Type 2M von Willebrand disease: A variant of type 2A? [3]

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 2, 2008, Pages 388-390

  Batlle, Javier ^a,b   Perez Rodriguez A ^a   Franqueira, M D ^a   Lopez Fernandez M F ^a  

^a HOSPITAL JUAN CANALEJO   (Spain)

^b UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; DESMOPRESSIN; RISTOCETIN; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE;

BLOOD SAMPLING; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DEGRADATION; THROMBOCYTE ADHESION; TREATMENT OUTCOME; VON WILLEBRAND DISEASE; VON WILLEBRAND DISEASE TYPE 2;

EID: 38349183295     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.02853.x     Document Type: Letter

References (14)

1. Sadler JE. A revised classification of von Willebrand disease. For the subcommittee of von Willebrand Factor of the Scientific and Standardization Committee of International Society on Thrombosis and Haemostasis. Thromb Haemost 1994; 71: 520-5.
2. Sadler JE, Budde U, Eikenboom JC, Favaloro EJ, Hill FG, Holmberg L, Ingerslev J, Lee CA, Lillicrap D, Mannucci PM, Mazurier C, Meyer D, Nichols WL, Nishino M, Peake IR, Rodeghiero F, Schneppenheim R, Ruggeri ZM, Srivastava A, Montgomery RR, 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: 2103-14.
3. Ribba AS, Loisel I, Lavergne JM, Juhan-Vague I, Obert B, Cherel G, Meyer D, Girma JP. Ser968Thr mutation within the A3 domain of von Willebrand factor (VWF) in two related patients leads to a defective binding of VWF to collagen. Thromb Haemost 2001; 86: 848-54.
4. Schneppenheim R. European Workshop on von Willebrand Factor and von Willebrand Disease, Antwerp, September 28-30, 2007.
5. Penas N, Perez-Rodriguez A, Torea JH, Loures E, Noya MS, Lopez-Fernandez MF, Batlle J. Von Willebrand disease R1374C: Type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia) Am J Hematol 2005; 80: 188-96.
6. Michiels JJ, Berneman Z, Gadisseur A, van der Planken M, Schroyens W, van de Velde A, van Vliet H. Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (Unclassifiable) von Willebrand disease. Clin Appl Throm Haemost 2006; 12: 397-420.
7. Hilbert L, Gaucher C, Mazurier C. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (VWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of VWF. Blood 1995; 86: 1010-8.
8. Casonato A, Pontara E, Sartorello F, Bertomoro A, Durante C, Girolami A. Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization. J Lab Clin Med 2001; 137: 70-6.
9. Nitu-Whalley IC, Riddell A, Lee CA, Pasi KJ, Owens D, Enayat MS, Perkins SJ, Jenkins PV. Identification of type 2 von Willebrand disease in previously diagnosed type 1 patients: A reappraisal using phenotypes, genotypes and molecular modelling. Thromb Haemost 2000; 84: 998-1004.
10. Lethagen S, Frick K, Isaksson C, Kristofferson AC, Holmberg L. Revised classification and treatment of von Willebrand disease. Thromb Haemost 1998; 80: 199-200.
11. Hoyer LW, Rizza CR, Tuddenham EG, Carta CA, Armitage H, Rotblat F. Von Willebrand factor multimer patterns in von Willebrand's disease. Br J Haematol 1983; 55: 493-507.
12. Schneppenheim R, Budde U, Ruggeri ZM. A molecular approach to the classification of von Willebrand disease. Best Pract Res Clin Haematol 2001; 14: 281-98.
13. Batlle J, Lopez Fernandez MF, Campos M, Justica B, Berges C, Navarro JL, Diaz Cremades JM, Kasper CK, Dent JA, Ruggeri ZM, Zimmerman TS. The heterogeneity of type IIA von Willebrand's disease: Studies with protease inhibitors. Blood 1986; 68: 1207-12.
14. Zimmerman TS, Dent JA, Ruggeri ZM, Nannini LH. Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE). J Clin Invest 1986; 77: 947-51.