Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: A cohort study of 67 patients

Blood

Volumn 113, Issue 3, 2009, Pages 526-534

  Federici, Augusto B ^a   Mannucci, Pier M ^a   Castaman, Giancarlo ^b   Baronciani, Luciano ^a   Bucciarelli, Paolo ^a   Canciani, Maria T ^a   Pecci, Alessandro ^c   Lenting, Peter J ^d   Groot, Philip G De ^d  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b SAN BORTOLO HOSPITAL   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d UTRECHT UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN IB ALPHA; VON WILLEBRAND FACTOR;

ADOLESCENT; ADULT; AGED; ARTICLE; BLEEDING; BLOOD SMEAR; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FEMALE; HUMAN; INFECTION; MAJOR CLINICAL STUDY; MALE; MUTATION; PREGNANCY; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RISK; SCHOOL CHILD; STRESS; SURGICAL TECHNIQUE; THROMBOCYTE COUNT; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; VON WILLEBRAND DISEASE; BLOOD; CHEMISTRY; COHORT ANALYSIS; ENZYME LINKED IMMUNOSORBENT ASSAY; GENETICS; METABOLISM; MIDDLE AGED; PHYSIOLOGICAL STRESS; PHYSIOLOGY; PROTEIN QUATERNARY STRUCTURE; RISK FACTOR;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; COHORT STUDIES; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; HEMORRHAGE; HUMANS; INFECTION; MALE; MIDDLE AGED; MUTATION; PLATELET COUNT; PREGNANCY; PREVALENCE; PROTEIN STRUCTURE, QUATERNARY; RISK FACTORS; STRESS, PHYSIOLOGICAL; THROMBOCYTOPENIA; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 60249092963     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-04-152280     Document Type: Article

References (43)

1. Ruggeri ZM, Pareti FI, Mannucci PM, Ciavarella N, Zimmerman TS. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand disease. N Engl J Med. 1980;302:1047-1051.
2. De Groot PG, Federici AB, De Boer HC, et al. Von Willebrand factor synthesized by endothelial cells from a patient with type II B von Willebrand disease supports platelet adhesion normally but has an increased affinity for platelets. Proc Natl Acad Sci U S A. 1989;86:3793-3797.
3. Randi AM, Rabinowitz I, Mancuso DJ, et al. Molecular basis of von Willebrand disease type IIB: candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. J Clin Invest. 1991;87:1220-1226.
4. Cooney KA, Nichols WC, Bruck ME, et al. The molecular defect in type IIB von Willebrand disease: identification of four potential missense mutations within the putative GpIb binding domain. J Clin Invest. 1991;87:1227-1233.
5. Cooney KA, Ginsburg D. Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets. Blood. 1996;87:2322-2328.
6. Ruggeri ZM. Type IIB von Willebrand disease: a paradox explains how von Willebrand factor works. J Thromb Haemost. 2004;2:2-6.
7. Ruggeri ZM, Mannucci PM, Lombardi R, Federici AB, Zimmerman TS. Multimeric composition of factor VIII/von Willebrand factor following administration of DDAVP: implications for pathophysiology and therapy of von Willebrand's disease subtypes. Blood. 1982;59:1272-1278.
8. Ruggeri ZM, Lombardi R, Gatti L, et al. Type IIB von Willebrand disease: differential clearance of endogenous versus transfused large multimers von Willebrand factor. Blood. 1982;60:1453-1456.
9. Federici AB, Mannucci PM, Stabile F, et al. A type 2b von Willebrand disease mutation (lle5463Val) associated with an unusual phenotype. Thromb Haemost. 1997;78:1132-1137.
10. Holmberg L, Berntorp E, Donner M, Nilsson IM. von Willebrand's disease characterized by increased ristocetin sensitivity and the presence of all von Willebrand factor multimers in plasma. Blood. 1986;68:668-672.
11. Weiss HJ, Sussman II. A new von Willebrand variant (type I, New York): increased ristocetininduced platelet aggregation and plasma von Willebrand factor containing the full range of multimers. Blood. 1986;68:149-156.
12. Holmberg L, Dent JA, Schneppenheim, et al. von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. J Clin Invest. 1993;91:2169-2177.
13. Castaman G, Federici AB, Rodeghiero F, Mannucci 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.
14. Sadler JE, Budde U, Eikenboom JCJ, 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.
15. Saba HI, Saba SR, Dent J, et al Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation. Blood. 1985;66:282-286.
16. Gralnick HR, Williams SB, McKeown LP, et al. von Willebrand's disease with spontaneous platelet aggregation induced by an abnormal plasma von Willebrand factor. J Clin Invest. 1985;76: 1522-1529.
17. Loffredo G, Baronciani L, Noris P, et al. Von Willebrand disease type 2B must be always considered in the differential diagnosis of genetic thrombocytopenias with giant platelets. Platelets. 2006;17:149-152.
18. Bader-Meunier B, Proulle V, Trichet C, et al Misdiagnosis of chronic thrombocytopenia in childhood. J Pediatr Hematol Oncol. 2003;25:548-552.
19. Geddis AE, Balduini CL Diagnosis of immune thrombocytopenic purpura in children. Curr Opin Hematol. 2007;14:520-525.
20. Noris P, Pecci A, Di Bari F, et al. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica. 2004;89:1219-1225.
21. Rick ME, Williams SB, Sacher RA, McKeown LP. Thrombocytopenia associated with pregnancy in a patient with type IIB von Willebrand disease. Blood. 1987;69:786-789.
22. Pareti FI, Federici AB, Cattaneo M, Mannucci PM. Spontaneous platelet aggregation during pregnancy in a patient with von Willebrand disease type II B can be blocked by monoclonal antibodies to both platelet glycoproteins I b and IIb/ IIIa. Br J Haematol. 1990;75:86-91.
23. Hultin MB, Sussman II. Postoperative thrombocytopenia in type IIB von Willebrand disease. Am J Hematol. 1990;75:86-91.
24. Holmberg L, Nilsson IM, Borge L, Gunnarsson M, Sjorin E. Platelet aggregation induced by 1-desamino- 8-D-arginine vasopressin (DDAVP) in type IIB von Willebrand disease. N Engl J Med. 1983; 309:816-821.
25. Nurden P, Debili N, Vainchenker W, et al. Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia. Blood. 2006;108:2587-2595.
26. Hulstein JJ, de Groot PG, Silence K, et al. A novel nanobody that detects the gain-of-function phenotype of von Willebrand factor in ADAMTS 13 deficiency and von Willebrand disease type 2B. Blood. 2005;106:3035-3042.
27. Federici AB, Bucciarelli P, Castaman G, et al. Prevalence and determinants of bleeding in different types of von Willebrand disease: results of the first prospective multicenter study on 814 Italian patients. Blood. 2007; Abstract 713.
28. Federici AB, Castaman G, Mannucci PM. Guidelines for the diagnosis and management of VWD in Italy. Haemophilia. 2002;8:607-621.
29. 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;4:766-773.
30. Federici AB, Canciani MT, Forza I, et al. A sensitive ristocetin co-factor activity assay with recombinant glycoprotein Ib alpha for diagnosis of patients with low von Willebrand factor levels. Haematologica. 2004;89:77-85.
31. Ruggeri ZM, Zimmerman TS. The complex multimeric composition of factor VIII/von Willebrand factor. Blood. 1981;57:1140-1143.
32. Hampshire D. International Society of Thrombosis and Hemostasis von Willebrand factor database. www.VWF.group.shef.ac.uk. Accessed December 27, 2007.
33. Baronciani L, Federici AB, Beretta M, et al. Expression studies on a novel type 2B variant of the von Willebrand factor gene (R1308L) characterized by defective collagen binding. J Thromb Haemost. 2005;3:2689-2694.
34. Baronciani L, Federici AB, Castaman G, et al. Prevalence of type 2B "Malmoe/New York" von Willebrand disease among patients enrolled into the Italian registry: the role of von Willebrand factor gene conversion. J Thromb Haemost. 2008;6: 887-890.
35. Gupta PK, Adamtziki E, Budde U, et al. Gene conversions are a common cause of von Willebrand disease. Br J Haematol. 2005;130:752-758.
36. Nurden P, Chretien F, Poujol C, et al. Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease. Br J Haematol. 2000;110:704-714.
37. 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 2B von Willebrand disease. J Thromb Haemost. 2008;6: 90-96.
38. Huizinga EG, Shizuko T, Romijn RAP, et al Structure of glycoprotein Ibγ and its complex with von Willebrand factor A1 domain. Science. 2002;297: 1176-1179.
39. Federici AB, Mannucci PM, Bader R, et al. Heterogeneity in type IIB von Willebrand disease: two unrelated cases with no family history and mild abnormalities of ristocetin-induced interaction between von Willebrand factor and platelets. Am J Hematol. 1986;23:381-390.
40. Rendal E, Penas N, Larrabeiti B, et al. Type 2B von Willebrand's disease due to Va11316Met mutation: heterogeneity in the same sibship. Ann Hematol. 2001;80:345-360.
41. Mathew P, Greist A, Maahs JA, et al. Type 2B VWD: the varied clinical manifestations in two kindred. Hemophilia. 2003;9:137-144.
42. Gilbert JC, Feo-Fraulini T, Hutabarat RM, et al. First-in-human evaluation of anti von Willebrand factor therapeutic aptamer ARC1779 in healthy volunteers. Circulation. 2007;116:2678-2686.
43. Hennan JK, Swillo RE, Morgan GA, et al. Pharmacologic inhibition of platelet VWF-GpIbγ interaction prevents coronary artery thrombosis. Thromb Haemost. 2006;95:469-475.