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首页> 外文期刊>Journal of thrombosis and haemostasis: JTH >Vicenza deciphered: Modeling the von Willebrand disease enigma: Commentary on accelerated clearance alone explains ultralarge multimers in VWD Vicenza
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Vicenza deciphered: Modeling the von Willebrand disease enigma: Commentary on accelerated clearance alone explains ultralarge multimers in VWD Vicenza

机译：维琴察（Vicenza）破译：模拟von Willebrand病的谜：仅对加速清除的评论解释了VWD维琴察（VWD）中的超大型多聚体

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摘要

The von Willebrand factor (VWF) Vicenza variant is one of the most heavily studied among von Willebrand disease (VWD) phenotypes. Recent work by Gezsi et al. [1] facilitates further development of our understanding of the phenotype. The Vicenza variant was first described by Marmucci and colleagues in 1998 [2]. It was identified in two Italian kindreds who inherited lifelong bleeding as an autosomal dominant trait. All 10 patients from the families had ultra-large (UL) plasma VWF multimers with the same appearance as plasma multimers post-desmopressin infusion or platelet VWF multimers. Factor (F)VIII, von Willebrand factor antigen (VWF:Ag) and von Willebrand factor ristocetin cofactor (VWF:RCo) were all low whereas the quantity of platelet VWF:Ag and VWF:RCo were normal. The bleeding time was normal or only slightly prolonged. Post-desmopressin infusion, FVIII, VWF:Ag and VWF:RCo increased markedly. These findings apply to the majority of the many patients since reported with the phenotype, with the exception of UL multimers at baseline being seen in only a proportion of cases.
机译：von Willebrand因子（VWF）Vicenza变异体是von Willebrand疾病（VWD）表型中研究最多的一种。 Gezsi等人的最新工作。 [1]促进了我们对表型的进一步发展。 Marmucci及其同事在1998年首次描述了维琴察变种[2]。在两名意大利血统中被发现，他们将终身出血作为常染色体显性遗传。该家族的所有10例患者均具有超大型（UL）血浆VWF多聚体，其外观与去氨加压素输注后的血浆多聚体或血小板VWF多聚体相同。 （F）VIII因子，von Willebrand因子抗原（VWF：Ag）和von Willebrand因子ristocetin辅因子（VWF：RCo）均较低，而血小板VWF：Ag和VWF：RCo的量正常。出血时间正常或仅略微延长。去氨加压素输注后，FVIII，VWF：Ag和VWF：RCo明显增加。这些发现适用于自表型报告以来的许多患者中的大多数，只有基线的UL多聚体仅在一部分病例中可见。

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