Abstract | UNLABELLED: 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.
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Authors | Reinhard Schneppenheim, U Budde, Karin Beutel, W-A Hassenpflug, H Hauch, T Obser, F Oyen, S Schneppenheim, J Schrum |
Journal | Hamostaseologie
(Hamostaseologie)
Vol. 29
Issue 2
Pg. 143-8
(May 2009)
ISSN: 0720-9355 [Print] Germany |
PMID | 19404524
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Hemostatics
- von Willebrand Factor
- Deamino Arginine Vasopressin
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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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