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)

Blood. 2008 May 15;111(10):4979-85. doi: 10.1182/blood-2007-09-110940. Epub 2008 Mar 14.

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 subpopulation 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.

Publication types

  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Deamino Arginine Vasopressin / therapeutic use
  • Europe
  • Half-Life
  • Humans
  • Mutation
  • Predictive Value of Tests
  • Protein Precursors / blood*
  • Survival Analysis
  • Treatment Outcome
  • von Willebrand Diseases / diagnosis*
  • von Willebrand Diseases / mortality*
  • von Willebrand Factor / analysis*

Substances

  • Biomarkers
  • Protein Precursors
  • von Willebrand Factor
  • Deamino Arginine Vasopressin