Prospective study of low-dose ristocetin-induced platelet aggregation to identify type 2B von Willebrand disease (VWD) and platelet-type VWD in children

Thrombosis and Haemostasis

Volumn 104, Issue 6, 2010, Pages 1158-1165

  Frontroth, Juan Pablo ^a   Hepner, Mirta ^a   Sciuccati, Gabriela ^a   Torres, Aurora Feliú ^a   Pieroni, Graciela ^a   Bonduel, Mariana ^a  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

Author keywords

Bleeding; Children; Platelet aggregation; Ristocetin; Von Willebrand disease type 2B

Indexed keywords

COLLAGEN BINDING PROTEIN; RISTOCETIN;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING DISORDER; CHILD; CONTROLLED STUDY; CRYOPRECIPITATE; EXON; FAMILY HISTORY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; LOW DRUG DOSE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PLATELET TYPE VON WILLEBRAND DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCHOOL CHILD; THROMBOCYTE AGGREGATION; THROMBOCYTOPENIA; VON WILLEBRAND DISEASE;

ADOLESCENT; ARGENTINA; BLOOD COAGULATION TESTS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PLATELET AGGREGATION; PLATELET FUNCTION TESTS; PREDICTIVE VALUE OF TESTS; PROGNOSIS; PROSPECTIVE STUDIES; RISTOCETIN; VON WILLEBRAND DISEASE, TYPE 2; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 78649725668     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH10-04-0213     Document Type: Article

References (45)

1. Ruggeri ZM, Pareti FI, Mannucci PM, et al. Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand disease. N Eng J Med 1980; 302: 1047-1051.
2. Miller JL, Castella A. Platelet-type von Willebrand's disease: characterization of a new bleeding disorder. Blood 1982; 60: 790-794.
3. Weiss HJ, Meyer D, Rabinowitz R, et al. Pseudo-von Willebrand disease. An intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high-molecular weight multimers. N Eng J Med 1982; 306: 326-333.
4. Othman M. Platelet-type von Willebrand disease and type 2B von Willebrand disease: A story of nonidentical twins when two different abnormalities evolve into similar phenotypes. Semin Thromb Hemost 2007; 33: 780-786.
5. Favaloro EJ. 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 side of a multidenominational or multifaceted primary-hemostasis coin? Semin Thromb Hemost 2008; 34: 113-127.
6. Othman M, Favaloro EJ. Genetics of type 2B von Willebrand disese: "True 2B", "tricky 2B", or "not 2B". What are the modifiers of the phenotype? Semin Thromb Hemost 2008; 34: 520-531.
7. th December, 2009
8. Miller JL, Cunningham D, Lyle VA, et al. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci USA 1991; 88: 4761-4765.
9. Sadler JE, Budde U, Eikenboom JC, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of Subcommittee on von Willebrand factor. J Thromb Haemost 2006; 4: 2103-2114.
10. Casonato A, Sartorello F, Pontara E, et al. A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis. Thromb Haemost 2007; 98: 1182-1187.
11. Federici AB, Mannucci PM, Castaman G, et al. 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: 526-534.
12. Montgomery RR. At least Type VWD2B is a discrete variant of VWD, isn't it? Blood 2009; 113: 501.
13. Federici AB. Diagnosis of inherited von Willebrand disease: a clinical perspective. Semin Thromb Haemost 2006; 32: 555-565.
14. Favaloro EJ, Bonar R, Meiring M, et al. 2B or not 2B? Disparate discrimination of functional VWF discordance using different panels or methodologies may lead to success or failure in the early identification of type 2B VWD. Thromb Haemost 2007; 98: 346-358.
15. Weiss HJ, Sussman II. A new von Willebrand variant (Type I, New York): increased ristocetin-induced platelet aggregation and plasma von Willebrand factor containing the full range of multimers. Blood 1986; 68: 149-156.
16. Holmberg L, Berntorp E, Donnér M, et al. 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.
17. Takimoto Y, Imanaka F. Type 2B Hiroshima: a variant of von Willebrand disease characterized by chronic thrombocytopenia and the presence of all von Willebrand factor multimers in plasma. Int J Hematol 1999; 70: 127-131.
18. Nichols WL, Hultina MB, James AH, et al. von Willebrand disease (VWD): evidence based diagnosis and management guidelines, the National Heart, Lung and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 2008; 14: 171-232.
19. Bowman M, Riddel J, Rand ML, et al. Evaluation of the diagnostic utility for von Willebrand disease of a pediatric bleeding questionnaire. J Thromb Haemost 2009; 7: 1418-1421.
20. Bonduel M, Frontroth JP, Hepner M, et al. Platelet aggregation and adenosine triphosphate release in children and adults. J Thromb Haemost 2007; 5: 1782-1783.
21. Wu KK, Hoak JC. Spontaneous platelet aggregation in arterial insufficiency: mechanism and implications. Thromb Haemost 1976, 35: 702-711.
22. Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991; 19: 5444.
23. Wenger RH, Kieffer N, Wicki AN, et al. Structure of the human blood platelet membrane glycoprotein Ib alpha gene. Biochem Biophys Res Commun 1988; 156: 389-395.
24. Mancuso DJ, Tuley EA, Westfield LA, et al. Structure of the gene for human von Willebrand factor. J Biol Chem 1989; 264: 19514-19527.
25. Kenny D, Newman PJ, Morateck PA, et al. A dinucleotide deletion results in defective membrane anchoring and circulating soluble glycoprotein Ib alpha in a novel form of Bernard-Soulier syndrome. Blood 1997; 90: 2626-2633.
26. Kroner PA, Kluessendorf ML, Scott JP, et al. Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets. Blood 1992; 79: 2048-2055.
27. Enayat MS, Guilliatt AM, Lester W, et al. Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance. Br J Haematol 2006; 133: 664-666.
28. Favaloro EJ. 2B or not 2B? Differential identification of type 2B, versus pseudovon Willebrand disease. Br J Haematol 2006; 135: 141-142.
29. Enayat MS. 2B or not 2B? Differential identification of type 2B, versus pseudo-von Willebrand disease - response to Favaloro. Br J Haematol 2006; 135: 143.
30. Whalley IN, Perry DJ. 2B or not 2B? Differential identification of type 2B, versus pseudo-von Willebrand disease. Br J Haematol 2007; 136: 345.
31. Favaloro EJ. 2B or not 2B? Differential identification of type 2B, versus pseudovon Willebrand disease - response to Whalley and Perry. Br J Haematol 2007; 136: 345-346.
32. Othman M, Lillicrap D. Distinguishing between non-identical twins: platelet type and type 2B von Willebrand disease. Br J Haematol 2007; 138: 665-666.
33. Favaloro EJ, Patterson D, Denholm A, et al. Differential identification of PT-VWD from type 2B VWD and GPIBA nomenclature issues - response to Othman. Br J Haematol 2008; 142: 314-315.
34. 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.
35. Slayton WB, Patel M, Sola-Visner M, et al. Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow. J Pediatr Hematol Oncol 2008; 30: 708-711.
36. Baronciani L, Federici AB, Castaman G, et al. Prevalence of type 2b "Malmö/New York" von Willebrand disease in Italy: the role of von Willebrand factor gene conversion. J Thromb Haemost 2008; 6: 887-890.
37. Favaloro EJ. An update on the von Willebrand factor collagen binding assay: 21 years of age and beyond adolescence but not yet a mature adult. Semin Thromb Haemost 2007; 33: 727-744.
38. 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.
39. Lopez-Fernandez MF, Lopez-Berges C, Martin-Bernal JA, et al. Type IIB von Willebrand's disease associated with a complex thrombocytopenic thrombocytopathy. Am J Hematol 1988; 27: 291-298.
40. Moll S, Rico Lazarowski A, White GCII. Giant platelet disorder in a patient with type 2B von Willebrand's disease. Am J Hematol 1998; 57: 62-67.
41. 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.
42. Peak IR, Goodeve AC. Genetic testing for von Willebrand disease: the case for. J Thromb Haemost 2010; 8: 13-16.
43. Favaloro EJ. Genetic testing for von Willebrand disease: the case against. J Thromb Haemost 2010; 8: 6-12.
44. Favaloro EJ. Time to seek further clarity in the molecular analysis of von Willebrand disease? Thromb Haemost 2009; 102: 175-177.
45. Keeney S, Bowen D, Cumming A et al. The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctor's Organisation Haemophilia Genetics Laboratory Network. Haemophilia 2008; 14: 1099-1111.