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Related Experiment Videos

Inherited thrombophilia.

Massimo Franchini1, Dino Veneri, Gian Luca Salvagno

  • 1Servizio di Immunoematologia e Trasfusione, Azienda Ospedaliera di Verona, Verona, Italy. mfranchini@univr.it

Critical Reviews in Clinical Laboratory Sciences
|April 1, 2006
PubMed
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Inherited thrombophilia, a genetic predisposition to blood clots, is identified in 60-70% of patients. This review covers inherited prothrombotic risk factors, their analysis, and synergistic effects with acquired factors.

Area of Science:

  • Genetics
  • Hematology
  • Internal Medicine

Background:

  • Inherited thrombophilia is a genetic predisposition to thromboembolic complications.
  • Since 1993, several inherited prothrombotic risk factors have been identified.
  • Approximately 60-70% of patients with thromboembolic complications have an identifiable inherited predisposition.

Purpose of the Study:

  • To review the main inherited prothrombotic risk factors.
  • To analyze these factors from epidemiological, laboratory, clinical, and therapeutic perspectives.
  • To discuss the interplay between genetic and acquired risk factors.

Main Methods:

  • Literature review of inherited thrombophilia.
  • Analysis of epidemiological data.

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  • Evaluation of laboratory, clinical, and therapeutic aspects of prothrombotic risk factors.

    • Main Results:

    • Identified inherited risk factors include defects in coagulation inhibitors, altered coagulation factor levels/function, fibrinolytic defects, platelet dysfunction, and hyperhomocysteinemia.
    • Epidemiological, laboratory, clinical, and therapeutic data for each factor are presented.
    • Synergistic effects between genetic and acquired risk factors are discussed, particularly in pregnancy and childhood.

    Conclusions:

    • A significant proportion of thromboembolic events are linked to inherited thrombophilia.
    • Understanding these genetic factors is crucial for risk assessment and management.
    • Further research into the interaction of genetic and acquired factors is warranted.