Department of Paediatric Haematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
J Thromb Haemost. 2011 Jul;9 Suppl 1:209-15. doi: 10.1111/j.1538-7836.2011.04324.x.
von Willebrand disease (VWD), the most common inherited bleeding disorder in humans, is characterised by a prolonged bleeding time due to quantitative and/or functional deficits of von Willebrand factor (VWF), a huge multimeric protein. Given the large size and complexity of the protein, the many functions of VWF, for example, binding to collagen, to platelet GPIb, and to FVIII, the localisation of these binding sites in different VWF domains, as well as the dependence on a high molecular weight multimer structure for proper function, VWF is prone to quantitative and very heterogeneous structural and functional defects. Comprehensive clinical and laboratory phenotypic description of patients with VWD in correlation to the genotype has considerably increased our knowledge on this disorder and the physiology and pathophysiology of VWF. This article focuses on the phenotype/genotype relationship in VWD and the context of VWD types and subtypes with particular VWF domains.
血管性血友病（von Willebrand disease，VWD）是人类中最常见的遗传性出血性疾病，其特征是由于血管性血友病因子（von Willebrand factor，VWF）的数量和/或功能缺陷导致出血时间延长，VWF 是一种巨大的多聚体蛋白。鉴于该蛋白的体积大和结构复杂，VWF 具有多种功能，例如与胶原、血小板 GPIb 和 FVIII 结合，这些结合位点在不同的 VWF 结构域中的定位，以及对高分子量多聚体结构的依赖性对于正常功能，VWF 容易出现数量和非常异质性的结构和功能缺陷。对 VWD 患者的临床和实验室表型与基因型进行综合描述，大大提高了我们对这种疾病以及 VWF 的生理学和病理生理学的认识。本文重点介绍 VWD 的表型/基因型关系以及 VWD 类型和亚型与特定 VWF 结构域的关系。
