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Comparative Study
. 2007 Jan 1;109(1):112-21.
doi: 10.1182/blood-2006-05-020784. Epub 2006 Sep 19.

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)

Anne Goodeve  1 , Jeroen Eikenboom, Giancarlo Castaman, Francesco Rodeghiero, Augusto B Federici, Javier Batlle, Dominique Meyer, Claudine Mazurier, Jenny Goudemand, Reinhard Schneppenheim, Ulrich Budde, Jorgen Ingerslev, David Habart, Zdena Vorlova, Lars Holmberg, Stefan Lethagen, John Pasi, Frank Hill, Mohammad Hashemi Soteh, Luciano Baronciani, Christer Hallden, Andrea Guilliatt, Will Lester, Ian Peake
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Free article
Comparative Study

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)

Anne Goodeve et al. Blood. .
Free article

Erratum in

  • Blood. 2008 Mar 15;111(6):3299-300

Abstract

Type 1 von Willebrand disease (VWD) is characterized by a personal and family history of bleeding coincident with reduced levels of normal plasma von Willebrand factor (VWF). The molecular basis of the disorder is poorly understood. The aims of this study were to determine phenotype and genotype and their relationship in patients historically diagnosed with type 1 VWD. Families were recruited in 9 European countries based on previous type 1 VWD diagnosis. Bleeding symptoms were recorded, plasma phenotype analyzed, and VWF mutation analysis performed in all index cases (ICs). Phenotypic and molecular analysis stratified patients into those with or without phenotypes suggestive of qualitative VWF defects (abnormal multimers) and with or without mutations. A total of 105 of 150 ICs (70%) had mutations identified. A subgroup with abnormal multimers (38% of ICs, 57 of 150) showed a high prevalence of VWF gene mutations (95% of ICs, 54 of 57), whereas in those with qualitatively normal VWF, fewer mutations were identified (55% of ICs, 51 of 93). About one third of the type 1 VWD cases recruited could be reconsidered as type 2. The remaining group could be considered "true" type 1 VWD, although mutations were found in only 55%.

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