Favaloro Emmanuel J
Department of Haematology, Institute of Clinical Pathology and Medical Research, Westmead Hospital, Westmead, New South Wales, Australia.
Blood Coagul Fibrinolysis. 2011 Oct;22(7):553-64. doi: 10.1097/MBC.0b013e32834a7e01.
von Willebrand disease (VWD) is considered to be the most common inherited bleeding disorder. VWD is diagnosed following a clinical and physical review, with personal and familial evidence of (primarily mucocutaneous) bleeding, and confirmed by laboratory testing. The latter typically entails initial plasma testing of factor VIII coagulant, von Willebrand factor (VWF) protein ('antigen') and VWF function which has classically been assessed using the ristocetin cofactor (VWF:RCo) assay. More recent attention has focussed on other functional VWF assays, such as collagen binding and so-called 'VWF activity' assays, as possible replacements to the VWF:RCo, or as supplementary tests of VWF 'function'. Additional laboratory testing can comprise a battery of confirmatory and VWD-type assisting assays, including VWF:multimer and von Willebrand factor VIII binding. This review aims to update knowledge of current VWD diagnostics with a particular emphasis on 'functional' VWF assays.
血管性血友病(VWD)被认为是最常见的遗传性出血性疾病。VWD是在进行临床和体格检查后,根据个人及家族(主要是皮肤黏膜)出血证据做出诊断,并通过实验室检测得以确诊。后者通常首先要对凝血因子VIII、血管性血友病因子(VWF)蛋白(“抗原”)进行血浆检测,以及对VWF功能进行检测,传统上是使用瑞斯托霉素辅因子(VWF:RCo)试验进行评估。最近,人们更多地关注其他功能性VWF试验,如胶原结合试验和所谓的“VWF活性”试验,它们可能替代VWF:RCo试验,或作为VWF“功能”的补充检测。额外的实验室检测可包括一系列确证性和VWD类型辅助试验,包括VWF:多聚体和血管性血友病因子VIII结合试验。本综述旨在更新当前VWD诊断的相关知识,特别强调“功能性”VWF试验。