Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

J Inherit Metab Dis. 2005;28(6):945-50. doi: 10.1007/s10545-005-0184-9.

Abstract

Despite highly increased blood lipids, patients with glycogen storage disease type Ia (GSD Ia) do not develop premature vascular complications. Since this could be due to changes of coagulation factors, coagulation tests (including von Willebrand factor (VWF) antigen (VWF:Ag) ELISA, VWF:collagen binding activity (VWF:CB) and VWF multimer analysis) were performed in 10 GSD Ia patients, single cases of other GSD types, and in both healthy and hyperlipidaemic controls. In 60% of GSD Ia patients we found abnormal results, with a decrease of VWF:Ag and multimer analysis showing reduced intensity of individual oligomers in the presence of all multimers with a normal triplet structure. We interpret these findings as an acquired 'von Willebrand syndrome type I' in GSD Ia. The underlying metabolic mechanism and a potential role in the protection from vascular complication still needs to be evaluated.

MeSH terms

  • Adolescent
  • Adult
  • Antigens / blood*
  • Blood Coagulation
  • Blood Coagulation Tests
  • Blood Platelets / metabolism
  • Child
  • Child, Preschool
  • Enzyme-Linked Immunosorbent Assay
  • Female
  • Genotype
  • Glycogen Storage Disease Type I / blood*
  • Glycogen Storage Disease Type I / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Infant
  • Male
  • Protein Structure, Tertiary
  • von Willebrand Factor / immunology

Substances

  • Antigens
  • Von Willebrand antigen
  • von Willebrand Factor