Altered megakaryocytopoiesis in von Willebrand type 2B disease

Journal of Thrombosis and Haemostasis

Volumn 7, Issue SUPPL. 1, 2009, Pages 277-281

  Nurden, Alan T ^a   Federici, A B ^b   Nurden, P ^a  

^a Ctr Geriatrie Ctr Hosp Univ B   (France)

^b UNIVERSITY OF MILAN   (Italy)

Author keywords

Glycoprotein Iba; Megakaryocytopoiesis; Platelets; von Willebrand disease type 2B; von Willebrand factor

Indexed keywords

CASPASE 3; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IB ALPHA A1; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

BINDING AFFINITY; BONE MARROW BIOPSY; CONFOCAL MICROSCOPY; CRYSTAL STRUCTURE; ENZYME ACTIVITY; GENE MUTATION; GENETIC REGULATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MEGAKARYOPOIESIS; NONHUMAN; PREVALENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN TRANSPORT; REVIEW; THROMBOCYTE ADHESION; THROMBOCYTE AGGLUTINATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA; THROMBOGENESIS; UPREGULATION; VON WILLEBRAND DISEASE; VON WILLEBRAND DISEASE TYPE 2B;

HUMANS; MEGAKARYOCYTES; PLATELET ADHESIVENESS; THROMBOPOIESIS; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 67849118804     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2009.03371.x     Document Type: Review

References (27)

1. Ruggeri ZM, Pareti FI, Mannucci PM, Ciavarella N, Zimmerman TS. Heightened interactions between platelets and factor VIII/von Willebrand in a new subtype of von Willebrand's disease. N Engl J Med 1980; 302: 1047-51.
2. Randi AM, Rabinowitz I, Mancusco DJ, Mannucci PM, Sadler JE. 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: 1220-6.
3. Sadler JE. Biochemistry and genetics of von Willebrand factor. Annu Rev Biochem 1998; 67: 395-424.
4. De Groot PG, Federici AB, De Boer HC, D'Alessio P, Mannucci PM, Sixma JJ. Von Willebrand factor synthesized by endothelial cells from a patient with type IIB von Willebrand disease supports platelet adhesion normally but has increased affinity for platelets. Proc Natl Acad Sci USA 1989; 86: 3793-7.
5. Huizinga EG, Tsuji S, Romjin RAP, Schiphorst ME, De Groot PG, Sixma JJ, Gros P. Structures of glycoprotein Ibα and its complex with von Willebrand factor A1 domain. Science 2002; 297: 1176-9.
6. Yago T, Lou J, Wu T, Yang J, Miner JJ, Coburn L, Lopez JA, Cruz MA, Dong JF, McIntire LV, McEver RP, Zhu C. Platelet glycoprotein Ibα forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF. J Clin Invest 2008; 118: 3195-207.
7. Shim K, Anderson PJ, Tuley EA, Wiswall E, Sadler JE. Platelet-VWF complexes are preferred substrates of ADAMTS13 under fluid shear stress. Blood 2008; 111: 651-7.
8. Lankhof H, Damas C, Schiporst ME, Ijsseldijk MJ, Bracke M, Sixma JJ, Vink T, de Groot PG. Functional studies on platelet adhesion with recombinant von Willebrand factor type 2B mutants R543Q and R543W under conditions of flow. Blood 1997; 89: 2766-72.
9. Sugimoto M, Matsui H, Mizuno T, Tsuji S, Miyata S, Matsumoto M, Matsuda M, Fujimura Y, Yoshioka A. Mural thrombus formation in type 2A and 2B von Willebrand disease under flow conditions. Blood 2003; 101: 915-20.
10. Federici AB, Mannucci PM, Castaman G, Baronciani L, Bucciarelli P, Canciani MT, Pecci A, Lenting PJ, De Groot PG. 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 2009; 113: 526-34.
11. Kroner PA, Kluessendorf ML, Scott JP, Montgomery RR. Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets. Blood 1992; 79: 2048-55.
12. De Romeuf C, Hilbert L, Mazurier C. Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations. Thromb Haemost 1998; 79: 211-16.
13. Dumas JJ, Kumar R, McDonagh T, Sullivan F, Stahl ML, Somers WS, Mosyak L. Crystal structure of the wild-type von Willebrand factor A1-glycoprotein Ibα complex reveals conformation differences with a complex bearing von Willebrand disease mutations. J Biol Chem 2004; 279: 23327-34.
14. Holmberg L, Dent JA, Scheppenheim R, Budde U, Ware J, Ruggeri ZM. Von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. J Clin Invest 1993; 91: 2169-77.
15. Baronciani L, Federici AB, Cozzi G, Canciani MT, Mannucci PM. Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease. J Thromb Haemost 2007; 5: 282-8.
16. Baronciani L, Federici AB, Beretta M, Cozzi G, Canciani MT, Mannucci PM. 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: 2689-94.
17. 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's disease. N Engl J Med 1983; 309: 816-21.
18. 546 → Val) associated with an unusual phenotype. Thromb Haemost 1997; 78: 1132-7.
19. Nurden P, Chretien F, Poujol C, Winckler J, Borel-Derlon A, Nurden A. Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease. Br J Haematol 2000; 110: 704-14.
20. Saba HI, Saba SR, Dent JA, Ruggeri ZM, Zimmerman TS. Type IIB Tampa: A variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates and spontaneous platelet aggregation. Blood 1985; 66: 282-6.
21. Nurden P, Debili N, Vainchenker W, Bobe R, Bredoux R, Corvazier E, Combrié R, Fressinaud E, Meyer D, Nurden AT, Enouf J. Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia. Blood 2006; 108: 2587-95.
22. Slayton WB, Patel M, Sola-Visner M, Harris N, Rivers A, Montgomery RR, Friedman KD. Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow. J Pediatr Hematol Oncol 2008; 30: 708-11.
23. Milton JG, Frojmovic MM. Shape-changing agents produce abnormally large platelets in a hereditary "giant platelets syndrome (MPD)". J Lab Clin Med 1979; 93: 154-61.
24. Jackson SC, Sinclair GD, Cloutier S, Duan Z, Rand ML, Poon M-C. The Montreal platelet syndrome kindred have type 2B von Willebrand disease with the VWF 1316 mutation. Blood 2009; 113: 3348-51.
25. Kunicki TJ, Baronciani L, Canciani MT, Gianniello F, Head SR, Mondala TS, Salomon DR, Federici AB. An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees. J Thromb Haemost 2006; 4: 137-47.
26. Lemmerhirt HL, Broman KW, Shavit JA, Ginsburg D. Genetic regulation of plasma von Willebrand factor levels: Quantitative trait loci analysis in a mouse model. J Thromb Haemost 2006; 5: 329-35.
27. Federici AB, Mannucci PM. Management of inherited von Willebrand disease in 2007. Ann Med 2007; 39: 346-58.