Management of an uncommon form of type 2M VWD: a single centre experience

1. Schneppenheim R, Budde U. von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein. J Thromb Haemost 2011; 9 Suppl 1: 209-15; doi: 10.1111/j.1538-7836.2011.04324.x.Search in Google Scholar

2. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand’s disease. Blood 1987; 69: 454-9.10.1182/blood.V69.2.454.454Search in Google Scholar

3. Werner EJ, Broxson EH, Tucker EL, et al. Prevalence of von Willebrand disease in children: a multi-ethnic study. J Pediatr 1993; 123: 893-8.10.1016/S0022-3476(05)80384-1Search in Google Scholar

4. Laffan MA, Lester W, O’Donnell JS, et al. The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology. Br J Haematol 2014; 167: 453-65; doi: 10.1111/bjh.13064.Search in Google Scholar

5. University of Sheffield. von Willebrand factor Variant Database (VWFdb). Available from: www.vwf.group.shef.ac.uk/ (accessed 21 November 2011).Search in Google Scholar

6. Flood VH, Schlauderaff AC, Haberichter SL, et al. The crucial role for the VWFA1 domain in binding to type IV collagen. Blood 2015; 125: 2297-304; doi: 10.1182/blood-2014-11-610824.Search in Google Scholar

7. Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006; 4: 766-73.10.1111/j.1538-7836.2006.01847.x16634745Search in Google Scholar

8. Keeling D, Beavis J, Marr R, et al. A family with type 2M VWD with normal VWF:RCo but reduced VWF:CB and a M1761K mutation in the A3 domain. Haemophilia 2012; 18:e33; doi: 10.1111/j.1365-2516.2011.02676.x.Search in Google Scholar

9. Rodeghiero F, Castaman G, Tosetto A. How I treat von Willebrand disease. Blood 2009; 114: 1158-65; doi: 10.1182/blood-2009-01-153296.Search in Google Scholar

10. Federici AB. The use of desmopressin in von Willebrand disease: the experience of the first 30 years (1977-2007). Haemophilia 2008; 14(Suppl 1): 5-14; doi: 10.1111/j.1365-2516.2007.01610.x.Search in Google Scholar

11. Favaloro EJ. Von Willebrand factor collagen-binding (activity) assay in the diagnosis of von Willebrand disease: A 15-year journey. Semin Thromb Hemost 2002; 28: 191-202.10.1055/s-2002-2782111992242Open DOISearch in Google Scholar

12. Lankhof H, van Hoeij M, Schiphorst ME, et al. A3 domain is essential for interaction of von Willebrand factor with collagen type III. Thromb Haemost 1996; 75: 950-8.10.1055/s-0038-1650400Search in Google Scholar

13. Denis C, Baruch D, Kielty CM, et al. Localization of von Willebrand factor binding domains to endothelial extracellular matrix and to type VI collagen. Arterioscler Thromb 1993; 13: 398-406.10.1161/01.ATV.13.3.3988443144Open DOISearch in Google Scholar

14. Bonnefoy A, Romijn RA, Vandervoort PA, et al. von Willebrand factor A1 domain can adequately substitute for A3 domain in recruitment of flowing platelets to collagen. J Thromb Haemost 2006; 4:2151-61.10.1111/j.1538-7836.2006.02111.x16805860Open DOISearch in Google Scholar

15. Riddell AF, Gomez K, Millar CM, et al. Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor. Blood 2009; 114: 3489-96; doi: 10.1182/blood-2008-10-184317.Search in Google Scholar

16. Sadler JE, Budde U, Eikenboom JC, et al. Working Party own von illebrand Disease Classification. Update on the pathophysiology and lassification of von Willebrand disease: a report of the Subcommittee on on Willebrand Factor. J Thromb Haemost 2006; 4: 2103-14.10.1111/j.1538-7836.2006.02146.x16889557Open DOISearch in Google Scholar

17. Ribba AS, Loisel I, Lavergne JM, et al. Ser968Thr mutation within the 3 domain of von Willebrand factor (VWF) in two related patients leads o a defective binding of VWF to collagen. Thromb Haemost 2001; 86: 848-54.10.1055/s-0037-1616142Search in Google Scholar

18. Flood VH, Lederman CA, Wren JS, et al. Absent collagen binding in VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD. J hromb Haemost 2010; 8: 1431-3; doi: 10.1111/j.1538-7836.2010.03869.x.Search in Google Scholar