Varga Elizabeth A, Kerlin Bryce A, Wurster Mark W
Center for Molecular and Human Genetics, The Research Institute at Nationwide Children's Hospital, Columbus, Ohio 43205, USA.
Semin Thromb Hemost. 2008 Sep;34(6):549-61. doi: 10.1055/s-0028-1103366. Epub 2008 Nov 28.
Over the past 20 years, the landscape with respect to evaluation of thrombophilia, the inherited or acquired tendency to develop venous thromboembolism, has changed dramatically. Increased knowledge regarding the contribution of genetic predisposition to thrombosis has raised several questions regarding screening, diagnosis, and management. In this review, we will examine these issues while providing an update on genetic testing for inherited thrombotic disorders.
在过去20年里,关于血栓形成倾向(即遗传性或获得性静脉血栓栓塞倾向)评估的情况发生了巨大变化。对遗传易感性在血栓形成中作用的认识不断增加,引发了有关筛查、诊断和管理的若干问题。在本综述中,我们将审视这些问题,同时提供遗传性血栓性疾病基因检测的最新情况。