Icahn School of Medicine at Mount Sinai, Mount Sinai Morningside and West Hospitals, New York City, New York, USA.
Icahn School of Medicine at Mount Sinai, Tisch Cancer Institute, New York City, New York, USA.
Int J Lab Hematol. 2022 Apr;44(2):393-398. doi: 10.1111/ijlh.13752. Epub 2021 Nov 8.
Hereditary-thrombophilia (HT) testing is often sent during the evaluation of patients with unprovoked venous thromboembolism (VTE). This remains a frequent practice even though the results of such testing are often of unclear practical significance.
We conducted a multicenter retrospective study to assess whether HT is associated with risk of recurrent VTE among patients who discontinue anticoagulation (AC) following an unprovoked VTE.
A total of 528 adult patients were included, 28% of whom (N = 110) tested positive for HT. Median follow-up was 55 months (IQR 40-66 months) following AC discontinuation. One hundred and twenty-four patients (23%) had a recurrent VTE during follow-up, including 29/110 with HT (26%) and 95/418 without HT (23%). Risk of recurrent VTE over time was similar between the two groups (logrank P = .47). The HR for recurrence among patients with HT was 1.17 (95% CI 0.76 to 1.81). On multivariable analysis, HT was not associated with recurrence of VTE (HR with HT = 1.07 (95% CI 0.69-1.65), P = .74). The only factor significantly associated with risk of VTE recurrence on multivariable analysis was presence of PE (as opposed to DVT alone) (HR = 1.54, 95% CI 1.02-2.30, P = .035).
The presence of HT was not associated with risk of recurrent VTE in this cohort of patients. These findings underscore the questionable clinical utility of routine thrombophilia testing among patient with unprovoked VTE and suggest that such testing should not be routinely pursued.
遗传性血栓形成倾向 (HT) 检测常用于评估无诱因静脉血栓栓塞症 (VTE) 患者。即使此类检测结果通常对实际意义的影响不明确，但这种做法仍很常见。
我们进行了一项多中心回顾性研究，以评估在无诱因 VTE 停止抗凝治疗 (AC) 后，HT 是否与复发性 VTE 风险相关。
共纳入 528 例成年患者，其中 28%（N=110）检测出 HT 阳性。AC 停药后中位随访时间为 55 个月（IQR 40-66 个月）。在随访期间，124 例患者（23%）发生复发性 VTE，其中 HT 组 29/110（26%），非 HT 组 95/418（23%）。两组患者随时间的复发性 VTE 风险相似（对数秩检验 P=0.47）。HT 患者的复发风险比为 1.17（95%CI 0.76-1.81）。多变量分析显示，HT 与 VTE 复发无关（HT 组 HR=1.07（95%CI 0.69-1.65），P=0.74）。多变量分析显示，唯一与 VTE 复发风险显著相关的因素是存在 PE（而非单纯 DVT）（HR=1.54，95%CI 1.02-2.30，P=0.035）。
在本队列患者中，HT 的存在与复发性 VTE 风险无关。这些发现突显了在无诱因 VTE 患者中常规进行血栓形成倾向检测的临床实用性值得怀疑，并表明不应常规进行此类检测。
