Dan Ofir, Pikovsky Oleg, Kerman Tomer, Amar Shirly, Rabinovich Anat
The Joyce and Irving Goldman Medical School, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Clinical Haematology Department, Palmerston North Hospital, 50 Ruahine St, Palmerston North, New Zealand.
J Thromb Thrombolysis. 2025 Feb;58(2):188-198. doi: 10.1007/s11239-025-03069-3. Epub 2025 Feb 1.
Factor V Leiden (FVL) and prothrombin G20210A mutation (PGM) are the most common types of inherited thrombophilia, predisposing to increased venous thromboembolism (VTE) risk. The homozygous and compound heterozygous forms of these mutations are extremely rare. While direct oral anticoagulants (DOACs) have replaced vitamin K antagonists (VKAs) as the primary treatment for VTE, data on their use in patients with high-risk hereditary thrombophilia are limited. To compare the efficacy and safety of DOACs vs. VKA in patients with high-risk hereditary thrombophilia, including FVL and PGM. This retrospective cohort study included adults with homozygous/compound heterozygous FVL and/or PGM who experienced a thrombotic event between 2000 and 2022. The primary outcome was the incidence of recurrent thrombosis in patients with high-risk inherited thrombophilia treated with DOACs versus VKAs. The secondary outcome included a comparison of rates of bleeding complications between these groups. The types of bleeding were defined according to the ISTH criteria. Of 56 patients included 28 received DOACs and 28 received VKAs. There was no significant difference in recurrent VTE rates (1/28, 3.6% DOAC group vs. 0/28, 0% VKA group) or major bleeding (1/28, 3.6% DOAC group vs. 1/28, 3.6% VKA group). This is the largest cohort of patients with high-risk hereditary thrombophilia, providing valuable insights into DOAC use in this group. The findings suggest that DOACs may represent an effective and safe alternative to VKAs. Further research is warranted to confirm these results and optimize anticoagulant management in this challenging patient group.
凝血因子V莱顿突变（FVL）和凝血酶原G20210A突变（PGM）是遗传性易栓症最常见的类型，会增加静脉血栓栓塞（VTE）风险。这些突变的纯合子和复合杂合子形式极为罕见。虽然直接口服抗凝剂（DOACs）已取代维生素K拮抗剂（VKAs）成为VTE的主要治疗方法，但关于其在高危遗传性易栓症患者中的应用数据有限。为比较DOACs与VKA在包括FVL和PGM在内的高危遗传性易栓症患者中的疗效和安全性。这项回顾性队列研究纳入了2000年至2022年间发生血栓事件的纯合子/复合杂合子FVL和/或PGM的成年人。主要结局是接受DOACs与VKAs治疗的高危遗传性易栓症患者复发性血栓形成的发生率。次要结局包括比较这些组之间出血并发症的发生率。出血类型根据国际血栓与止血学会（ISTH）标准定义。纳入的56例患者中，28例接受DOACs治疗，28例接受VKAs治疗。复发性VTE发生率（DOAC组1/28，3.6% vs. VKA组0/28，0%）或大出血发生率（DOAC组1/28，3.6% vs. VKA组1/28，3.6%）无显著差异。这是最大的高危遗传性易栓症患者队列，为该组患者使用DOACs提供了有价值的见解。研究结果表明，DOACs可能是VKAs有效且安全的替代药物。有必要进一步研究以证实这些结果，并优化这一具有挑战性的患者群体的抗凝管理。
