Abstract:

Deficiency of protein C (PC), protein S (PS), antithrombin III (AT III), and homozygosity or combined heterozygosity for Factor V Leiden (FVL) and Factor II (FII) 20210A mutation represent severe hereditary thrombophilia (SHT) and are associated with a higher risk of early-onset venous thromboembolism (VTE). In literature, few papers have described the efficacy and safety of therapy with direct oral anticoagulants (DOACs) in VTE occurring in patients with SHT. In our setting, we identified 8 patients who have suffered from early-onset VTE and underwent therapy with DOACs (6 rivaroxaban, 2 apixaban). Among them, 2 AT III deficiency, 2 PC deficiency, 3 PS deficiency, 1 combined heterozygosity for FVL, and FII 20210A were detected. During the follow-up, neither recurrences of VTE nor hemorrhagic episodes were observed. This report describes the efficacy and safety of therapy with anti-Xa in the treatment and secondary prophylaxis of VTE in patients with SHT.

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