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Related Experiment Videos

Thrombophilia.

M V Huisman1, F Rosendaal

  • 1Department of General Internal Medicine and Hematology & Clinical Epidemiology, Leiden University Medical Center, The Netherlands. mvhuisman@aig.azl.nl

Current Opinion in Hematology
|September 1, 1999
PubMed
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Thrombophilia involves multiple genetic and acquired factors. The 20210 A prothrombin mutation and Factor V Leiden mutation are not major risks for heart attack or stroke alone, and MTHFR gene variants do not increase venous thrombosis risk.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Hematology

Background:

  • Thrombophilia is a complex condition influenced by both genetic and acquired factors.
  • Genetic mutations, such as Factor V Leiden and the 20210 A prothrombin mutation, are implicated in thrombotic events.
  • The role of specific genetic factors, like MTHFR gene variants, in venous thrombosis requires further clarification.

Purpose of the Study:

  • To investigate the clinical characteristics of patients with the 20210 A prothrombin mutation.
  • To evaluate the independent and combined risk of Factor V Leiden and 20210 A prothrombin mutations for myocardial infarction and stroke.
  • To determine if homozygous MTHFR gene mutations are a risk factor for venous thrombosis.

Main Methods:

  • Comparative analysis of patient characteristics.

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  • Assessment of thrombotic risk in conjunction with classical risk factors (diabetes, hypertension, smoking).
  • Evaluation of the association between MTHFR gene variants and venous thrombosis.

    • Main Results:

    • Patients with the 20210 A prothrombin mutation exhibit similar traits to those with Factor V Leiden mutation.
    • Neither mutation significantly increases the risk of myocardial infarction or stroke without coexisting risk factors.
    • Homozygous MTHFR gene mutations, despite causing elevated homocysteine, do not appear to be a genetic risk factor for venous thrombosis.

    Conclusions:

    • The 20210 A prothrombin mutation shares clinical similarities with the Factor V Leiden mutation.
    • Thrombophilia risk is multifactorial, requiring consideration of combined genetic and acquired factors.
    • Specific genetic variants like MTHFR may not confer an independent risk for venous thrombosis.