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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)

Goodeve, Anne; Eikenboom, Jeroen; Castaman, Giancarlo; Rodeghiero, Francesco; Federici, Augusto B.; Batlle, Javier; Meyer, Dominique; Mazurier, Claudine; Goudemand, Jenny and Schneppenheim, Reinhard, et al. (2007) In Blood 109(1). p.112-121
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... (More)
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 I 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%. (Less)
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Blood
volume
109
issue
1
pages
112 - 121
publisher
American Society of Hematology
external identifiers
  • wos:000243153900028
  • scopus:33845967766
ISSN
1528-0020
DOI
10.1182/blood-2006-05-020784
language
English
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yes
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476fc548-6602-42a6-9527-e68a3e33b311 (old id 680375)
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2007-12-07 12:33:26
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2017-11-05 03:33:14
@article{476fc548-6602-42a6-9527-e68a3e33b311,
  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 I 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%.},
  author       = {Goodeve, Anne and Eikenboom, Jeroen and Castaman, Giancarlo and Rodeghiero, Francesco and Federici, Augusto B. and Batlle, Javier and Meyer, Dominique and Mazurier, Claudine and Goudemand, Jenny and Schneppenheim, Reinhard and Budde, Ulrich and Ingerslev, Jorgen and Habart, David and Vorlova, Zdena and Holmberg, Lars and Lethagen, Stefan and Pasi, John and Hill, Frank and Soteh, Mohammad Hashemi and Baronciani, Luciano and Halldén, Christer and Guilliatt, Andrea and Lester, Will and Peake, Ian},
  issn         = {1528-0020},
  language     = {eng},
  number       = {1},
  pages        = {112--121},
  publisher    = {American Society of Hematology},
  series       = {Blood},
  title        = {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)},
  url          = {http://dx.doi.org/10.1182/blood-2006-05-020784},
  volume       = {109},
  year         = {2007},
}