Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, North South Wales, Australia.
Sydney Centres for Thrombosis and Haemostasis, Westmead, North South Wales, Australia.
Semin Thromb Hemost. 2022 Sep;48(6):750-766. doi: 10.1055/s-0042-1754331. Epub 2022 Sep 2.
von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder, and can also arise as an acquired (von Willebrand) syndrome (AVWS). The hemostasis laboratory plays a key role in the diagnosis or exclusion of VWD/AVWS, which may otherwise be suspected due to the patient's clinical (bleeding) history. VWD/AVWS arise from deficiency and/or defects in the adhesive plasma protein, von Willebrand factor (VWF). VWF undertakes various roles within hemostasis, but principally acts within primary hemostasis to anchor platelets to sites of vascular damage, thereby facilitating thrombus formation to arrest bleeding. The diagnosis or exclusion of VWD/AVWS requires laboratory testing for both VWF level and activity, with the latter potentially comprising several of a potential plethora of different assays. Complete diagnosis of VWD also requires the differentiation of VWD type, with six types comprising the current classification (i.e., qualitative [types 2A, 2B, 2M, 2N VWD] quantitative [types 1 and 3 VWD] deficiency/defects). Although appropriate diagnosis and type classification hold important therapeutic consequences, these remain problematic and sometimes elusive for some laboratories to achieve. This report reviews the laboratory aided diagnosis or exclusion of VWD from a geographic perspective, and focuses on the disparities of approaches and methods in different regions of the world. This is primarily done from the perspective of data available from published reports related to external quality assessment (or proficiency testing) from different geographic localities. Moreover, differences in approaches between laboratories may arise due to differential adherence of particular guidelines, as well as regulatory aspects and predominance of local manufacturers and suppliers.
血管性血友病（von Willebrand disease，VWD）据报道是最常见的遗传性出血性疾病，也可作为获得性（von Willebrand）综合征（acquired von Willebrand syndrome，AVWS）出现。止血实验室在 VWD/AVWS 的诊断或排除中起着关键作用，否则可能会根据患者的临床（出血）病史怀疑存在 VWD/AVWS。VWD/AVWS 是由于黏附性血浆蛋白 von Willebrand 因子（von Willebrand factor，VWF）的缺乏和/或缺陷引起的。VWF 在止血中发挥多种作用，但主要在初级止血中发挥作用，将血小板锚定到血管损伤部位，从而促进血栓形成以止血。VWD/AVWS 的诊断或排除需要进行 VWF 水平和活性的实验室检测，后者可能包括多种潜在的不同检测方法。VWD 的完整诊断还需要区分 VWD 类型，目前的分类包括六种类型（即，质的[2A、2B、2M、2N VWD]和量的[1 型和 3 型 VWD]缺乏/缺陷）。尽管适当的诊断和类型分类具有重要的治疗意义，但对于一些实验室来说，这仍然是一个问题，有时难以实现。本报告从地理角度回顾了实验室辅助诊断或排除 VWD 的方法，并重点介绍了世界不同地区方法和方法的差异。这主要是根据来自不同地理区域的与外部质量评估（或能力验证）相关的已发表报告中提供的数据进行的。此外，由于对特定指南的不同遵守情况以及监管方面和当地制造商和供应商的优势，实验室之间的方法可能存在差异。
