Key result
Rivaroxaban prevents thrombotic recurrence in hereditary thrombophilia, supporting efficacy over traditional anticoagulation.
Why the study?
Genetic causes of thrombophilia beyond the most common mutations, including 4G/4G polymorphism of the PAI-1 gene, have been recently identified but their treatment remains unclear.
Does rivaroxaban prevent thrombotic recurrence in patients with hereditary thrombophilia?
Case Report (n=21)
Does rivaroxaban prevent thrombotic recurrence in patients with hereditary thrombophilia?
Rivaroxaban successfully prevented thrombotic recurrence in a patient with hereditary thrombophilia involving PAI-1 and MTHFR polymorphisms.
Hypothesis-generating for rivaroxaban in hereditary thrombophilia; randomized trials needed before any practice change.
BACKGROUND Thrombophilia is a predisposition to thrombosis. Genetic causes include antithrombin III, protein C, protein S, factor V Leiden, prothrombin 20210A allele, and MTHFR mutations. Other genetic factors causing thrombosis and pulmonary embolism have been identified in recent studies, including 4G/4G polymorphism of the PAI-1 gene. CASE REPORT A patient with a personal and family history of recurrent thrombosis and pulmonary embolism was admitted to our Internal Medicine Department. After the most common acquired risk factors for thromboembolism were ruled out, the patient and her family members underwent genetic diagnostic testing. These tests showed homozygous 4G/4G polymorphism of the PAI-1 gene in 14 subjects, homozygous 4G/4G polymorphism of the PAI-1 gene and C677T/A1298C polymorphism of the MTHFR gene in 4 subjects, and heterozygous 4G/4G polymorphism of the PAI-1 gene and C677T/A1298C polymorphism of the MTHFR gene in 3 subjects. Afterwards, we initiated the administration of Rivaroxaban, with beneficial results. CONCLUSIONS No thrombotic recurrence has been observed in the patient since 2014. This case report shows the efficacy and superiority of Rivaroxaban over traditional anticoagulants in the treatment of hereditary thrombophilia. Further studies are clearly needed before Rivaroxaban can be recommended as a standard treatment in patients with inherited thrombophilia.
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Giofrè et al. (2017) conducted a case report in Hereditary Thromboembolism (n=21). Rivaroxaban vs. traditional anticoagulants was evaluated on Thrombotic recurrence. Rivaroxaban administration prevented thrombotic recurrence in a patient with hereditary thrombophilia since 2014, suggesting efficacy over traditional anticoagulants.
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