Favaloro Emmanuel J
Haematology Department, Sydney Centres for Thrombosis and Haemostasis, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, NSW Health Pathology, Westmead, NSW, 2145, Australia.
Methods Mol Biol. 2017;1646:391-402. doi: 10.1007/978-1-4939-7196-1_29.
von Willebrand disease (VWD) is a common bleeding disorder diagnosed based on clinical features and following laboratory testing. VWD is due to deficiencies or defects in the plasma protein von Willebrand factor (VWF), a large adhesive protein with multiple activities. Laboratory testing therefore centers on assessment of VWF protein level using VWF antigen (VWF:Ag), as well as assays that measure VWF activity, most notably platelet glycoprotein (GP) Ib and collagen binding (VWF:CB) activities. Decreases in VWF:Ag and VWF activities, as well as the pattern of such changes, help define VWD and its type. Classically, the most often used assay for measuring GPIb binding activity was the ristocetin cofactor assay (VWF:RCo), which historically measured agglutination of fixed human platelets by VWF in the presence of ristocetin. This assay is now often replaced or supplemented with other assays based on binding of VWF to recombinant GPIb, generally without the use of platelets, and with or without ristocetin. This chapter briefly reviews laboratory tests for VWD, as well as recommended approaches to use of such assays to help diagnose or exclude VWD in patients showing clinical features.
血管性血友病（VWD）是一种常见的出血性疾病，根据临床特征及后续实验室检查进行诊断。VWD是由于血浆蛋白血管性血友病因子（VWF）缺乏或缺陷所致，VWF是一种具有多种活性的大型黏附蛋白。因此，实验室检查主要围绕使用VWF抗原（VWF:Ag）评估VWF蛋白水平，以及测量VWF活性的检测方法展开，其中最主要的是血小板糖蛋白（GP）Ib和胶原结合（VWF:CB）活性检测。VWF:Ag和VWF活性的降低以及这种变化模式有助于明确VWD及其类型。传统上，测量GPIb结合活性最常用的检测方法是瑞斯托霉素辅因子检测（VWF:RCo），该方法过去是在瑞斯托霉素存在的情况下，检测VWF对固定人血小板的凝集作用。现在，该检测方法常被基于VWF与重组GPIb结合的其他检测方法所取代或补充，这些方法通常不使用血小板，且可使用或不使用瑞斯托霉素。本章简要回顾了VWD的实验室检查，以及在有临床特征的患者中使用这些检测方法来帮助诊断或排除VWD的推荐方法。
