Identification of thromboembolic genetic risk factors in young athletes and the development individual-specific prevention of thrombosis

    Authors

    • — GenePointPlus Hungary Ltd., Budapest, Hungary —
    • Eva Kerekes — GenePointPlus Hungary Ltd., Budapest, Hungary
    • Kinga Shenker-Horvath — GenePointPlus Hungary Ltd., Budapest, Hungary
    • Nora Varga — GenePointPlus Hungary Ltd., Budapest, Hungary
    • Akos Koller — Institute of Natural Sciences, University of Physical Education, Budapest, Hungary
    • Zsolt B. Nagy — GenePointPlus Hungary Ltd., Budapest, Hungary

    Abstract

    The blood clotting system is a very complex, multifactorial system that is controlled by several mechanisms. The role of physiological coagulation – in addition to vasomotor activity - is to avoid the blood loss and prevent prevent the entrance of different pathogens pathogens into the organism. If, for any reason, the system is disturbed, blood clots can be formed in the blood vessels, at inappropriate place and time, which can cause serious problems in the circulation and thus tissue blood supply. From the factors, which can result in pathological blood clotting, the inherited mutations represent significant predisposition for thrombosis. Thus early detection of these factors could be an important first step to design patient-specific prevention of thrombosis and its consequences. Although, predisposition for thromboembolic diseases affects all humans, it is likely that athletes are particularly having higher risk factor for thrombosis, due to the various traumatic exposures during competition. For these reasons, it is utmost important to identify in young ages, the genetic predisposition for thrombosis, especially in young athletes, which can help the development of personal prevention (sport selection, dietary modulation, etc.) of thrombotic diseases, including changing sport types and/or stop competitive sport. (1-3)

    Keywords

    thromboembolism, genetic consultation, genetic predisposition, sport-specific diet consultation

    DOI

    https://doi.org/10.15836/ccar.2015.245

    Literature

    1. Clouse LH, Comp PC. The regulation of hemostasis: the protein C system. N Engl J Med. 1986;314(20):1298–304. https://doi.org/10.1056/NEJM198605153142006
    2. Mannucci PM, Franchini M. Classic thrombophilic gene variants. Thromb Haemost. 2015;114(4): Epub ahead of print. https://doi.org/10.1160/TH15-02-0141
    3. Magyar Angiológiai és Érsebészeti Társaság: Érbetegségek gyermekkorban-irányelvek. 2009.
    Cardiologia Croatica
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    Identification of thromboembolic genetic risk factors in young athletes and the development individual-specific prevention of thrombosis

    Abstract
    Issue9-10
    Published
    Pages245
    PDF via DOIhttps://doi.org/10.15836/ccar.2015.245
    thromboembolism
    genetic consultation
    genetic predisposition
    sport-specific diet consultation

    Authors

    Andrea Rzepiel*ORCIDGenePointPlus Hungary Ltd., Budapest, Hungary
    Eva KerekesGenePointPlus Hungary Ltd., Budapest, Hungary
    Kinga Shenker-HorvathGenePointPlus Hungary Ltd., Budapest, Hungary
    Nora VargaGenePointPlus Hungary Ltd., Budapest, Hungary
    Akos KollerInstitute of Natural Sciences, University of Physical Education, Budapest, Hungary
    Zsolt B. NagyGenePointPlus Hungary Ltd., Budapest, Hungary

    *Correspondence email: rzepielandrea@gmail.com

    Abstract

    The blood clotting system is a very complex, multifactorial system that is controlled by several mechanisms. The role of physiological coagulation – in addition to vasomotor activity - is to avoid the blood loss and prevent prevent the entrance of different pathogens pathogens into the organism. If, for any reason, the system is disturbed, blood clots can be formed in the blood vessels, at inappropriate place and time, which can cause serious problems in the circulation and thus tissue blood supply. From the factors, which can result in pathological blood clotting, the inherited mutations represent significant predisposition for thrombosis. Thus early detection of these factors could be an important first step to design patient-specific prevention of thrombosis and its consequences. Although, predisposition for thromboembolic diseases affects all humans, it is likely that athletes are particularly having higher risk factor for thrombosis, due to the various traumatic exposures during competition. For these reasons, it is utmost important to identify in young ages, the genetic predisposition for thrombosis, especially in young athletes, which can help the development of personal prevention (sport selection, dietary modulation, etc.) of thrombotic diseases, including changing sport types and/or stop competitive sport. (1-3)

    Literature

    1. 1.
      Clouse LH, Comp PC. The regulation of hemostasis: the protein C system. N Engl J Med. 1986;314(20):1298–304.DOI
    2. 2.
      Mannucci PM, Franchini M. Classic thrombophilic gene variants. Thromb Haemost. 2015;114(4): Epub ahead of print.DOI
    3. 3.
      Magyar Angiológiai és Érsebészeti Társaság: Érbetegségek gyermekkorban-irányelvek. 2009.