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Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD)

Haberichter, Sandra L; Castarnan, Giancarlo; Budde, Ulrich; Peake, Ian; Goodeve, Anne; Rodeghiero, Francesco; Federici, Augusto B; Batlle, Javier; Meyer, Dominique and Mazurier, Claudine, et al. (2008) In Blood 111(10). p.4979-4985
Abstract
The decreased survival of von Willebrand factor (VWF) in plasma has been implicated as a mechanism in a subset of type 1 von Willebrand disease (VWD) patients. We have previously reported that the ratio of plasma levels of VWF and its propeptide (VWFpp) can be used to identify patients with reduced VWF survival. In this study, we report the assay of VWFpp and VWF:Ag in 19 individuals recruited from 6 European centers within the MCMDM-1VWD study. Eight individuals had a VWF:Ag level less than 30 IU/dL. Seven of these patients had a robust desmopressin response and significantly reduced VWF half-life that was predicted by a markedly increased steady-state plasma VWFpp/VWF:Ag ratio. VWF mutations previously associated with reduced VWF... (More)
The decreased survival of von Willebrand factor (VWF) in plasma has been implicated as a mechanism in a subset of type 1 von Willebrand disease (VWD) patients. We have previously reported that the ratio of plasma levels of VWF and its propeptide (VWFpp) can be used to identify patients with reduced VWF survival. In this study, we report the assay of VWFpp and VWF:Ag in 19 individuals recruited from 6 European centers within the MCMDM-1VWD study. Eight individuals had a VWF:Ag level less than 30 IU/dL. Seven of these patients had a robust desmopressin response and significantly reduced VWF half-life that was predicted by a markedly increased steady-state plasma VWFpp/VWF:Ag ratio. VWF mutations previously associated with reduced VWF survival were identified in each of the 7 individuals. Thus, a substantially increased ratio of steady-state VWFpp/ VWF:Ag predicted a reduced VWF half-life in patients with markedly decreased VWF:Ag levels. These data indicate that a reduced VWF survival is found in a sub-population of patients with type 1 VWD. The systematic assay of both plasma VWF and the VWF propeptide in moderately severe type 1 VWD patients may identify patients with a reduced VWF survival phenotype. (Less)
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publication status
published
subject
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Blood
volume
111
issue
10
pages
4979 - 4985
publisher
American Society of Hematology
external identifiers
  • wos:000255883100030
  • scopus:46749133213
ISSN
1528-0020
DOI
10.1182/blood-2007-09-110940
language
English
LU publication?
yes
id
c39d17b7-ed58-4195-be97-5cae1905af80 (old id 1204339)
date added to LUP
2008-09-17 13:02:09
date last changed
2017-11-05 03:41:57
@article{c39d17b7-ed58-4195-be97-5cae1905af80,
  abstract     = {The decreased survival of von Willebrand factor (VWF) in plasma has been implicated as a mechanism in a subset of type 1 von Willebrand disease (VWD) patients. We have previously reported that the ratio of plasma levels of VWF and its propeptide (VWFpp) can be used to identify patients with reduced VWF survival. In this study, we report the assay of VWFpp and VWF:Ag in 19 individuals recruited from 6 European centers within the MCMDM-1VWD study. Eight individuals had a VWF:Ag level less than 30 IU/dL. Seven of these patients had a robust desmopressin response and significantly reduced VWF half-life that was predicted by a markedly increased steady-state plasma VWFpp/VWF:Ag ratio. VWF mutations previously associated with reduced VWF survival were identified in each of the 7 individuals. Thus, a substantially increased ratio of steady-state VWFpp/ VWF:Ag predicted a reduced VWF half-life in patients with markedly decreased VWF:Ag levels. These data indicate that a reduced VWF survival is found in a sub-population of patients with type 1 VWD. The systematic assay of both plasma VWF and the VWF propeptide in moderately severe type 1 VWD patients may identify patients with a reduced VWF survival phenotype.},
  author       = {Haberichter, Sandra L and Castarnan, Giancarlo and Budde, Ulrich and Peake, Ian and Goodeve, Anne and Rodeghiero, Francesco and Federici, Augusto B and Batlle, Javier and Meyer, Dominique and Mazurier, Claudine and Goudemand, Jenny and Eikenboom, Jeroen and Schneppenheim, Reinhard and Ingerslev, Jorgen and Vorlova, Zdena and Habart, David and Holmberg, Lars and Lethagen, Stefan and Pasi, John and Hill, Frank G H and Montgomery, Robert R},
  issn         = {1528-0020},
  language     = {eng},
  number       = {10},
  pages        = {4979--4985},
  publisher    = {American Society of Hematology},
  series       = {Blood},
  title        = {Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD)},
  url          = {http://dx.doi.org/10.1182/blood-2007-09-110940},
  volume       = {111},
  year         = {2008},
}