National Hemophilia Center and Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel-Hashomer, Israel.
The Amalia Biron Institute of thrombosis research, Tel Aviv University, Tel Aviv, Israel.
Blood Adv. 2024 Sep 24;8(18):4950-4959. doi: 10.1182/bloodadvances.2024012611.
Inherited thrombophilia (IT) workup is commonly pursued in patients with venous thromboembolism (VTE). Recent American Society of Hematology guidelines recommend a selective approach to IT testing, nevertheless, evidence on whether thrombophilia testing can actually improve patient-important outcomes through tailored management is limited. Data from the large, prospective Registro Informatizado de Enfermedad TromboEmbólica (RIETE) registry were analyzed to compare VTE risk factors, management, and outcomes between patients who were tested for IT and untested patients, during anticoagulant treatment and after its discontinuation. Among 103 818 patients enrolled in RIETE, 21 089 (20.3%) were tested for IT, 8422 (8.1%) tested positive, and 82 729 (79.7%) were not tested. IT testing was more frequent in patients with VTE provoked by minor risk factors and less common in those with major risk factors such as surgery or active cancer. Choices of anticoagulant treatment did not differ based on IT testing results. Untested patients exhibited inferior outcomes across all VTE categories, with higher rates of VTE recurrence, major bleeding, mortality, and notably, cancer-related mortality. After treatment discontinuation, IT-negative patients with surgically provoked VTE showed lower recurrence rates. For immobilization-related VTE as well as in estrogen-related VTE, no significant differences in recurrence rates were observed between IT-negative and IT-positive patients. However, IT-negative patients with pregnancy or postpartum-related VTE had significantly lower recurrence rates. Patients with unprovoked VTE, particularly those testing positive for IT, had high recurrence rates after treatment. These findings underscore the complex role of IT testing in managing VTE, supporting personalized treatment strategies that consider VTE risk factors and comorbidities. The trial was registered at www.clinicaltrials.gov as #NCT02832245.
遗传性血栓形成倾向（IT）检查通常在静脉血栓栓塞症（VTE）患者中进行。最近美国血液学会指南建议采用选择性方法进行 IT 检测，但关于血栓形成倾向检测实际上是否可以通过针对性管理来改善患者重要结局的证据有限。从大型前瞻性血栓栓塞登记处（RIETE）的数据中进行分析，比较了在抗凝治疗期间和治疗停止后接受 IT 检测和未接受 IT 检测的患者之间的 VTE 危险因素、管理和结局。在 RIETE 登记处登记的 103818 名患者中，21089 名（20.3%）接受了 IT 检测，8422 名（8.1%）检测结果阳性，82729 名（79.7%）未接受检测。IT 检测在由较小危险因素引起的 VTE 患者中更为常见，而在由较大危险因素（如手术或活动性癌症）引起的 VTE 患者中较少见。基于 IT 检测结果，抗凝治疗的选择并无差异。在所有 VTE 类别中，未接受检测的患者的结局较差，VTE 复发、大出血、死亡率较高，尤其是癌症相关死亡率更高。在治疗停止后，由手术引起的 IT 阴性 VTE 患者复发率较低。对于与固定相关的 VTE 以及与雌激素相关的 VTE，IT 阴性和 IT 阳性患者之间的复发率无显著差异。然而，与妊娠或产后相关的 IT 阴性 VTE 患者的复发率显著较低。无诱因 VTE 患者，尤其是 IT 阳性患者，治疗后复发率较高。这些发现突出了 IT 检测在管理 VTE 中的复杂作用，支持考虑 VTE 危险因素和合并症的个性化治疗策略。该试验在 www.clinicaltrials.gov 上注册，编号为 #NCT02832245。
