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Applicability of the results of thrombophilia studies in clinical practice

Published:February 24, 2017DOI:https://doi.org/10.1016/j.ejim.2017.02.022
      The factor V G1691A (factor V Leiden, FVL) and factor II G20210A gain-of-function mutations are the most frequent forms of inherited thrombophilia [
      • Kujovich J.L.
      Factor V Leiden thrombophilia.
      ,
      • Souto J.C.
      • Coll I.
      • Llobet D.
      • del Río E.
      • Oliver A.
      • Mateo J.
      • et al.
      The prothrombin 20210A allele is the most prevalent genetic risk factor for venous thromboembolism in the Spanish population.
      ]. However, considering their prevalence in the healthy Caucasian population (3–10% depending on the region), the increase in thromboembolic risk is merely 3–5 times that of non-carriers and the large majority of carriers will not suffer any thromboembolic event [
      • Kujovich J.L.
      Factor V Leiden thrombophilia.
      ,
      • Jacobsen A.F.
      • Dahm A.
      • Bergrem A.
      • Jacobsen E.M.
      • Sandset P.M.
      Risk of venous thrombosis in pregnancy among carriers of the factor V Leiden and the prothrombin gene G20210A polymorphisms.
      ]. Therefore, screening for the presence of FVL and G20210A is controversial, particularly in patients without a strong personal or familial history of thrombosis and those in whom the results would not have therapeutic implications.

      Keywords

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