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Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor

Sadler, J. E.; Budde, U.; Eikenboom, J. C. J.; Favaloro, E. J.; Hill, F. G. H.; Holmberg, Lars LU ; Ingerslev, J.; Lee, C. A.; Lillicrap, D. and Mannucci, M., et al. (2006) In Journal of Thrombosis and Haemostasis 4(10). p.2103-2114
Abstract
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.... (More)
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. (Less)
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Contribution to journal
publication status
published
subject
keywords
von Willebrand disease, pathophysiology, ADAMTS-13, classification
in
Journal of Thrombosis and Haemostasis
volume
4
issue
10
pages
2103 - 2114
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • wos:000240563100001
  • scopus:33748802581
ISSN
1538-7933
DOI
10.1111/j.1538-7836.2006.02146.x
language
English
LU publication?
yes
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5f35d301-7917-42a0-91e2-e36cbad50376 (old id 394027)
date added to LUP
2007-10-17 18:12:13
date last changed
2019-06-25 01:45:05
@article{5f35d301-7917-42a0-91e2-e36cbad50376,
  abstract     = {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.},
  author       = {Sadler, J. E. and Budde, U. and Eikenboom, J. C. J. and Favaloro, E. J. and Hill, F. G. H. and Holmberg, Lars and Ingerslev, J. and Lee, C. A. and Lillicrap, D. and Mannucci, M. and Mazurier, C. and Meyer, D. and Nichols, W. L. and Nishino, M. and Peake, I. R. and Rodeghiero, F. and Schneppenheim, R. and Ruggeri, Z. M. and Srivastava, A. and Montgomery, R. R. and Federici, A. B.},
  issn         = {1538-7933},
  keyword      = {von Willebrand disease,pathophysiology,ADAMTS-13,classification},
  language     = {eng},
  number       = {10},
  pages        = {2103--2114},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {Journal of Thrombosis and Haemostasis},
  title        = {Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor},
  url          = {http://dx.doi.org/10.1111/j.1538-7836.2006.02146.x},
  volume       = {4},
  year         = {2006},
}