VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease

Blood. 2013 Mar 21;121(12):2336-9. doi: 10.1182/blood-2012-09-455089. Epub 2013 Jan 24.

Abstract

During posttranslational modifications of von Willebrand factor (VWF), the VWF propeptide (VWFpp) is cleaved. The ratio between VWFpp and VWF antigen (VWF:Ag) and the ratio between factor VIII (FVIII:C) and VWF:Ag may be used to assess synthesis and clearance of VWF. We analyzed the contribution of VWFpp and ratios of VWFpp/VWF:Ag and FVIII:C/VWF:Ag in the pathophysiological characterization of type 1 von Willebrand disease (VWD) in the Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD) study. The VWFpp/VWF:Ag and FVIII:C/VWF:Ag ratios were increased among patients compared with unaffected family members and healthy controls. The VWFpp/VWF:Ag ratio was higher in individuals heterozygous for missense mutations than in those heterozygous for null alleles. In contrast, the FVIII:C/VWF:Ag ratio was highest among heterozygotes for VWF null alleles. The ratios of VWFpp/VWF:Ag and FVIII:C/VWF:Ag indicate that the pathophysiological mechanisms of type 1 VWD include reduced production and accelerated clearance of VWF, but that often a combination of both mechanisms is implicated.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Cohort Studies
  • Factor VIII / analysis*
  • Factor VIII / genetics
  • Family
  • Genetic Carrier Screening
  • Genetic Linkage
  • Humans
  • Mutation / physiology
  • Protein Multimerization
  • Protein Precursors / blood*
  • Protein Precursors / chemistry
  • Protein Precursors / genetics
  • Protein Precursors / metabolism
  • Protein Processing, Post-Translational / genetics
  • von Willebrand Disease, Type 1 / blood*
  • von Willebrand Disease, Type 1 / diagnosis*
  • von Willebrand Disease, Type 1 / genetics
  • von Willebrand Factor / analysis*
  • von Willebrand Factor / chemistry*
  • von Willebrand Factor / genetics
  • von Willebrand Factor / metabolism

Substances

  • Protein Precursors
  • von Willebrand Factor
  • Factor VIII