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[Inherited thrombophilia].

Massimo Franchini1, Dino Veneri

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

Recenti Progressi in Medicina
|April 23, 2005
PubMed
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Inherited thrombophilia is a genetic risk for blood clots. This review covers key inherited prothrombotic factors and their interaction with acquired risks, especially during pregnancy and in cardiovascular disease.

Area of Science:

  • Hematology
  • Genetics
  • Epidemiology

Context:

  • Inherited thrombophilia represents a significant genetic predisposition to thromboembolic events.
  • Understanding these inherited factors is crucial for risk assessment and management.

Purpose:

  • To review the epidemiology, clinical presentation, and diagnostic approaches for major inherited prothrombotic risk factors.
  • To explore the interplay between inherited and acquired risk factors in specific clinical scenarios.

Summary:

  • Key inherited thrombophilias include deficiencies in antithrombin, protein C, and protein S, Factor V Leiden mutation, hyperhomocysteinemia, prothrombin G20210A variant, dysfibrinogenemia, and elevated Factor VIII.
  • The review examines these factors from epidemiological, clinical, and diagnostic perspectives.

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  • Synergistic effects of genetic and acquired risks, particularly in pregnancy and cardiovascular disease, are discussed.

    • Impact:

    • Provides a comprehensive overview of inherited thrombophilia for clinicians and researchers.
    • Highlights the importance of considering genetic predisposition in thromboembolic risk stratification.
    • Informs clinical practice regarding the management of patients with combined genetic and acquired risk factors.