Type 2B-like von Willebrand disease: A creative approach to a difficult diagnosis

Alessandra Casonato; Francesca Sartorello; Elena Pontara; Lisa Gallinaro; Maria Grazia Cattini

doi:10.1160/TH08-01-0060

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2008; 99(03): 632-633
DOI: 10.1160/TH08-01-0060

Letters to the Editor

Schattauer GmbH

Type 2B-like von Willebrand disease: A creative approach to a difficult diagnosis

Alessandra Casonato

¹Department of Medical and Surgical Sciences, Medical School, University of Padua, Padua, Italy

,

Francesca Sartorello

¹Department of Medical and Surgical Sciences, Medical School, University of Padua, Padua, Italy

,

Elena Pontara

¹Department of Medical and Surgical Sciences, Medical School, University of Padua, Padua, Italy

,

Lisa Gallinaro

¹Department of Medical and Surgical Sciences, Medical School, University of Padua, Padua, Italy

,

Maria Grazia Cattini

¹Department of Medical and Surgical Sciences, Medical School, University of Padua, Padua, Italy

› Author Affiliations

Abstract

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References

References
1 Casonato A, Sartorello F, Pontara E. et al. A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis. Thromb Haemost 2007; 98: 1182-1187.
2 Casonato A, Pontara E, Bertomoro A. et al. Von Willebrand factor collagen binding activity in the diagnosis of von Willebrand disease: an alternative to ristocetin co-factor activity?. Brit J Haematol 2001; 112: 578-583.
3 Favaloro EJ, Bonar R, Meiring M. et al. ; on behalf of the RCPA QAP in Haematology. 2B or not 2B? Disparate discrimination of functional VWF discordance using different assay panels or methodologies may leadto success or failure in the early identification of type 2B VWD. Thromb Haemost 2007; 98: 346-358.
4 Quiroga T, Goyoolea M, Panes O. et al. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. Prospective study of 280 patients and 299 controls. Haematologica 2007; 92: 292-296.
5 Casonato A, De Marco L, Mazzuccato M. et al. A new congenital platelet abnormality characterized by spontaneous platelet aggregation, enhanced von Willebrand factor platelet interaction and the presence of all von Willebrand factor multimers in plasma. Blood 1989; 74: 2028-2033.
6 Nishio K, Anderson PJ, Zheng XL. et al. Binding of platelet glycoprotein Ib alpha to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS-13. Proc Natl Acad Sci USA 2004; 101: 10578-10583.
7 Rayes J, Hommais A, Legendre P. et al. Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13. J Thromb Haemost 2006; 5: 321-328.
8 Casonato A, Steffan A, Pontara E. et al. Post- DDAVP thrombocytopenia in type 2B von Willebrand disease is not associated with platelet consumption: failure to demonstrate glycocalicin increase or platelet activation. Thromb Haemost 1999; 81: 224-228.