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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 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 Citation Map 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. Related Collections Hemostasis, Thrombosis, and Vascular Biology Free Research Articles Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY 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 Castaman1, Stefan Lethagen2, Augusto B. Federici3, Alberto Tosetto1, Anne Goodeve4, Ulrich Budde5, Javier Batlle6, Dominique Meyer7, Claudine Mazurier8, Edith Fressinaud9, Jenny Goudemand10, Jeroen Eikenboom11, Reinhard Schneppenheim12, Jorgen Ingerslev13, Zdena Vorlova14, David Habart14, Lars Holmberg15, John Pasi16, Frank Hill17, Ian Peake4, and Francesco Rodeghiero1 1 Department of Hematology, San Bortolo Hospital, Vicenza, Italy; 2 Department for Coagulation Disorders, University of Lund, Malmö, Sweden and Center for Hemostasis and Thrombosis, Copenhagen University Hospital, Copenhagen, Denmark; 3 Hemophilia and Thrombosis Centre, Foundation Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Maggiore Policlinico Hospital, Mangiagalli Regina Elena and University of Milan, Milan, Italy; 4 The Academic Unit of Haematology, University of Sheffield, Sheffield, United Kingdom; 5 Coagulation Laboratory, Hamburg, Germany; 6 Servicio de Hematologia y Hemoterapia, Hospital Teresa Herrera, La Coruna, Spain; 7 Institut National de la Santè et de la Recherche Médicale, Inserm U143, Paris, France; 8 Laboratoire Français du Fractionnement et des Biotechnologies, Lille, France; 9 Inserm, Nantes, France; 10 University of Lille, Lille, France; 11 Department of Thrombosis and Hemostasis, Leiden University Medical Center, Leiden, The Netherlands; 12 University Medical Center Hamburg-Eppendorf, Department of Pediatric Hematology and Oncology, Hamburg, Germany; 13 Centre for Hemophilia and Thrombosis, University Hospital Skejby, Aarhus, Denmark; 14 Institute of Hematology and Blood Transfusion, Prague, Czech Republic; 15 Department of Pediatrics, University of Lund, Lund, Sweden; 16 Department of Pathology, Leicester Royal Infirmary, Leicester, United Kingdom; and 17 Department of Hematology, Children's Hospital, Birmingham, United Kingdom 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 or higher and partial response as VWF:RCo or FVIII:C lower than 50 IU/dL after 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 = .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 after infusion. Most partial and nonresponsive 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: 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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