik.

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Yokus, O., Albayrak, M., Balcik, O.S. et al. Risk factors for thrombophilia in young adults presenting with thrombosis. Int J Hematol 90, 583–590 (2009). https://doi.org/10.1007/s12185-009-0447-6

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  • DOI: https://doi.org/10.1007/s12185-009-0447-6

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