Publication
Title
Dominant von Willebrand disease type 2A groups I and II due to missense mutations in the A2 domain of the von Willebrand factor gene : diagnosis and management
Author
Abstract
Pertinent findings in patients with von Willebrand disease (VWD) type 2A include prolonged bleeding time (BT), consistently low von Willebrand factor (VWF): ristocetin cofactor activity (RCo)/antigen concentration (Ag) and VWF: collagen binding (CB)/Ag ratios, absence of high, and (depending on severity) intermediate and large VWF multimers, the presence of pronounced triplet structure of individual bands and increased VWF degradation products due to increased proteolysis caused by mutations in the A2 domain of VWF. Two categories of VWD type 2A can be distinguished: group I with severe and group II with mild VWD. A minority of VWD type 2A have mild VWD characterized by near normal to prolonged BT, normal factor VIII coagulant activity and VWF: Ag, low VWF: RCo and VWF: CB, a normal ristocetin-induced platelet aggregation and complete but transient correction of BT and functional VWF parameters to normal levels for only a few hours due to short half-lives for VWF: RCo and CWF: CB. Such transient complete responses to desmopressin (DDAVP) lasting only a few hours may facilitate treatment and prophylaxis of minor bleedings, but may not be able to prevent bleeding during minor and major surgery. Most VWD type 2A patients have pronounced VWD with very low VWF: RCo, prolonged BT, PFA-100 closure times 1 250 s, and response to DDAVP is only transient, minor, poor or absent, with no correction of the BT despite some increase in VWF: RCo, thus being candidates for factor VIII-VWF concentrate substitution for the acute and prophylactic treatment of bleeding symptoms. Copyright (C) 2009 S. Karger AG, Basel
Language
English
Source (journal)
Acta haematologica. - Basel
Publication
Basel : 2009
ISSN
0001-5792
Volume/pages
121:2/3(2009), p. 154-166
ISI
000267016600011
Full text (Publisher's DOI)
Full text (publisher's version - intranet only)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 24.02.2012
Last edited 21.06.2017
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