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Blood, 1 April 2008, Vol. 111, No. 7, pp. 3531-3539. Prepublished online as a Blood First Edition Paper on January 29, 2008; DOI 10.1182/blood-2007-08-109231. This Article Full Text (PDF) Supplemental Appendix All Versions of this Article: blood-2007-08-109231v1 111/7/3531    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Castaman, G. Articles by Rodeghiero, F. Search for Related Content PubMed PubMed Citation Articles by Castaman, G. Articles by Rodeghiero, F. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted August 27, 2007 Accepted January 8, 2008 Response to desmopressin is influenced by the genotype and phenotype in type 1 Von Willebrand Disease (VWD): results from the European study MCMDM-1VWD Giancarlo Castaman*, Stefan Lethagen, Augusto B. Federici, Alberto Tosetto, Anne Goodeve, Ulrich Budde, Javier Batlle, Dominique Meyer, Claudine Mazurier, Edith Fressinaud, Jenny Goudemand, Jeroen Eikenboom, Reinhard Schneppenheim, Jorgen Ingerslev, Zdena Vorlova, David Habart, Lars Holmberg, John Pasi, Frank Hill, Ian Peake, and Francesco Rodeghiero Department of Hematology, San Bortolo Hospital, Vicenza, Italy Department for Coagulation Disorders, University of Lund, Malmo, Sweden Hemophilia and Thrombosis Centre, Foundation IRCCS MAggiore Policlinico Hospital, Mangiagalli Regina Elena and University of Milan, Milan, Italy The Academic Unit of Haematology, University of Sheffield, Sheffield, United Kingdom Coagulation Laboratory, Hamburg, Germany Servicio de Hematologia y Hemoterapia, Hospital Teresa Herrera, La Coruna, Spain Institut National de la Sante et de la Recherche Medicale, INSERM U143, Paris, France Laboratoire Francais du Fractionnement et des Biotechnologies, Lille, France INSERM, Nantes, France Department of Hematology, Univeristy of Lille, Lille, France Department of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, Netherlands Department of Pediatric Hematology and Oncology, Univeristy Medical Center Hamburg-Eppendorf, Hamburg, Germany Centre for Hemophilia and Thrombosis, University Hospital Skejby, Aarhus, Denmark Institute of Hematology and Blood Transfusion, Prague, Czech Republic Department of Pediatrics, University of Lund, Lund, Sweden Department of Pathology, Leicester Royal Infirmary, Leicester, United Kingdom Department of Hematology, Children's Hospital, Birmingham, United Kingdom * Corresponding author; email: castaman{at}hemato.ven.it. We have prospectively evaluated the biologic response to desmopressin in 77 patients with type 1 von Willebrand disease (VWD) enrolled within the Molecular and Clinical Markers for the Diagnosis and Management of type 1 VWD project. Complete response to desmopressin was defined as an increase of both ristocetin cofactor activity (VWF:RCo) and factor VIII coagulant activity (FVIII:C) to 50 IU/dL and partial response as VWF:RCo or FVIII:C < 50 IU/dL post-infusion, but at least 3-fold the basal level. Complete response was observed in 83 % of patients, partial in 13% and no response in 4%. Patients with some abnormality of VWF multimeric pattern had significantly lower basal FVIII:C and VWF, lower VWF:RCo/Ag ratio and less complete responses to desmopressin than patients with a normal multimeric pattern (P=0.002). Patients with mutations at codons 1130 and 1205 in the D'-D3 domain had the greatest relative increase, but shortest FVIII and VWF half-lives post-infusion. Most partial and non-responsive patients had mutations in the A1-A3 domains. Response to desmopressin in these VWD patients seemed to be associated with the location of the causative mutation. The presence of subtle multimeric abnormalities did not hamper potential clinically useful responses, as in typical type 1 VWD. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. Dunois-Larde, C. Capron, S. Fichelson, T. Bauer, E. Cramer-Borde, and D. Baruch Exposure of human megakaryocytes to high shear rates accelerates platelet production Blood, August 27, 2009; 114(9): 1875 - 1883. [Abstract] [Full Text] [PDF] F. Rodeghiero, G. Castaman, and A. Tosetto How I treat von Willebrand disease Blood, August 6, 2009; 114(6): 1158 - 1165. [Abstract] [Full Text] [PDF] S. F. De Meyer, H. Deckmyn, and K. Vanhoorelbeke von Willebrand factor to the rescue Blood, May 21, 2009; 113(21): 5049 - 5057. [Abstract] [Full Text] [PDF] A. B Federici and M. T. Canciani Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease Haematologica, May 1, 2009; 94(5): 610 - 615. [Full Text] [PDF] A. Perez-Rodriguez, A. Garcia-Rivero, E. Loures, M. F. Lopez-Fernandez, A. Rodriguez-Trillo, and J. Batlle Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications Haematologica, May 1, 2009; 94(5): 679 - 686. [Abstract] [Full Text] [PDF] S. L. Haberichter, G. Castaman, U. Budde, I. Peake, A. Goodeve, F. Rodeghiero, A. B. Federici, J. Batlle, D. Meyer, C. Mazurier, et al. Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: Molecular and Clinical Markers for the Diagnosis and Management of Type 1 VWD (MCMDM-1VWD) Blood, May 15, 2008; 111(10): 4979 - 4985. [Abstract] [Full Text] [PDF]

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