Details

Autor(en) / Beteiligte

• Enayat, Mohammad S
• Guilliatt, Andrea M
• Lester, William
• Wilde, Jonathan T
• Williams, Michael D
• Hill, Frank GH

Titel

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

Ist Teil von

• British journal of haematology, 2006-06, Vol.133 (6), p.664-666

Erscheinungsjahr

2006

Link zum Volltext

Quelle

Wiley Online Library

Beschreibungen/Notizen

• 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 Iba 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.