Arianna Anticoagulazione Foundation, Bologna, Italy.
SOD Malattie Aterotrombotiche, University Hospital "Careggi", Florence, Italy.
Blood Transfus. 2021 May;19(3):244-252. doi: 10.2450/2021.0262-20. Epub 2021 Jan 27.
Even though it rarely influences venous thromboembolism (VTE) treatment and the fact that it is generally discouraged, thrombophilia testing is still largely prescribed. We assessed: 1) whether/how frequently Italian thrombosis centres requested thrombophilia testing; 2) what results were obtained; and 3) if the results affected treatment and clinical results.
We examined data from 4,826 VTE patients enrolled by 19 clinical centres participating in the START 2-Register.
57.2% of patients were tested. Numbers varied widely among centres (2.9-99.7%). Thrombophilic alterations were recorded in 18.2% of patients and the percentage of positive results was inversely correlated with that of patients tested. Significantly less patients with deep vein thrombosis (DVT) were tested, whereas more were tested when the event was idiopathic, presenting as isolated pulmonary embolism (PE), or in unusual sites. Patients with thrombophilic alterations were younger, more frequently treated with direct oral anticoagulants (DOACs), with lower mortality and less frequently discontinued anticoagulation. DOACs were more frequently prescribed in patients with heterozygous Factor V (FV) Leiden or prothrombin mutations, whereas vitamin K antagonists were preferred in patients with inhibitor deficiencies, combined alterations or antiphospholipid syndrome (APLS). There was no difference in duration of treatment among those with or without alterations, though more APLS patients received an extended treatment course. Bleeding and thrombotic complications occurred with a similar and fairly low incidence in patients with or without thrombophilic alterations.
Although general testing for thrombophilia in VTE patients is currently discouraged, more than half of the VTE patients included in the START2-Register were tested. However, there were marked differences in practice between Italian thrombosis centres. About 60% of all patients with alterations were treated with DOACs, confirming that DOACs can be a useful option for treatment of thrombophilic VTE patients, with the exclusion of those with APLS.
尽管血栓形成倾向检测很少影响静脉血栓栓塞症（VTE）的治疗，且通常不鼓励进行检测，但这种检测在临床上仍广泛开展。我们评估了：1）意大利血栓形成中心是否以及如何频繁地要求进行血栓形成倾向检测；2）获得了哪些结果；3）这些结果是否影响治疗和临床结局。
我们分析了 19 个临床中心参与的 START 2 注册研究中纳入的 4826 例 VTE 患者的数据。
57.2%的患者接受了检测。各中心间差异很大（2.9%-99.7%）。在 18.2%的患者中记录到血栓形成倾向改变，阳性结果的百分比与接受检测的患者百分比呈反比。深静脉血栓形成（DVT）患者的检测率明显较低，而当事件为特发性、表现为孤立性肺栓塞（PE）或发生在不常见部位时，检测率较高。存在血栓形成倾向改变的患者更年轻，更常接受直接口服抗凝剂（DOAC）治疗，死亡率较低，抗凝治疗停药率较低。在携带杂合子因子 V（FV） Leiden 或凝血酶原突变的患者中，更常使用 DOAC，而在存在抑制物缺乏、联合改变或抗磷脂综合征（APLS）的患者中，更常使用维生素 K 拮抗剂。存在或不存在血栓形成倾向改变的患者的治疗持续时间无差异，但更多的 APLS 患者接受了延长的治疗疗程。有或没有血栓形成倾向改变的患者发生出血和血栓并发症的发生率相似且相当低。
尽管目前不鼓励对 VTE 患者进行常规的血栓形成倾向检测，但在 START2-Register 中纳入的大多数 VTE 患者都接受了检测。然而，意大利血栓形成中心之间的实践存在显著差异。大约 60%的存在改变的患者接受了 DOAC 治疗，这证实 DOAC 可以作为治疗存在血栓形成倾向的 VTE 患者的一种有用选择，除了存在 APLS 的患者。
