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

Volumn 111, Issue 7, 2008, Pages 3531-3539

  Castaman, Giancarlo ^a   Lethagen, Stefan ^b,c   Federici, Augusto B ^d   Tosetto, Alberto ^a   Goodeve, Anne ^e   Budde, Ulrich ^f   Batlle, Javier ^g   Meyer, Dominique ^h   Mazurier, Claudine ⁱ   Fressinaud, Edith ^j   Goudemand, Jenny ^k   Eikenboom, Jeroen ^l   Schneppenheim, Reinhard ^m   Ingerslev, Jorgen ⁿ   Vorlova, Zdena ^o   Habart, David ^o   Holmberg, Lars ^b   Pasi, John ^p   Hill, Frank ^q   Peake, Ian ^e   Rodeghiero, Francesco ^a   more..

^a SAN BORTOLO HOSPITAL   (Italy)

^b LUND UNIVERSITY   (Sweden)

^c Mental Health Services CPH   (Denmark)

^d UNIVERSITY OF MILAN   (Italy)

^e UNIVERSITY OF SHEFFIELD   (United Kingdom)

^f Coagulation Laboratory   (Germany)

^g Hospital Teresa Herrera   (Spain)

^h INSERM   (France)

ⁱ Laboratoire Francais du Fractionnement et des Biotechnologies   (France)

^j Lnserm   (France)

^k UNIV LILLE   (France)

^l LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^m UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

ⁿ AARHUS UNIVERSITY HOSPITAL   (Denmark)

^o INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

^p LEICESTER ROYAL INFIRMARY   (United Kingdom)

^q BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; DESMOPRESSIN; RISTOCETIN; VON WILLEBRAND FACTOR; ARGIPRESSIN[1 DEAMINO]; F8 PROTEIN, HUMAN; HEMOSTATIC AGENT; PROTEIN C;

ADOLESCENT; ADULT; AGED; AREA UNDER THE CURVE; ARTICLE; CHILD; CLINICAL TRIAL; CODON; COFACTOR ACTIVITY; CORRELATION ANALYSIS; DRUG RESPONSE; FEMALE; GENE MUTATION; GENOTYPE; HALF LIFE TIME; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; PARAMETER; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; STATISTICAL ANALYSIS; VON WILLEBRAND DISEASE; BLOOD CLOTTING TEST; CHEMISTRY; GENETICS; METHODOLOGY; MIDDLE AGED; MUTATION; PROSPECTIVE STUDY; PROTEIN TERTIARY STRUCTURE;

ADOLESCENT; ADULT; AGED; BLOOD COAGULATION TESTS; CHILD; DEAMINO ARGININE VASOPRESSIN; FACTOR VIII; FEMALE; GENOTYPE; HEMOSTATICS; HUMANS; MALE; MIDDLE AGED; MUTATION; PROSPECTIVE STUDIES; PROTEIN C; PROTEIN STRUCTURE, TERTIARY; RISTOCETIN; VON WILLEBRAND DISEASE;

EID: 43549097149     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2007-08-109231     Document Type: Article

References (25)

1. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von WiII-ebrand's disease. Blood. 1987;69:454-459.
2. Werner EJ, Broxson EH. Tucker EL. Giroux DS, Shults J, Abshire TC. Prevalence of von Wille-brand disease in children: a multiethnic study. J Pediatr. 1993;123:893-898.
3. Rodeghiero F, Castaman G. Treatment of von Willebrand disease. Semin Hematol. 2005;42:29-35.
4. Kautmann JE, Oksche A, Wollheim CB, Gunther G, Rosenthal W; Vischer UM. Vasopressin- induced von Willebrand factor secretion from endothelial cells involves V2 receptors and cAMP. Blood. 2000;106:107-116.
5. Castaman G, Federici AB, Rodeghiero F Man-nucci PM. Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica. 2003;88:94-108.
6. Rodeghiero F, Castaman G, Di Bona E, Ruggeri M, Lombardi R. Mannucci PM. Hyper-responsiveness to DDAVP for patients with type I von Will-ebrand's disease and normal intra-platelet von Willebrand factor. Eur J Haematol. 1988;40:163- 167.
7. Lethagen S, Harris AS, Sjorin E, Nilsson IM. Intranasal and intravenous administration of desmopressin: effect on FVIII/vWF, pharmacokinetics and reproducibility. Thromb Haemost. 1987;58: 1033-1036.
8. Federici AB, Mazurier C, Berntorp E, et al. Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study. Blood. 2004;103:2032-2038.
9. Rodeghiero F, Castaman G, Di Bona E, Ruggeri M. Consistency of responses to repeated DDAVP infusions in patients with von Willebrand's disease and hemophilia A. Blood. 1989;74:1997-2000.
10. Casonato A, Pontara E, Sartorello F, et al. Reduced von Willebrand factor survival in type Vi-cenza von Willebrand disease. Blood. 2002;99: 180-184.
11. Castaman G, Federici AB, Bernardi M, Moroni B, Bertoncello K, Rodeghiero F. Factor VIII and von Willebrand factor changes after desmopressin and during pregnancy in type 2M von Willebrand disease Vicenza: a prospective study comparing patients with single (R1205H) and double (R1205H-M740I) defect. J Thromb Haemost. 2006;4:357-360.
12. Schooten CJ, Tjernberg P, Westein E, et al. Cysteine-mutations in von Willebrand factor associated with increased clearance. J Thromb Haemost. 2005;3:2228-2237.
13. Haberichter SL, Balistreri M, Christopherson P, et al. Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decresed survival. Blood. 2006;108:3344-3351.
14. Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study. Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MC-MDM-1VWD). Blood. 2007;109:112-121.
15. Tosetto A, Rodeghiero F, Gastaman 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;4:766-773.
16. Eikenboom J, Van Marion V, Putter H, et al. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost. 2006;4:774-782.
17. James PD, Notley C, Hegadorn G, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood. 2007;109:145-154.
18. Gumming A, Grundy P, Keeney S, et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost. 2006;96:630-641.
19. Revel-Vilk S, Schmugge M, Carcao MD, Blanchette P, Rand ML. Blanchette VS. Desmopressin (DDAVP) responsiveness in children with von Willebrand disease. J Pediatr Hematol Oncol. 2003;25: 874-879.
20. Castaman G, Rodeghiero R Mannucci PM. The elusive pathogenesis of von Willebrand disease Vicenza. Blood. 2002;99:4243-4244.
21. Sadler JE, Budde U, Eikenboom JC, et al. 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.
22. Mannucci PM, Lombardi R, Gastaman G, et al. von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers. Blood. 1988;71:65-70.
23. Castaman G, Eikenboom JC, Missiaglia E. Rodeghiero F. Autosomal dominant type 1 von Willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect. Br J Haematol. 2000;108:876-879.
24. Mannucci PM, Lombardi R, Bader R, et al. Heterogeneity of type I von Willebrand disease: evidence for a subgroup with an abnormal von Willebrand factor. Blood. 1985;66:796-802.
25. Eikenboom JC, Matsushita T, Reitsma PH, et al. Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor. Blood. 1996;88:2433-2441.