Treatment and secondary prophylaxis of venous thromboembolism with direct oral anticoagulants in patients with severe hereditary thrombophilia

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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References

Mannucci PM, Franchini M. Classic thrombophilic gene variants. Thromb Haemost 2015;114:885-9. DOI: https://doi.org/10.1160/TH15-02-0141

Franchini M, Veneri D, Salvagno GL, et al. Inherited thrombophilia. Crit Rev Clin Lab Sci 2006;43:249-90. DOI: https://doi.org/10.1080/10408360600552678

Agnelli G, Buller HR, Cohen A, et al. Oral apixaban for the treatment of acute venous thromboembolism. N Engl J Med 2013;369:799-808. DOI: https://doi.org/10.1056/NEJMoa1302507

Einstein Investigators; Bauersachs R, Berkowitz SD, et al. Oral rivaroxaban for symptomatic venous thromboembolism. N Engl J Med 2010;363:2499-510. DOI: https://doi.org/10.1056/NEJMoa1007903

van Es N, Coppens M, Schulman S, et al. Direct oral anticoagulants compared with vitamin K antagonists for acute venous thromboembolism: evidence from phase 3 trials. Blood 2014;124:1968-75. DOI: https://doi.org/10.1182/blood-2014-04-571232

Undas A, Goralczyk T. Non-vitamin K antagonist oral anticoagulants in patients with severe inherited thrombophilia: a series of 33 patients. Blood Coagul Fibrinol 2017;28:438-42. DOI: https://doi.org/10.1097/MBC.0000000000000613

Schulman S, Eriksson H, Goldhaber S, et al. Influence of thrombophilia on the efficacy of dabigatran versus warfarin for the extended treatment of acute venous thromboembolism in RE-MEDY™. Blood 2014;124:A1544. DOI: https://doi.org/10.1182/blood.V124.21.1544.1544

Alameddinea R, Nassabeina R, Le Galb G, et al. Diagnosis and management of congenital thrombophilia in the era of direct oral anticoagulants. Thromb Res 2020;185:72-7. DOI: https://doi.org/10.1016/j.thromres.2019.11.008

Wypasek E, Potaczek DP, Alhenc-Gelas M, Undas A. PROS1 mutations associated with protein S deficiency in Polish patients with residual vein obstruction on rivaroxaban therapy. Thromb Res 2014;134:199-201. DOI: https://doi.org/10.1016/j.thromres.2014.01.023

Boey JP, Jolley A, Nicholis C, et al. Novel protein C gene mutation in a compound heterozygote resulting in cathastrophic thrombosis in early adulthood: diagnosis and long-term treatment with subcutaneous protein C concentrate. Br J Haematol 2016;172:811-3. DOI: https://doi.org/10.1111/bjh.13538

Hermans C, Eeckhoudt S, Lambert C. Dabigatran etexilate (Pradaxa(R)) for preventing warfarin-induced skin necrosis in a patient with severe protein C deficiency. Thromb Haemost 2012;107:1189-91. DOI: https://doi.org/10.1160/TH11-11-0788

Published
2021-03-18
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Brief Reports
Keywords:
Venous thromboembolism, hereditary thrombophilia, direct oral anticoagulants.
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How to Cite
Madonna, P., Guida, A., Coppola, M. G., Tirelli, P., & Grasso, E. (2021). Treatment and secondary prophylaxis of venous thromboembolism with direct oral anticoagulants in patients with severe hereditary thrombophilia. Italian Journal of Medicine, 15(1). https://doi.org/10.4081/itjm.2021.1351