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Response to DDAVP in children with von Willebrand disease type 2.

AbstractUNLABELLED:
We have prospectively evaluated the biologic response to desmopressin (DDAVP) in 28 children with type 2 von Willebrand disease (VWD) in correlation with the phenotype and the molecular defect of VWF. The diagnosis of VWD type 2 was mainly based on VWF functional parameters and/or an aberrant VWF multimer pattern. Seventeen different mutations were identified (6 of them novel). No response with respect to the functional parameters VWF:RCo and/or VWF:CB was seen in patients with severe abnormality of the VWF multimer pattern. One patient with VWD type 2A phenotype IIC Miami did not respond with respect to VWF:CB, but showed a good response of VWF:Ag and FVIII:C as expected. Interestingly he showed a persistently high level of VWF:Ag and FVIII:C up to 4 hours after DDAVP infusion. Patients with minor alterations of multimer structure and particular mutations responded well to DDAVP, whereas patients with normal multimer structure but a defect in platelet dependent functional parameters did not respond with VWF:RCo.
CONCLUSION:
Children with VWD type 2 show a variable response to desmopressin depending on the mutation that correlates with the functional defect and the presence or absence as well as the half-life of large VWF multimers. Our data emphasize the usefulness of DDAVP testing even in patients with VWD type 2, possibly with the exception of VWD type 2B.
AuthorsReinhard Schneppenheim, U Budde, Karin Beutel, W-A Hassenpflug, H Hauch, T Obser, F Oyen, S Schneppenheim, J Schrum
JournalHamostaseologie (Hamostaseologie) Vol. 29 Issue 2 Pg. 143-8 (May 2009) ISSN: 0720-9355 [Print] Germany
PMID19404524 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Hemostatics
  • von Willebrand Factor
  • Deamino Arginine Vasopressin
Topics
  • Child
  • Deamino Arginine Vasopressin (therapeutic use)
  • Hemostatics (therapeutic use)
  • Humans
  • Mutation
  • Phenotype
  • von Willebrand Diseases (drug therapy, genetics)
  • von Willebrand Factor (genetics)

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