Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance

Br J Haematol. 2006 Jun;133(6):664-6. doi: 10.1111/j.1365-2141.2006.06078.x.


Pseudo-von Willebrand disease (p-VWD) and type 2B von Willebrand disease (VWD) have similar phenotypic parameters and clinical symptoms, but different aetiologies. Fourteen individuals from five families with a historical diagnosis of type 2B VWD but with no mutation in the von Willebrand factor gene were re-investigated for the possibility of p-VWD, using platelet aggregation in the presence of cryoprecipitate. p-VWD was confirmed by targeted DNA sequencing of the glycoprotein Ibalpha gene, identifying a heterozygous Glycine 233 Valine substitution. This study suggests that p-VWD may be under diagnosed, and that platelet aggregation in the presence of cryoprecipitate is useful in differentiating this disorder from type 2B VWD.

MeSH terms

  • DNA Mutational Analysis / methods
  • Diagnosis, Differential
  • Female
  • Genotype
  • Humans
  • Male
  • Mutation
  • Phenotype
  • Platelet Aggregation
  • Platelet Count
  • Platelet Glycoprotein GPIb-IX Complex / genetics
  • von Willebrand Diseases / blood
  • von Willebrand Diseases / diagnosis*
  • von Willebrand Diseases / genetics


  • Platelet Glycoprotein GPIb-IX Complex