Type 1 von Willebrand disease due to reduced von Willebrand factor synthesis and/or survival: observations from a case series

Translational Research

Volumn 155, Issue 4, 2010, Pages 200-208

  Casonato, Alessandra ^a   Gallinaro, Lisa ^a   Cattini, Maria Grazia ^a   Sartorello, Francesca ^a   Pontara, Elena ^a   Padrini, Roberto ^a   Bertomoro, Antonella ^a   Daidone, Viviana ^a   Pagnan, Antonio ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DESMOPRESSIN; VON WILLEBRAND FACTOR;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; FEMALE; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SURVIVAL RATE; VON WILLEBRAND DISEASE;

EID: 77949482047     PISSN: 19315244     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.trsl.2009.12.003     Document Type: Article

References (32)

1. Sadler J.E., Budde U., Eikenboom J.C., et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand factor. The Working Party on von Willebrand disease classification. J Thromb Haemost 4 (2006) 2103-2114
2. Ruggeri Z.M. Von Willebrand factor: looking back and looking forward. Thromb Haemost 98 (2007) 55-62
3. Turitto V.T., Weiss H.J., Zimmerman T.S., and Sussman II. Factor VIII/von Willebrand factor in subendothelium mediates platelet adhesion. Blood 65 (1985) 823-831
4. Sadler J.E. Biochemistry and genetics of von Willebrand factor. Ann Rev Biochem 67 (1998) 395-425
5. Wagner D.D. Cell biology of von Willebrand factor. Ann Rev Cell Biol 6 (1990) 217-246
6. Ruggeri Z.M., Pareti F.I., Mannucci P.M., Ciavarella N., and Zimmerman T.S. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand disease. N Engl J Med 302 (1980) 1047-1051
7. Mayadas T.S., and Wagner D.D. Vicinal cysteines in the prosequence play a role in von Willebrand factor multimer assembly. Proc Natl Acad Sci U S A 89 (1992) 3531-3535
8. Montgomery R.R., and 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 61 (1978) 1498-1507
9. Wagner D.D., Oemsted J.B., and Marder V.J. Immunolocalization of von Willebrand factor protein in Weibel-palade bodies of human endothelial cells. J Cell Biol 95 (1982) 355-367
10. van Mourik J.A., Boertjes R., Huisveld I.A., et al. Von Willebrand factor propeptide in vascular disorders: a tool to distinguish between acute and chronic endothelial cell perturbation. Blood 94 (1999) 179-185
11. 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-desamino-8-D-arginine vasopressin in humans. Blood 88 (1996) 2951-2958
12. Haberichter S.L., Balistreri M., Christopherson P., et al. Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival. Blood 108 (2006) 3344-3351
13. Haberichter S.L., Castaman G., Budde U., et al. Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD). Blood 111 (2008) 4979-4985
14. Sztukowska M., Gallinaro L., Cattini M.G., et al. Von Willebrand factor propeptide makes it easy to identify the shorter von Willebrand factor survival in patients with type 1 and type Vicenza von Willebrand disease. Brit J Haematol 143 (2008) 107-114
15. Peake I., and Goodeve A. Type 1 von Willebrand disease. J Thromb Haemosts 5 (2007) 7-11
16. Sadler J.E. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood 101 (2003) 2089-2093
17. Ruggeri Z.M., and Zimmerman T.S. Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. J Clin Invest 65 (1980) 1318-1325
18. Casonato A., Pontara E., Sartorello F., et al. Reduced von Willebrand factor survival in type Vicenza von Willebrand disease. Blood 99 (2002) 180-184
19. Brown S.A., Eldrige A., Collins P.W., and Bowen D.J. Increased clearance of von Willebrand factor in type 1 von Willebrand disease: is it a potential pathogenetic process?. J Thromb Haemost 1 (2003) 1714-1717
20. Castaman G., Lethagen S., Federici A.B., et al. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. Blood 111 (2008) 3531-3539
21. Sadler J.E. A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 71 (1994) 520-525
22. Casonato A., Pontara E., Bertomoro A., Sartorello F., Cattini M.G., and Girolami A. Von Willebrand factor collagen binding activity in the diagnosis of von Willebrand disease: an alternative to ristocetin cofactor activity?. Br J Haematol 112 (2001) 578-583
23. Gibaldi M., and Perrier D. Pharmacokinetics (1975), Marcel Dekker, New York
24. Menache D., Aronson D.L., Darr F., et al. Pharmacokinetics of von Willebrand factor and factor VIIIC in patients with severe von Willebrand disease (type 3 VWD): estimation of the rate of factor VIIIC synthesis. Br J Haematol 94 (1996) 740-745
25. Mancuso D.J., Tuley E.A., Westfield L.A., et al. Structure of the gene for human von Willebrand factor. J Biol Chem 264 (1989) 19514-19527
26. Goodeve A.C., Eikenboom J.C., Ginsburg D., et al. A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor. Thromb Haemost 85 (2001) 929-931
27. Abildgaard C.F., Suzuki Z., Harrison J., Jefcoat K., and Zimmerman T.S. Serial studies in von Willebrand's disease: variability versus variants. Blood 56 (1980) 712-716
28. Casonato A., Daidone V., Sartorello F., et al. Polymorphisms in von Willebrand factor gene promoter influence the glucocorticoid-induced increase in von Willebrand factor: the lesson learned from Cushing's syndrome. Brit J Haematol 140 (2008) 230-235
29. Gill J.C., Endres-Brooks J., Bauer P.J., Marks W.J., and Montgomery R.R. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 69 (1987) 1691-1695
30. Gallinaro L., Cattini M.G., Sztukowska M., et al. A shorter von Willebrand factor survival in O blood group explains how ABO determinants influence plasma von Willebrand factor. Blood 111 (2008) 3540-3545
31. Castaman G., and Eikenboom C.L.J. ABO blood group influences the von Willebrand factor (VWF) antigen level in heterozygous carriers of VWF null alleles, type 2N Arg854Gln, and the missense mutation Cys2362Phe. Blood 100 (2002) 1927-1928
32. Millar C.M., Riddell A.F., Brown S.A., et al. Survival of von Willebrand factor released following DDAVP in type 1 von Willebrand disease cohort: influence of glycosylation, proteolysis and gene mutations. Thromb Haemost 99 (2008) 916-924