Division of Hematology-Oncology, Department of Medicine, Weill Cornell Medicine/New York Presbyterian Hospital, New York, New York, USA.
Division of Hematology-Oncology, Department of Medicine, Weill Cornell Medicine/New York Presbyterian Hospital, New York, New York, USA.
J Thromb Haemost. 2024 Nov;22(11):3183-3190. doi: 10.1016/j.jtha.2024.07.026. Epub 2024 Aug 14.
Patients with hereditary antithrombin deficiency (HAD) have an increased risk of venous thromboembolism (VTE). The American Thrombosis and Hemostasis Network (ATHN) 12: HAD Pilot Project established a registry to collect data on patients with HAD.
To inform current practice and serve as a platform to design a multicenter global registry for patients with HAD.
The HAD registry was designed in 2020 to identify 100 patients with HAD receiving care at ATHN-affiliated centers. Demographics, type of HAD, thrombotic events, risk factors, anticoagulants, and antithrombin (AT) concentrate administration were recorded.
Ninety-four patients were included; 65% were females; 51% had type 1 HAD. Mean age at diagnosis was 26 years (SD, 18 years); 61% had VTE: 55% deep vein thrombosis and 27% pulmonary embolisms. Eight patients had arterial thrombosis. Recurrent thrombosis occurred in 58.6% of patients (44.8%) despite anticoagulation. The main risk factor for thrombosis in females was estrogen. Direct oral anticoagulants were prescribed in 30%, heparin in 34%, and warfarin in 32%. There were 139 pregnancies. Low-molecular-weight heparin was administered in 33% and AT concentrate in 19% and 11% prior to and after delivery, respectively. Twelve patients developed thrombosis in pregnancy. Seventy-nine patients underwent 239 surgeries or procedures, mainly gastrointestinal and vascular. Overall, 35% of participants received AT concentrate without adverse events.
In ATHN 12, VTE was the predominant manifestation, frequently recurrent. There was a trend toward using direct oral anticoagulants. Low-molecular-weight heparin was administered in one-third of pregnancies and AT concentrate in one-fifth without adverse events. These data should encourage prospective studies to optimize the management of these patients.
遗传性抗凝血酶缺陷症（HAD）患者发生静脉血栓栓塞症（VTE）的风险增加。美国血栓与止血网络（ATHN）12：HAD 试点项目建立了一个登记处，以收集 HAD 患者的数据。
为当前的临床实践提供信息，并作为一个平台来设计一个针对 HAD 患者的多中心全球登记处。
2020 年设计了 HAD 登记处，以确定在 ATHN 附属中心接受治疗的 100 例 HAD 患者。记录了人口统计学、HAD 类型、血栓事件、危险因素、抗凝剂和抗凝血酶（AT）浓缩物的使用情况。
纳入 94 例患者；女性占 65%；1 型 HAD 占 51%。诊断时的平均年龄为 26 岁（标准差 18 岁）；61%有 VTE：55%深静脉血栓形成和 27%肺栓塞。8 例有动脉血栓形成。尽管进行了抗凝治疗，但仍有 58.6%（44.8%）的患者发生复发性血栓形成。女性血栓形成的主要危险因素是雌激素。30%的患者处方了直接口服抗凝剂，34%的患者处方了肝素，32%的患者处方了华法林。有 139 例妊娠。分别有 33%和 19%、11%的患者在分娩前和分娩后使用了低分子肝素和 AT 浓缩物。12 例患者在妊娠期间发生血栓形成。79 例患者接受了 239 次手术或操作，主要是胃肠道和血管手术。总体而言，35%的患者使用 AT 浓缩物无不良反应。
在 ATHN 12 中，VTE 是主要表现，且常复发。有使用直接口服抗凝剂的趋势。三分之一的妊娠使用了低分子肝素，五分之一的妊娠使用了 AT 浓缩物，且无不良反应。这些数据应鼓励开展前瞻性研究，以优化这些患者的管理。
