Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Heart Lung Circ. 2024 Apr;33(4):533-537. doi: 10.1016/j.hlc.2023.12.020. Epub 2024 Mar 7.
Hereditary thrombophilia (HT) testing is frequently conducted during the evaluation of patients with pulmonary embolism (PE). However, the utility of routine HT testing in this setting is unclear. We sought to assess the association of HT with risk of recurrent venous thromboembolism (VTE) following first-time PE.
We conducted a multi-hospital retrospective study. Two hundred and ninety (290) patients with a first-time PE, who had been tested for HT, completed at least 3 months of therapeutic anticoagulation (AC), subsequently discontinued AC, and were followed for at least 36 months thereafter, were included.
HT was present in 48 of the 290 included patients (17%). Median follow-up after discontinuing AC was 61 months (interquartile range, 43-79 months). The overall recurrence rate of VTE during follow-up was 58 per 290 (20%). A total of 47 of 242 patients (19%) in the HT-absent group had a recurrent VTE, compared with 11 of 48 (22%) in the HT-present group. There was no significant difference in VTE-free survival between groups on Kaplan-Meier analysis; the hazard ratio (HR) for VTE recurrence for those with HT compared to those without (HR HT-present: HT-absent) was 1.240 (95% confidence interval [CI] 0.614-2.502; p=0.548). On multivariable analysis, HT was not associated with risk of recurrent VTE (HR 1.262; 95% CI 0.640-2.488), and the only variable associated with VTE recurrence was unprovoked PE (HR 2.954; 95% CI 1.64-5.314).
These findings demonstrate that the presence of HT is not associated with the risk of recurrent VTE following first PE, and support limiting the use of HT testing among patients with first PE.
遗传性血栓形成倾向（HT）检测在肺栓塞（PE）患者的评估中经常进行。然而，在这种情况下常规 HT 检测的效用尚不清楚。我们旨在评估 HT 与首次 PE 后复发性静脉血栓栓塞（VTE）的风险之间的关联。
我们进行了一项多医院回顾性研究。纳入了 290 名接受过 HT 检测且至少接受 3 个月抗凝治疗（AC）的首次 PE 患者，随后停止 AC，并在之后至少随访 36 个月。
在纳入的 290 名患者中，有 48 名（17%）存在 HT。停止 AC 后中位随访时间为 61 个月（四分位间距，43-79 个月）。随访期间总的 VTE 复发率为 290 例中的 58 例（20%）。在 HT 阴性组中，242 例中有 47 例（19%）发生 VTE 复发，而在 HT 阳性组中，48 例中有 11 例（22%）。Kaplan-Meier 分析显示两组之间 VTE 无复发生存率无显著差异；HT 阳性患者与 HT 阴性患者相比，VTE 复发的风险比（HR）为 1.240（95%置信区间 [CI] 0.614-2.502；p=0.548）。多变量分析显示，HT 与复发性 VTE 的风险无关（HR 1.262；95% CI 0.640-2.488），唯一与 VTE 复发相关的变量是无诱因的 PE（HR 2.954；95% CI 1.64-5.314）。
这些发现表明，首次 PE 后 HT 的存在与复发性 VTE 的风险无关，并支持限制首次 PE 患者进行 HT 检测的使用。
