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Blood, 15 November 2006, Vol. 108, No. 10, pp. 3344-3351. Prepublished online as a Blood First Edition Paper on July 11, 2006; DOI 10.1182/blood-2006-04-015065. This Article Full Text Full Text (PDF) All Versions of this Article: blood-2006-04-015065v1 108/10/3344    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 Haberichter, S. L. Articles by Montgomery, R. R. Search for Related Content PubMed PubMed Citation Articles by Haberichter, S. L. Articles by Montgomery, R. R. Related Collections Cell Adhesion and Motility Free Research Articles Clinical Trials and Observations Hemostasis, Thrombosis, and Vascular Biology Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival Sandra L. Haberichter, Michael Balistreri, Pamela Christopherson, Patricia Morateck, Stefana Gavazova, Daniel B. Bellissimo, Marilyn J. Manco-Johnson, Joan Cox Gill, and Robert R. Montgomery From the Department of Pediatrics, Medical College of Wisconsin, Milwaukee; the Blood Research Institute, BloodCenter of Wisconsin, Milwaukee; Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee; and the University of Colorado–Denver and the Health Sciences Center. Type 1 von Willebrand disease (VWD) is characterized by a partial quantitative deficiency of von Willebrand factor (VWF). Few VWF gene mutations have been identified that cause dominant type 1 VWD. The decreased survival of VWF in plasma has recently been identified as a novel mechanism for type 1 VWD. We report 4 families with moderately severe type 1 VWD characterized by low plasma VWF:Ag and FVIII:C levels, proportionately low VWF:RCo, and dominant inheritance. A decreased survival of VWF in affected individuals was identified with VWF half-lives of 1 to 3 hours, whereas the half-life of VWF propeptide (VWFpp) was normal. DNA sequencing revealed a single (heterozygous) VWF mutation in affected individuals, S2179F in 2 families, and W1144G in 2 families, neither of which has been previously reported. We show that the ratio of steady-state plasma VWFpp to VWF:Ag can be used to identify patients with a shortened VWF half-life. An increased ratio distinguished affected from unaffected individuals in all families. A significantly increased VWFpp/VWF:Ag ratio together with reduced VWF:Ag may indicate the presence of a true genetic defect and decreased VWF survival phenotype. This phenotype may require an altered clinical therapeutic approach, and we propose to refer to this phenotype as type-1C VWD. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: VWF propeptide: a useful marker in VWD Augusto B. Federici Blood 2006 108: 3229-3230. [Full Text] [PDF] This article has been cited by other articles: B. Zhang, M. Spreafico, C. Zheng, A. Yang, P. Platzer, M. U. Callaghan, Z. Avci, N. Ozbek, J. Mahlangu, T. Haw, et al. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII Blood, June 15, 2008; 111(12): 5592 - 5600. [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] G. Castaman, S. Lethagen, A. B. Federici, A. Tosetto, A. Goodeve, U. Budde, J. Batlle, D. Meyer, C. Mazurier, E. Fressinaud, et al. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD Blood, April 1, 2008; 111(7): 3531 - 3539. [Abstract] [Full Text] [PDF] L. Gallinaro, M. G. Cattini, M. Sztukowska, R. Padrini, F. Sartorello, E. Pontara, A. Bertomoro, V. Daidone, A. Pagnan, and A. Casonato A shorter von Willebrand factor survival in O blood group subjects explains how ABO determinants influence plasma von Willebrand factor Blood, April 1, 2008; 111(7): 3540 - 3545. [Abstract] [Full Text] [PDF] C. J. M. van Schooten, C. V. Denis, T. Lisman, J. C. J. Eikenboom, F. W. Leebeek, J. Goudemand, E. Fressinaud, H. M. van den Berg, P. G. de Groot, and P. J. Lenting Variations in glycosylation of von Willebrand factor with O-linked sialylated T antigen are associated with its plasma levels Blood, March 15, 2007; 109(6): 2430 - 2437. [Abstract] [Full Text] [PDF]

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