Platelet-type von willebrand disease: Toward an improved understanding of the sticky situation

Seminars in Thrombosis and Hemostasis

Volumn 40, Issue 2, 2014, Pages 146-150

  Othman, Maha ^a,b   Emsley, Jonas ^c  

^a QUEEN S UNIVERSITY   (Canada)

^b Faculty of Health Sciences   (Canada)

^c UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

THROMBIN RECEPTOR; VON WILLEBRAND FACTOR; ADHESION RECEPTOR;

AMINO ACID SEQUENCE; BINDING KINETICS; CRYSTAL STRUCTURE; DNA DETERMINATION; GENE MUTATION; GENE STRUCTURE; HUMAN; LABORATORY TEST; MOLECULAR DYNAMICS; NONHUMAN; PLATELET TYPE VON WILLEBRAND DISEASE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; REVIEW; THROMBOCYTE; THROMBOCYTE AGGREGATION; VON WILLEBRAND DISEASE; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MISSENSE MUTATION;

FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION, MISSENSE; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; VON WILLEBRAND DISEASES;

EID: 84896713722     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0033-1364182     Document Type: Review

References (33)

1. Woods A. I., Sanchez-Luceros A., Bermejo E., et al. Identification of p.W246L as a novel mutation in the GP1BA gene responsible for platelet-type von Willebrand disease [In Focus Article]. Semin Thromb Hemost: 2014; 40 2 151 160
2. 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 8 780 786
3. Favaloro E. J. 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 nonidentical twins? Or two sides of a multidenominational or multifaceted primary-hemostasis coin? Semin Thromb Hemost: 2008; 34 1 113 127
4. Favaloro E. J. 2B or not 2B? Differential identification of type 2B, versus pseudo-von Willebrand disease. Br J Haematol: 2006; 135 1 141 142, author reply 143
5. Favaloro E. J., Bonar R., Meiring M., Street A., Marsden K.; 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 2 346 358
6. Favaloro E. J., Koutts J. 2B or not 2B? Masquerading as von Willebrand disease? Journal of thrombosis and haemostasis. J Thromb Haemost: 2012; 10 2 317 319
7. Favaloro E. J., Patterson D., Denholm A., et al. Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease (VWD) from Type 2B VWD using a simplified ristocetin-induced-platelet- agglutination mixing assay and confirmed by genetic analysis. Br J Haematol: 2007; 139 4 623 626
8. Giannini S., Cecchetti L., Mezzasoma A. M., Gresele P. Diagnosis of platelet-type von Willebrand disease by flow cytometry. Haematologica: 2010; 95 6 1021 1024
9. Hamilton A., Ozelo M., Leggo J., et al. Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. Thromb Haemost: 2011; 105 3 501 508
10. Rydz N., James P. D. The evolution and value of bleeding assessment tools. J Thromb Haemost: 2012; 10 11 2223 2229
11. Kaur H., Scovil S., McEacern K., James P., Othman M. International systematic study for assessment of bleeding phenotype in platelet type von Willebrand disease. Paper presented at: 26th Congress of the International Society on Thrombosis and Haemostasis; June 29-July 4, 2013; Amsterdam, The Netherlands
12. Othman M., Favaloro E. J. Genetics of type 2B von Willebrand disease: true 2B, tricky 2B, or not 2B. What are the modifiers of the phenotype? Semin Thromb Hemost: 2008; 34 6 520 531
13. Wagner D. D., Fay P. J., Sporn L. A., Sinha S., Lawrence S. O., Marder V. J. Divergent fates of von Willebrand factor and its propolypeptide (von Willebrand antigen II) after secretion from endothelial cells. Proc Natl Acad Sci U S A: 1987; 84 7 1955 1959
14. Haberichter S. L., Budde U., Obser T., Schneppenheim S., Wermes C., Schneppenheim R. The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF. Blood: 2010; 115 22 4580 4587
15. Haberichter S. L., Jacobi P., Montgomery R. R. Critical independent regions in the VWF propeptide and mature VWF that enable normal VWF storage. Blood: 2003; 101 4 1384 1391
16. Montgomery R. R., Zimmerman T. S. von Willebrand's disease antigen II. A new plasma and platelet antigen deficient in severe von Willebrand's disease. J Clin Invest: 1978; 61 6 1498 1507
17. Borchiellini A., Fijnvandraat K., ten Cate J. W., et al. Quantitative analysis of von Willebrand factor propeptide release in vivo: effect of experimental endotoxemia and administration of 1-deamino-8-D-arginine vasopressin in humans. Blood: 1996; 88 8 2951 2958
18. Madabhushi S. R., Shang C., Dayananda K. M., et al. von Willebrand factor (VWF) propeptide binding to VWF D'D3 domain attenuates platelet activation and adhesion. Blood: 2012; 119 20 4769 4778
19. Casonato A., Gallinaro L., Cattini M. G., et al. Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia. Haematologica: 2010; 95 8 1366 1372
20. Othman M. Differential identification of PT-VWD from type 2B VWD and GP1BA nomenclature issues. Br J Haematol: 2008; 142 2 312 314, author reply 314-315
21. Goodeve A. C., Reitsma P. H., McVey J. H.; Working Group on Nomenclature of the Scientific and Standardisation Committee of the International Society on Thrombosis and Haemostasis. Nomenclature of genetic variants in hemostasis. J Thromb Haemost: 2011; 9 4 852 855
22. Miller J. L., Cunningham D., Lyle V. A., Finch C. N. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci U S A: 1991; 88 11 4761 4765
23. Moriki T., Murata M., Kitaguchi T., et al. Expression and functional characterization of an abnormal platelet membrane glycoprotein Ib alpha (Met239 -> Val) reported in patients with platelet-type von Willebrand disease. Blood: 1997; 90 2 698 705
24. Matsubara Y., Murata M., Sugita K., Ikeda Y. Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von brand disease. J Thromb Haemost: 2003; 1 10 2198 2205
25. Enayat S., Ravanbod S., Rassoulzadegan M., et al. A novel D235Y mutation in the GP1BA gene enhances platelet interaction with von Willebrand factor in an Iranian family with platelet-type von Willebrand disease. Thromb Haemost: 2012; 108 5 946 954
26. Othman M., Notley C., Lavender F. L., et al. Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease. Blood: 2005; 105 11 4330 4336
27. Uff S., Clemetson J. M., Harrison T., Clemetson K. J., Emsley J. Crystal structure of the platelet glycoprotein Ib(alpha) N-terminal domain reveals an unmasking mechanism for receptor activation. J Biol Chem: 2002; 277 38 35657 35663
28. Dumas J. J., Kumar R., McDonagh T., et al. Crystal structure of the wild-type von Willebrand factor A1-glycoprotein Ibalpha complex reveals conformation differences with a complex bearing von Willebrand disease mutations. J Biol Chem: 2004; 279 22 23327 23334
29. Huizinga E. G., Tsuji S., Romijn R. A., et al. Structures of glycoprotein Ibalpha and its complex with von Willebrand factor A1 domain. Science: 2002; 297 5584 1176 1179
30. Dong J., Schade A. J., Romo G. M., et al. Novel gain-of-function mutations of platelet glycoprotein IBalpha by valine mutagenesis in the Cys209-Cys248 disulfide loop. Functional analysis under statis and dynamic conditions. J Biol Chem: 2000; 275 36 27663 27670
31. Murata M., Russell S. R., Ruggeri Z. M., Ware J. Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. J Clin Invest: 1993; 91 5 2133 2137
32. Nurden P., Lanza F., Bonnafous-Faurie C., Nurden A. A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. Thromb Haemost: 2007; 97 2 319 321
33. Takahashi H., Nagayama R., Hattori A., Ihzumi T., Tsukada T., Shibata A. Von Willebrand disease associated with familial thrombocytopenia and increased ristocetin-induced platelet aggregation. Am J Hematol: 1981; 10 1 89 99