An update on the von Willebrand factor collagen binding assay: 21 years of age and beyond adolescence but not yet a mature adult
An update on the von Willebrand factor collagen binding assay: 21 years of age and beyond adolescence but not yet a mature adult
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DOI：
10.1055/s-2007-1000364
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发表时间：
2007-11-01
影响因子：
5.7
通讯作者：
Favaloro, Emmanuel J.
中科院分区：
文献类型：
--
作者：
Favaloro, Emmanuel J.
血管性血友病（VWD）被认为是最常见的遗传性出血性疾病。该病在临床和体格检查后诊断，有个人和家族出血（主要是粘膜皮肤）的证据，并经实验室检查证实。后者通常需要对凝血因子VIII （FVIII:C）、血管性血友病因子（VWF）蛋白（抗原；VWF:Ag）和VWF功能进行初始血浆检测，而VWF功能的评估通常使用利斯托司汀辅助因子（VWF:RCo）测定法。最近更多的注意力集中在另一种功能性VWF试验上，胶原结合（VWF:CB）试验，作为VWF:RCo试验的可能替代或作为VWF粘附“活性”的补充试验。额外的实验室检测可包括一系列确证性和VWD亚型辅助检测，包括VWF多位点评估。这篇综述更新了我们对VWD诊断的认识，特别强调了VWF:CB测定。现在有充分的证据表明，优化后的VWF:CB测定法可以显著降低诊断错误率，否则，由于使用仅限于将VWF:RCo测定法作为唯一功能性VWF测定法的检测组而产生的诊断错误率。然而，在表型检测中，VWF:CB测定不应完全取代VWF:RCo测定，而应作为一种补充测定。然而，经过一些思考和论证，VWF:CB测定可用于在某些“筛选”应用中部分取代VWF:RCo测定，也可用于在大多数测试用例中取消执行常规VWF：多定时器的需要。
von Willebrand disease (VWD) is considered to be the most common inherited bleeding disorder. It is diagnosed after 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 (FVIII:C), von Willebrand factor (VWF) protein (antigen; VWF:Ag), and VWF function, which has classically been assessed using the ristocetin cofactor (VWf:RCo) assay. More recent attention has focused on another functional VWF assay, the collagen binding (VWF:CB) assay, as a possible replacement for the VWF:RCo assay or as a supplementary test of VWF adhesive "activity." Additional laboratory testing can comprise a battery of confirmatory and VWD subtype assisting assays, including assessment of VWF:multimers. This review updates our knowledge of VWD diagnostics with a particular emphasis on the VWF:CB assay. There is good evidence now in place that an optimized VWF:CB assay can significantly reduce the diagnostic error rate otherwise arising from the use of a test panel restricted to including the VWF:RCo assay as the sole functional VWF assay. Nevertheless, the VWF:CB assay should not be used to wholly replace the VWF:RCo assay in phenotypic testing but rather as a supplementary assay. However, with some thought and justification, the VWF:CB assay can be used to partly replace the VWF:RCo assay in some "screening" applications and can also be used to abrogate the need to perform routine VWF:multimers in most test cases.