Sadler J E, Budde U, Eikenboom J C J, Favaloro E J, Hill F G H, Holmberg L, Ingerslev J, Lee C A, Lillicrap D, Mannucci P M, Mazurier C, Meyer D, Nichols W L, Nishino M, Peake I R, Rodeghiero F, Schneppenheim R, Ruggeri Z M, Srivastava A, Montgomery R R, Federici A B
Howard Hughes Medical Institute, Washington University, St Louis, MO 63110, USA.
J Thromb Haemost. 2006 Oct;4(10):2103-14. doi: 10.1111/j.1538-7836.2006.02146.x. Epub 2006 Aug 2.
von Willebrand disease (VWD) is a bleeding disorder caused by inherited defects in the concentration, structure, or function of von Willebrand factor (VWF). VWD is classified into three primary categories. Type 1 includes partial quantitative deficiency, type 2 includes qualitative defects, and type 3 includes virtually complete deficiency of VWF. VWD type 2 is divided into four secondary categories. Type 2A includes variants with decreased platelet adhesion caused by selective deficiency of high-molecular-weight VWF multimers. Type 2B includes variants with increased affinity for platelet glycoprotein Ib. Type 2M includes variants with markedly defective platelet adhesion despite a relatively normal size distribution of VWF multimers. Type 2N includes variants with markedly decreased affinity for factor VIII. These six categories of VWD correlate with important clinical features and therapeutic requirements. Some VWF gene mutations, alone or in combination, have complex effects and give rise to mixed VWD phenotypes. Certain VWD types, especially type 1 and type 2A, encompass several pathophysiologic mechanisms that sometimes can be distinguished by appropriate laboratory studies. The clinical significance of this heterogeneity is under investigation, which may support further subdivision of VWD type 1 or type 2A in the future.
血管性血友病（VWD）是一种出血性疾病，由血管性血友病因子（VWF）的浓度、结构或功能的遗传性缺陷引起。VWD分为三大类。1型包括部分定量缺乏，2型包括定性缺陷，3型包括几乎完全缺乏VWF。2型VWD又分为四个亚类。2A型包括因高分子量VWF多聚体选择性缺乏导致血小板黏附降低的变异型。2B型包括对血小板糖蛋白Ib亲和力增加的变异型。2M型包括尽管VWF多聚体大小分布相对正常但血小板黏附明显缺陷的变异型。2N型包括对因子VIII亲和力明显降低的变异型。这六类VWD与重要的临床特征和治疗需求相关。一些VWF基因突变单独或联合存在时具有复杂效应，可导致混合性VWD表型。某些VWD类型，尤其是1型和2A型，包含多种病理生理机制，有时可通过适当的实验室检查加以区分。这种异质性的临床意义正在研究中，未来可能支持对1型或2A型VWD进行进一步细分。
