Department of Haematology and Transfusion Medicine, National Centre of Haemostasis and Thrombosis, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Martin University Hospital, Martin, Slovakia.
Semin Thromb Hemost. 2019 Feb;45(1):61-68. doi: 10.1055/s-0038-1676581. Epub 2019 Jan 10.
Since the identification of antithrombin deficiency by Egeberg in 1956, ongoing research in prothrombotic defects continues to progress. Interestingly, past research has predominantly focused on coagulation factors and not on other components of the hemostatic system. The possible role of platelet function defects in the development of thrombotic events was suggested for the first time in the late 1970s, when an increased platelet adhesiveness and aggregation after epinephrine (EPI) and adenosine diphosphate (ADP) was found in a group of patients with unexplained transient ischemic attack. Clinical evidence for other types of thrombotic events (e. g. myocardial infarction, ischemic stroke, optic neuropathy, and pregnancy-related complications) with similar laboratory findings was provided by several authors in the 1980s and 1990s, with Drs. Mammen and Bick undertaking key research. The familial occurrence was noted as well, and the term was introduced by Holliday in 1983 to describe the defect. The term in our present understanding describes a thrombophilic qualitative platelet disorder characterized by increased in vitro platelet aggregation after the addition of very low concentrations of ADP and/or EPI and an increased risk of thromboembolic (predominantly arterial) events. Although now recognized for 35 years, significant issues, namely its etiology, inheritance, epidemiology, and diagnostics, remain a matter of vigorous debate. The aim of this review is to summarize the history, key works, and present understanding of the syndrome and to outline present-day diagnostic and clinical problems and controversies.
自 1956 年 Egeberg 鉴定出抗凝血酶缺陷以来，对促血栓形成缺陷的持续研究不断取得进展。有趣的是，过去的研究主要集中在凝血因子上，而不是止血系统的其他成分上。早在 20 世纪 70 年代末，当一组不明原因的短暂性脑缺血发作患者发现肾上腺素（EPI）和二磷酸腺苷（ADP）后血小板黏附性和聚集性增加时，首次提出血小板功能缺陷在血栓形成事件发展中的可能作用。随后，其他类型的血栓形成事件（如心肌梗死、缺血性中风、视神经病变和与妊娠相关的并发症）的临床证据也由几位作者在 20 世纪 80 年代和 90 年代提供，Mammen 和 Bick 博士也进行了关键研究。家族性发病也被注意到，Holliday 于 1983 年提出了该术语来描述该缺陷。在我们目前的理解中，该术语描述了一种血栓形成的血小板质异常，其特征是在加入非常低浓度的 ADP 和/或 EPI 后体外血小板聚集增加，以及血栓栓塞（主要是动脉）事件的风险增加。尽管现在已经认识到该综合征已有 35 年的历史，但仍存在一些重大问题，即其病因、遗传、流行病学和诊断，这些问题仍然是激烈争论的焦点。本综述的目的是总结该综合征的历史、关键工作和目前的认识，并概述当前的诊断和临床问题和争议。
