Platelet-type von Willebrand disease: A rare, often misdiagnosed and underdiagnosed bleeding disorder

Seminars in Thrombosis and Hemostasis

Volumn 37, Issue 5, 2011, Pages 464-469

  Othman, Maha ^a  

^a QUEEN S UNIVERSITY   (Canada)

Author keywords

Glycoprotein 1b; platelet concentrate; PT VWD mouse; registry; RIPA; type 2B VWD

Indexed keywords

AMINOCAPROIC ACID; BLOOD CLOTTING FACTOR 8 CONCENTRATE; DNA FRAGMENT; GENOMIC DNA; GLYCOPROTEIN IB ALPHA; MESSENGER RNA; RECOMBINANT BLOOD CLOTTING FACTOR 7A; RISTOCETIN; VON WILLEBRAND FACTOR;

ANTICOAGULATION; ARTICLE; CRYSTAL STRUCTURE; DATA BASE; DIAGNOSTIC ERROR; DISEASE REGISTRY; DRUG MECHANISM; GAIN OF FUNCTION MUTATION; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; MOLECULAR GENETICS; MORBIDITY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; STOP CODON; THROMBOCYTE AGGLUTINATION; THROMBOCYTE FUNCTION; TREATMENT CONTRAINDICATION; VON WILLEBRAND DISEASE;

ANIMALS; BLOOD PLATELETS; DIAGNOSIS, DIFFERENTIAL; GENES, DOMINANT; HUMANS; MEMBRANE GLYCOPROTEINS; MUTATION; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 81755176088     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0031-1281030     Document Type: Article

References (36)

1. Weiss H J., Meyer D, Rabinowitz R et al. Pseudo-von Willebrand's 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 Engl J Med 1982 306 6 326-333 (Pubitemid 12169113)
2. Othman M. Platelet-type von Willebrand disease and type 2B von Willebrand disease: a story of nonidentical twins when two different genetic abnormalities evolve into similar phenotypes. Semin Thromb Hemost 2007 33 8 780-786 (Pubitemid 351158446)
3. Miller J L., Castella A. Platelet-type von Willebrand's disease: characterization of a new bleeding disorder. Blood 1982 60 3 790-794 (Pubitemid 12027162)
4. Registry PT-VWD. Available at: http//www.pt-vwd.org Accessed February 9, 2011
5. Lopez J A., Chung D W., Fujikawa K, Hagen F S., Papayannopoulou T, Roth G J. Cloning of the alpha chain of human platelet glycoprotein Ib: a transmembrane protein with homology to leucine-rich alpha 2-glycoprotein. Proc Natl Acad Sci U S A 1987 84 16 5615-5619 (Pubitemid 17130411)
6. Ware J, Russell S, Ruggeri Z M. Cloning of the murine platelet glycoprotein Ibalpha gene highlighting species-specific platelet adhesion. Blood Cells Mol Dis 1997 23 2 292-301 (Pubitemid 27469464)
7. Miller J L., Cunningham D, Lyle V A., Finch C N. Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci U S A 1991 88 11 4761-4765 (Pubitemid 21914622)
8. Russell S D., Roth G J. Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. Blood 1993 81 7 1787-1791 (Pubitemid 23101591)
9. Takahashi H, Murata M, Moriki T et al. Substitution of Val for Met at residue 239 of platelet glycoprotein Ib alpha in Japanese patients with platelet-type von Willebrand disease. Blood 1995 85 3 727-733
10. Kunishima S, Heaton D C., Naoe T et al. De novo mutation of the platelet glycoprotein Ib alpha gene in a patient with pseudo-von Willebrand disease. Blood Coagul Fibrinolysis 1997 8 5 311-315 (Pubitemid 27360015)
11. Huizinga E G., Tsuji S, Romijn R A. et al. Structures of glycoprotein Ibalpha and its complex with von Willebrand factor A1 domain. Science 2002 297 5584 1176-1179 (Pubitemid 36196734)
12. Murata M, Russell S R., Ruggeri Z M., Ware J. Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. J Clin Invest 1993 91 5 2133-2137 (Pubitemid 23141488)
13. Moriki T, Murata M, Kitaguchi T et al. Expression and functional characterization of an abnormal platelet membrane glycoprotein Ib alpha (Met239>Val) reported in patients with platelet-type von Willebrand disease. Blood 1997 90 2 698-705 (Pubitemid 27299110)
14. Matsubara Y, Murata M, Sugita K, Ikeda Y. Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. J Thromb Haemost 2003 1 10 2198-2205
15. Nurden P, Lanza F, Bonnafous-Faurie C, Nurden A. A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene. Thromb Haemost 2007 97 2 319-321 (Pubitemid 46592156)
16. Othman M, Notley C, Lavender F L. et al. Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease. Blood 2005 105 11 4330-4336 (Pubitemid 40720779)
17. Uff S, Clemetson J M., Harrison T, Clemetson K J., Emsley J. Crystal structure of the platelet glycoprotein Ib(alpha) N-terminal domain reveals an unmasking mechanism for receptor activation. J Biol Chem 2002 277 38 35657-35663
18. Dumas J J., Kumar R, McDonagh T et al. Crystal structure of the wild-type von Willebrand factor A1-glycoprotein Ibalpha complex reveals conformation differences with a complex bearing von Willebrand disease mutations. J Biol Chem 2004 279 22 23327-23334 (Pubitemid 38685642)
19. Othman M. Differential identification of PT-VWD from type 2B VWD and GP1BA nomenclature issues. Br J Haematol 2008 142 2 312-314 author reply 314-315 (Pubitemid 351987316)
20. Miller J L. Platelet-type von Willebrand disease. Thromb Haemost 1996 75 6 865-869 (Pubitemid 26355338)
21. Federici A B., Mannucci P M., 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 3 526-534
22. Nurden A T. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost 2005 3 8 1773-1782 (Pubitemid 41716564)
23. Favaloro E J. 2B or not 2B? Differential identification of type 2B, versus pseudo-von Willebrand disease. Br J Haematol 2006 135 1 141-142 author reply 143 (Pubitemid 44337676)
24. Favaloro E J. 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 sides of a multidenominational or multifaceted primary-hemostasis coin? Semin Thromb Hemost 2008 34 1 113-127
25. Favaloro E J., Patterson D, Denholm A et al. Differential identification of a rare form of platelet-type (pseudo-) von Willebrand disease (VWD) from type 2B VWD using a simplified ristocetin-induced-platelet-agglutination mixing assay and confirmed by genetic analysis. Br J Haematol 2007 139 4 623-626 (Pubitemid 350043816)
26. Whalley I N., Perry D J. 2B or not 2B? Differential identification of type 2B, versus pseudo von Willebrand disease. Br J Haematol 2007 136 2 345 author reply 345-346 (Pubitemid 46020767)
27. Othman M, Lillicrap D. Distinguishing between non-identical twins: platelet type and type 2B von Willebrand disease. Br J Haematol 2007 138 5 665-666 (Pubitemid 47206714)
28. Othman M, Hamilton A. Platelet-type von Willebrand disease: results of a worldwide survey from the Canadian PT-VWD project. Acta Haematol 2010 123 2 126-128
29. Enayat M S., Guilliatt A M., Lester W, Wilde J T., Williams M D., Hill F G. Distinguishing between type 2B and pseudo-von Willebrand disease and its clinical importance. Br J Haematol 2006 133 6 664-666 (Pubitemid 43742784)
30. Giannini S, Cecchetti L, Mezzasoma A M., Gresele P. Diagnosis of platelet-type von Willebrand disease by flow cytometry. Haematologica 2010 95 6 1021-1024
31. Franchini M, Montagnana M, Lippi G. Clinical, laboratory and therapeutic aspects of platelet-type von Willebrand disease. Int J Lab Hematol 2008 30 2 91-94 (Pubitemid 351365258)
32. Guerrero J A., Kyei M, Russell S et al. Visualizing the von Willebrand factor/glycoprotein Ib-IX axis with a platelet-type von Willebrand disease mutation. Blood 2009 114 27 5541-5546
33. Suva L J., Hartman E, Dilley J D. et al. Platelet dysfunction and a high bone mass phenotype in a murine model of platelet-type von Willebrand disease. Am J Pathol 2008 172 2 430-439 (Pubitemid 351282030)
34. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987 69 2 454-459 (Pubitemid 17022013)
35. Favaloro E. von Willebrand disease: local diagnosis and management of a global issue. Semin Thromb Hemost 2011 37 5 440-455
36. Hamilton A, Ozelo M, Leggo J et al. Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. Thromb Haemost 2011 105 3 501-508