Subscribe to RSS
Please copy the URL and add it into your RSS Feed Reader.
https://www.thieme-connect.de/rss/thieme/en/10.1055-s-00035024.xml
Download PDF
Thromb Haemost 2008; 99(03): 630-631
DOI: 10.1160/TH07-12-0758
DOI: 10.1160/TH07-12-0758
Letters to the Editor
von Willebrand disease, type 2B: A diagnosis more elusive than previously thought
Further Information
Publication History
Received: 28 December 2007
Accepted after major revision: 13 January 2008
Publication Date:
07 December 2017 (online)
-
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, De Marco L, Gallinaro L. et al. Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain. Thromb Haemost 2007; 97: 527-533.
- 3 Sadler JE, Budde U, Eikenboom JCJ. et al. and the Working Party on von Willebrand Disease Classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006; 4: 2103-2114.
- 4 Othman M. Platelet Type-von Willebrand disease and Type 2B von Willebrand disease: A story of nonidentical twins when two different genetic abnormalities evolve into similar phenotypes. Semin Thromb Hemost 2007; 33: 780-786.
- 5 Favaloro EJ. Phenotypic identification of Platelet Type-von Willebrand disease and its discrimination from Type 2B von Willebrand disease: A question of 2B or not 2B? A story of non-identical twins? Or two-sides of a multi-denominational or multi-faceted primary haemostasis coin? Semin Thromb Hemost. 2008 34. in press.
- 6 Favaloro EJ, Patterson D, Denholm A. et al. Differential identification of a rare form of platelet-type(pseudo-) von Willebrand disease from Type 2B VWD using a simplified ristocetin-induced-platelet-agglutination (RIPA) mixing assay and confirmed by genetic analysis. Br J Haematol 2007; 139: 623-626.
- 7 Nurden P, Lanza F, Bonnafous-Faurie C. et al. A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. Thromb Haemost 2007; 97: 319-321.
- 8 Favaloro EJ. Laboratory identification of von Willebrand Disease: Technical and scientific perspectives. Semin Thromb Hemost 2006; 32: 456-471.
- 9 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 lead to success or failure in the early identification of Type 2B VWD. Thromb Haemost 2007; 98: 346-358.
- 10 Szántó T, Schlammadinger A, Salles I. et al. Type 2B von Willebrand disease in seven individuals from three different families: phenotypic and genotypic characterization. Thromb Haemost 2007; 98: 251-254.
- 11 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?. Br J Haematol 2001; 112: 578-583.
- 12 Favaloro EJ. von Willebrand factor (VWF) collagen binding (activity) assay (VWF:CBA) in the diagnosis of von Willebrand’s disorder (VWD): A 15-year journey. Semin Thromb Hemost 2002; 28: 191-202.
- 13 Favaloro EJ. An update on the von Willebrand factor collagen binding assay: 21 years of age and beyond adolescence but not yet a mature adult. Semin Thromb Hemost 2007; 33: 727-744.
- 14 Quiroga T, Goycoolea M, Panes O, Aranda E, Martínez C, Belmont S, Muñoz B, Zúñiga P, Pereira J, Mezzano D. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. Prospective study of 280 patients and 299 controls. Haematologica 2007; 92: 356-364.
- 15 Favaloro EJ. Investigating people with mucocutaneous bleeding suggestive of primary haemostatic defects: Low likelihood of definitive diagnosis?. Haematologica 2007; 92: 292-296.
- 16 Favaloro EJ. Sulfatide-binding assay for von Willebrand factor: Detection of von Willebrands disease without discrimination of VWD subtypes. Thromb Res 2000; 98: 213-219.
- 17 Favaloro EJ. The utility of the PFA-100 in identification of von Willebrand Disease: A concise review. Semin Thromb Hemost 2006; 32: 537-545.
- 18 Stakiw J, Bowman M, Hegadorn C. et al. The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease. J Thromb Haemost 2007; 6: 90-96.