Abstract
The association between heritability of venous thromboembolism (VTE) and thrombophilia
was first reported clinically in 1956, later followed by the first description of
a congenital cause of hypercoagulability—antithrombin deficiency—in 1965. Since then,
our knowledge of hereditary causes of hypercoagulability, which may predispose carriers
to VTE has improved greatly. Novel genetic defects responsible for severe thrombophilia
have been recently identified and we have learned that a wide range of interactions
between thrombophilia and other genetic and acquired risk factors are important determinants
of the overall individual risk of developing VTE. Furthermore, therapeutic strategies
in thrombophilic patients have benefited significantly from the introduction of direct
oral anticoagulants. The present review is an overview of the current knowledge on
the mechanisms underlying inherited thrombophilia, with a particular focus on the
latest achievements in anticoagulation protocols and prevention strategies for thrombosis
in carriers of this prothrombotic condition.
Keywords
thrombophilia - hypercoagulability - venous thrombosis - heparin - direct oral anticoagulants
