Favaloro Emmanuel J, Pasalic Leonardo
Haematology, Sydney Centres for Thrombosis and Haemostasis, Institute of Clinical Pathology and Medical Research, NSW Health Pathology, Westmead Hospital, Westmead, New South Wales, Australia.
School of Dentistry and Medical Sciences, Faculty of Science and Health, Charles Sturt University, Wagga Wagga, New South Wales, Australia.
Res Pract Thromb Haemost. 2023 Jun 30;7(5):102143. doi: 10.1016/j.rpth.2023.102143. eCollection 2023 Jul.
von Willebrand disease (VWD) is considered the most common bleeding disorder and arises from deficiency and/or defect in the adhesive plasma protein von Willebrand factor (VWF). Diagnosis of VWD requires clinical assessment and is facilitated by laboratory testing. Several guidelines for VWD diagnosis exist, with the latest American Society of Hematology, International Society on Thrombosis and Haemostasis, National Hemophilia Foundation, and World Federation of Hemophilia 2021 guidelines presenting 11 recommendations, some of which have drawn controversy. In the current narrative review, we provide additional context around difficulties in laboratory diagnosis/exclusion/typing of VWD, with a focus on developing countries/resource-poor settings. In particular, there are many variations in assay methodology, and some methods express high assay variability and poor low-level VWF sensitivity that compromises their utility. Although we favor an initial 4-test assay panel, comprising factor (F) VIII coagulant activity, VWF antigen, VWF glycoprotein Ib binding (VWF:GPIbR or VWF:GPIbM favored over VWF Ristocetin cofactor) and VWF collagen binding, we also provide strategies for laboratories only able to incorporate an initial 3-test assay panel, as favored by the latest guidelines, to improve diagnostic accuracy.
血管性血友病（VWD）被认为是最常见的出血性疾病，由血浆黏附蛋白血管性血友病因子（VWF）缺乏和/或缺陷引起。VWD的诊断需要临床评估，实验室检测有助于诊断。目前存在多项VWD诊断指南，最新的美国血液学会、国际血栓与止血学会、美国国家血友病基金会和世界血友病联盟2021年指南提出了11项建议，其中一些建议引发了争议。在当前的叙述性综述中，我们围绕VWD实验室诊断/排除/分型的困难提供了更多背景信息，重点关注发展中国家/资源匮乏地区。特别是，检测方法存在许多差异，一些方法表现出高检测变异性和低水平VWF敏感性差的问题，这损害了它们的实用性。尽管我们倾向于最初的四项检测组合，包括因子（F）VIII促凝活性、VWF抗原、VWF糖蛋白Ib结合（VWF:GPIbR或VWF:GPIbM优于VWF瑞斯托霉素辅因子）和VWF胶原结合，但我们也为仅能采用最新指南所青睐的最初三项检测组合的实验室提供了提高诊断准确性的策略。
