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

Abstract

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.

• Authors: Mohammad S Enayat, Andrea M Guilliatt, William Lester, Jonathan T Wilde, Michael D Williams, Frank G H Hill
• Journal: British journal of haematology (Br J Haematol) Vol. 133 Issue 6 Pg. 664-6 (Jun 2006) ISSN: 0007-1048 [Print] England
• PMID: 16704444 (Publication Type: Journal Article)

Chemical References

• Platelet Glycoprotein GPIb-IX Complex

Topics

• 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, diagnosis, genetics)