Vol 4, No 1 (2013)
Review paper
Published online: 2013-04-10

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Hereditary thrombophilia and venous thromboembolism

Krystyna Zawilska
Hematologia 2013;4(1):35-42.

Abstract

Hereditary thrombophilia can be identifi ed in about 8% of Polish population and in approximately half of patients presenting with venous thromboembolism (VTE). Defi ciency of antithrombin, protein C and protein S increases the risk of a fi rst VTE by 4–10-fold but is rare (< 0.5% of population), whereas factor V Leiden and the prothrombin G20210A gene increase this risk by 2–5-fold and are common (about 5% of population). There are no randomized trials that have compared testing for thrombophilia with no testing. Observational studies indicate that anticoagulants are equally effective in patients with and without thrombophilia, and that patients who have had VTE and have thrombophilia are at most at slightly increased risk of recurrence. Therefore, routine thrombophilia testing of patients with VTE is not indicated. Careful counseling with knowledge of absolute risks helps patients in making an informed decision in which their own preferences should be taken into account. Thrombophilia testing may be useful in asymptomatic women who intend to be pregnant in families with antithrombin, protein C, and protein S defi ciency or homozygosity
for factor V Leiden or prothrombin G20210A gene, as well as to patients who have had unprovoked VTE and who have a fi rst-degree relative who has had VTE if it is planned to stop anticoagulation
treatment.

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Hematology in Clinical Practice