Colucci Giuseppe, Tsakiris Dimitrios A
1 Service of Hematology, Clinica Luganese Moncucco, Lugano and synlab Suisse, Lucerne, Switzerland.
2 Diagnostic Hematology, Department of Hematology, University Hospital Basel, Basel, Switzerland.
Clin Appl Thromb Hemost. 2017 Nov;23(8):893-899. doi: 10.1177/1076029616683803. Epub 2017 Jan 4.
The utility of thrombophilia testing in clinical practice is still a matter of debate because studies have not shown a benefit in the reduction of recurrent venous thromboembolism (VTE) risk in patients with thrombosis, despite the clearly higher VTE risk for first thrombosis. Screening for thrombophilia is indicated in selected patients. Particularly in selected young patients, especially women of childbearing age, the knowledge of the genetic thrombophilic defect may help in specific situations to decrease the risk of VTE events. Avoidance of modifiable risk factors and/or prophylactic thromboembolic procedures may be evaluated in selected patients. A comprehensive workup including personal and familial history, clinical examination, and laboratory test results including hereditary thrombophilia remains helpful in assessing the cumulative risk and the management of this group of selected patients.
在临床实践中，血栓形成倾向检测的实用性仍存在争议，因为研究表明，尽管血栓形成患者首次发生静脉血栓栓塞（VTE）的风险明显更高，但检测并不能降低复发性VTE的风险。在特定患者中进行血栓形成倾向筛查是有必要的。特别是在特定的年轻患者中，尤其是育龄女性，了解遗传性血栓形成缺陷在特定情况下可能有助于降低VTE事件的风险。对于特定患者，可评估是否避免可改变的风险因素和/或采取预防性血栓栓塞措施。全面的检查，包括个人和家族病史、临床检查以及包括遗传性血栓形成倾向在内的实验室检查结果，对于评估这组特定患者的累积风险和管理仍有帮助。
