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Thrombophilia risk for heterozygous and homozygous gene mutations

  • 03
    Feb

    By Katherine Kozlowski, Medical Writer and Contributor to Vein News and www.VeinsVeinsVeins.com



    Intrinsic risk factors associated with first episode of venous thromboembolism (VTE).

     

    Those with a BMI greater than 30 have 2.3 times the risk for VTE compared to those with a BMI less than 30.

    Heterozygous Prothrombin gene mutations increase a person’s risk by 2.8 times over baseline risk for VTE.

    Heterozygous Factor V Leiden gene mutations increase a person’s risk by 4.2 times over baseline risk for VTE.

    Homozygous Prothrombin gene mutations increase a person’s risk by 6.7 times over baseline risk for VTE.

    Homozygous Factor V Leiden gene mutations increase a person’s risk by 11.5 times over baseline risk for VTE.

    People with an antithrombin deficiency (AT III) have 14 times increased risk over baseline for developing VTE.

     

    Homozygous mutations occur when you inherit the same gene mutation from both parents.

    Heterozygous mutations occur when you inherit the gene mutation from only one parent.

     

    Nicholson, M., Chan, N., Bhagirath, V., & Ginsberg, J. (2020). Prevention of venous thromboembolism in 2020 and beyond. Journal of Clinical Medicine9(8), 2467.



    Dr Karamanoukian's comment;  Patients with thrombophilia need numbers to truly comprehend their risk for developing venous thromboembolism.  This is a nice summary statement.