Rethinking the diagnosis of von Willebrand disease

被引:24
作者
Favaloro, Emmanuel J. [1 ]
机构
[1] Westmead Hosp, Dept Haematol, WSAHS, ICPMR, Westmead, NSW 2145, Australia
关键词
von Willebrand disease; VWD; Diagnosis; Desmopressin; DDAVP; Collagen binding; Genetic testing; COLLAGEN-BINDING; A3; DOMAIN; IDENTIFICATION; VWF; 2B; PROGRAM; UTILITY; UPDATE; ASSAY;
D O I
10.1016/S0049-3848(10)70149-3
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
von Willebrand disease (VWD) is the most common inherited bleeding disorder and arises from deficiencies and/or defects in the plasma protein von Willebrand factor (VWF). VWD is classified into 6 different types, with type 1 identified as a (partial) quantitative deficiency of VWF, type 3 defined by a (virtual) total deficiency of VWF, and type 2 identifying four separate types (2A, 2B, 2M, 2N) characterised by qualitative defects. The classification is based on phenotypic assays including FVIII, VWF: Ag and VWF activity, typically by ristocetin cofactor (VWF: RCo), but also increasingly by collagen binding (VWF: CB). Phenotypic testing may be supplemented by multimer analysis, RIPA, and VWF: FVIII binding. Although genetic analysis is not required to diagnose VWD or to define a classification type, it may be useful in discrete situations. The current review briefly covers this diagnostic process, with a focus on newer approaches, including extended test panels and the use of data from desmopressin challenges as a diagnostic tool. (C) 2010 Elsevier Ltd. All rights reserved.
引用
收藏
页码:S17 / S21
页数:5
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