OBJECTIVES to evaluate direct oral anticoagulants (DOACs) in patients with hereditary thrombophilia and deep venous thrombosis (DVT). METHODS This is a retrospective observational study. RESULTS In total, 45 patients were treated between 01/2012 and 12/2022 (mean follow-up: 1.5 +/- 0.3 years). The most frequent thrombophilias were heterozygous V Leiden (20%), heterozygous MTHFR C677T (37.8%), heterozygous MTHFR A1298C (24.4%), and hyperhomocysteinemia (26.7%). The patients received rivaroxaban (n = 19), apixaban (n = 15), and dabigatran (n = 11). Three cases presented symptoms' recurrence without evidence of thrombosis' recurrence (two under rivaroxaban and one under apixaban; p > .05). These patients improved under parenteral anticoagulation and were further treated with dabigatran. No other event or major bleeding occurred during the follow-up. The presence of more than two factors was associated with acute recurrence of symptoms (OR = 25.9; 95% CI [1.454-461.262]; p = .026). CONCLUSIONS DOACs seem to be safe and efficient for patients with hereditary thrombophilia and DVT. The presence of more than two thrombophilia factors is associated with a higher risk for symptom recurrence. Although statistically non-significant, symptoms' recurrence was also observed more frequently among patients under anti-Xa inhibitors than antithrombin inhibitors. This should be verified in larger comparative studies.

中文翻译：

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直接口服抗凝剂治疗遗传性血栓形成倾向患者深静脉血栓的队列研究。

目的评估直接口服抗凝剂（DOAC）对遗传性血栓形成倾向和深静脉血栓（DVT）患者的影响。方法 这是一项回顾性观察研究。结果 2012 年 1 月至 2022 年 12 月期间，总共有 45 名患者接受了治疗（平均随访时间：1.5 +/- 0.3 年）。最常见的血栓形成倾向是杂合子 V Leiden (20%)、杂合子 MTHFR C677T (37.8%)、杂合子 MTHFR A1298C (24.4%) 和高同型半胱氨酸血症 (26.7%)。患者接受利伐沙班 (n = 19)、阿哌沙班 (n = 15) 和达比加群 (n = 11) 治疗。3 例患者出现症状复发，但没有血栓复发的证据（2 例使用利伐沙班，1 例使用阿哌沙班；p > .05）。这些患者在肠外抗凝治疗下病情有所改善，并接受达比加群进一步治疗。随访期间未发生其他事件或大出血。两个以上因素的存在与症状急性复发相关（OR = 25.9；95% CI [1.454-461.262]；p = .026）。结论 DOAC 对于遗传性血栓形成倾向和 DVT 患者似乎是安全有效的。两种以上血栓形成倾向因素的存在与症状复发的较高风险相关。虽然在统计学上不显着，但在抗 Xa 抑制剂治疗的患者中，症状复发的频率也比抗凝血酶抑制剂治疗的患者更频繁。这应该在更大规模的比较研究中得到验证。