Autosomal Dominant von Willebrand Disease Type 2M

被引：8
|
作者：
Hermans, Cedric [1 ]
Batlle, Javier [2 ,3 ]
机构：
[1] St Luc Univ Hosp, Hemophilia Clin, Hemostasis & Thrombosis Unit, Ctr Thrombosis & Hemostasis, BE-1200 Brussels, Belgium
[2] Univ Santiago Compostela, Dept Med, Santiago De Compostela, Spain
[3] Complexo Hosp Univ Juan Canalejo, Serv Hematol & Hemoterapia, La Coruna, Spain
来源：
ACTA HAEMATOLOGICA | 2009年 / 121卷 / 2-3期
关键词：
Desmopressin response; Multimeric patterns; Phenotype; Platelet adhesion; Type; 2M; von Willebrand disease; COLLAGEN-BINDING ASSAY; FACTOR VWF; REVISED CLASSIFICATION; GENOTYPE; IDENTIFICATION; PHENOTYPE; VARIANT; 2A;
D O I：
10.1159/000214854
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
von Willebrand disease (VWD) type 2M is a distinct entity and clearly differs from type 1. The genotype-phenotype correlation for cases with ristocetin cofactor activity (RCo)/antigen (Ag) ratios <0.60 is clear, whereas the von Willebrand factor (VWF): collagen binding (CB)/VWF: Ag ratio is normal in VWD 2M. Typical laboratory features of VWD type 2 M are decreased ristocetin-induced platelet aggregation in the presence of a normal or near normal VWF multimeric pattern on a low-resolution agarose gel, a poor response to desmopressin (DDAVP) of VWF: RCo, and a good response of both VWF: CB and VWF: Ag to DDAVP. The phenotypic definition of VWD type 2M may need to be more stringent and should be the subject of an international standardization initiative. Copyright (C) 2009 S. Karger AG, Basel
引用
收藏
页码：139 / 144
页数：6
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