Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD): A rebuttal

Journal of Thrombosis and Haemostasis

Volumn 6, Issue 11, 2008, Pages 1999-2001

  Favaloro, Emmanuel J ^a  

^a WESTMEAD HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; VON WILLEBRAND FACTOR;

CANADA; DIAGNOSTIC ERROR; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; DISEASE MARKER; EUROPE; FAMILY; GENE MUTATION; HUMAN; LABORATORY DIAGNOSIS; LETTER; PHENOTYPE; PRIORITY JOURNAL; QUALITY CONTROL; SKIN BLEEDING; STANDARDIZATION; UNITED KINGDOM; VON WILLEBRAND DISEASE;

BIOLOGICAL MARKERS; DIAGNOSTIC ERRORS; DIMERIZATION; EUROPE; HUMANS; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 54149117446     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.03090.x     Document Type: Letter

References (14)

1. Budde U, Schneppenheim R, Eikenboom J, Goodeve A, Will K, Drewke E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Pérez A, Meyer D, Mazurier C, Goudemand J, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, et al. Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). J Thromb Haemost 2008; 6: 762-71.
2. Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Hashemi Soteh M, Baronciani L, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007; 109: 112-21.
3. James PD, Paterson AD, Notley C, Cameron C, Hegadorn C, Tinlin S, Brown C, O'Brien L, Leggo J, Lillicrap D, Association of Hemophilia Clinic Directors of Canada. Genetic linkage and association analysis in type 1 von Willebrand disease: Results from the Canadian type 1 VWD study. J Thromb Haemost 2006; 4: 783-92.
4. James PD, Notley C, Hegadorn C, Leggo J, Tuttle A, Tinlin S, Brown C, Andrews C, Labelle A, Chirinian Y, O'Brien L, Othman M, Rivard G, Rapson D, Hough C, Lillicrap D. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood 2007; 109: 145-54.
5. Cumming A, Grundy P, Keeney S, Lester W, Enayat S, Guilliatt A, Bowen D, Pasi J, Keeling D, Hill F, Bolton-Maggs PH, Hay C, Collins P, the UK Haemophilia Centre Doctors'Organisation. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006; 96: 630-41.
6. Laffan M, Brown SA, Collins PW, Cumming AM, Hill FG, Keeling D, Peake IR, Pasi KJ. The diagnosis of von Willebrand disease: A guideline from the UK Haemophilia Centre Doctors'Organization. Haemophilia 2004; 10: 199-217.
7. Favaloro EJ, Bonar R, Meiring M, Street A, Marsden K (on behalf of the RCPA QAP in Haematology). 2B or not 2B? Disparate discrimination of functional VWF discordance using different assay panels or methodologies may lead to success or failure in the early identification of Type 2B VWD Thromb Haemost 2007; 98: 346-58.
8. Favaloro EJ, Bonar R, Kershaw G, Sioufi J, Baker R, Hertzberg M, Street A, Marsden K (on behalf of the RCPA QAP in Haematology). Reducing errors in identification of von Willebrand disease: The experience of the Royal college of Pathologists of Australasia Quality Assurance Program. Semin Thromb Hemost 2006; 32: 505-13.
9. Meijer P, Haverkate F. An external quality assessment program for von Willebrand factor laboratory analysis: An overview from the European concerted action on thrombosis and disabilities foundation. Semin Thromb Hemost 2006; 32: 485-91.
10. Kitchen S, Jennings I, Woods TA, Kitchen DP, Walker ID, Preston FE. Laboratory tests for measurement of von Willebrand factor show poor agreement among different centers: Results from the United Kingdom National External Quality Assessment Scheme for Blood Coagulation. Semin Thromb Hemost 2006; 32: 492-8.
11. Favaloro EJ. An update on the von Willebrand factor collagen binding (VWF:CB) assay: 21 years of age and beyond adolescence, but not yet a mature adult. Semin Thromb Hemost 2007; 33: 727-44.
12. Favaloro EJ, Koutts J. Laboratory assays for von Willebrand Factor: relative contribution to the diagnosis of von Willebrand's disease. Pathology 1997; 29: 385-91.
13. Adcock DM, Bethel M, Valcour A. Diagnosing von Willebrand disease: A large reference laboratory's perspective. Semin Thromb Hemost 2006; 32: 472-9.
14. Meiring M, Badenhorst PN, Kelderman M. Performance and utility of a cost-effective collagen-binding assay for the laboratory diagnosis of Von Willebrand disease. Clin Chem Lab Med 2007; 45: 1068-72.