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[Coagulation factor mutations and thrombosis].

Martine Aiach1, Martine Alhenc-Gelas, Delphine Borgel

  • 1Service d'Hématologie Biologique, Hôpital Européen Georges Pompidou, 20, Rue Leblanc, 75908 Paris Cedex 15, France. martine.aiach@egp.aphp.fr

Medecine Sciences : M/S
|November 15, 2006
PubMed
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Inherited thrombophilia, including antithrombin (AT), protein C (PC), and protein S (PS) deficiencies, increases venous thromboembolism (VTE) risk. Common mutations like Factor V Leiden and F2 G20210A also contribute, highlighting gene-gene and gene-environment interactions in VTE development.

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Context:

  • The coagulation system maintains hemostasis through a balance of procoagulant and anticoagulant factors.
  • Genetic variations can disrupt this balance, leading to thrombophilia and an increased risk of venous thromboembolism (VTE).
  • Hereditary thrombophilia was initially viewed as rare, monogenic disorders with incomplete penetrance.

Purpose:

  • To review the genetic underpinnings of hereditary thrombophilia.
  • To discuss the historical discovery and evolving understanding of inherited thrombophilia.
  • To explore the impact of common genetic mutations and gene-environment interactions on VTE risk.

Summary:

  • Inherited deficiencies in antithrombin (AT), protein C (PC), and protein S (PS) are recognized causes of thrombophilia.

Related Experiment Videos

  • The discovery of Factor V Leiden and F2 G20210A mutations shifted the paradigm, revealing common genetic risk factors with founder effects in European populations.
  • These mutations, along with multiple genetic and acquired risk factors (e.g., oral contraceptives), synergistically increase VTE risk.

    • Impact:

    • Advances understanding of the genetic basis of VTE.
    • Highlights the importance of genetic screening for thrombophilia.
    • Informs risk stratification and personalized prevention strategies for venous thromboembolism.