A novel flow cytometry single tube bead assay for quantitation of von Willebrand factor antigen and collagen-binding

Ashraf Mina; Emmanuel J. Favaloro; Jerry Koutts

doi:10.1160/TH12-05-0294

Thrombosis and Haemostasis, Inhaltsverzeichnis

Thromb Haemost 2012; 108(05): 999-1005
DOI: 10.1160/TH12-05-0294

New Technologies, Diagnostic Tools and Drugs

Schattauer GmbH

A novel flow cytometry single tube bead assay for quantitation of von Willebrand factor antigen and collagen-binding

Ashraf Mina

¹Department of Endocrinology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, New South Wales, Australia

²University of Sydney, Westmead Hospital, New South Wales, Australia

,

Emmanuel J. Favaloro

³Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, New South Wales, Australia

,

Jerry Koutts

³Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Westmead Hospital, New South Wales, Australia

› Institutsangaben

Abstract

Summary

Deficiency of or defects in the plasma protein von Willebrand factor (VWF) lead to bleeding and von Willebrand disease (VWD), which may be congenital or acquired. VWD is considered the most common inherited bleeding disorder and laboratory testing for VWF level and activity is critical for appropriate diagnosis and management. We have designed and established a novel Flow Cytometry (FC) based method for measuring VWF antigen (VWF:Ag) and collagen binding (VWF:CB), together in the same tube and at the same time. The results of the novel FC method have been compared against existing reference methods using a range of normal and pathological material. Methods correlated well (VWF:Ag, r=0.866; VWF:CB, r=0.888) and generally permitted similar discrimination of quantitative versus qualitative VWD types (e.g. type 1 vs type 2A or 2B VWD). The novel procedure is expected to permit future streamlined performance of VWD screening, either using stand-alone FC systems or potentially incorporated into FC-capable automated blood cell and particle counters to allow for improved, automated and faster identification or exclusion of VWD.

Keywords

Von Willebrand factor - von Willebrand disease - VWF - VWD - collagen binding

Volltext

Referenzen

References
1 Favaloro EJ. Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder. Semin Thromb Hemost 2011; 37: 440-455.
2 Sadler JE, Budde U, Eikenboom JC. 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: 2103-2014.
3 Favaloro EJ, Bonar R, Favaloro J. et al. Diagnosis and management of von Willebrand disease in Australia. Semin Thromb Hemost 2011; 37: 542-554.
4 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 Hemost 2007; 33: 727-744.
5 Favaloro EJ. Diagnosis and classification of von Willebrand disease: a review of the differential utility of various functional von Willebrand factor assays. Blood Coagul Fibrinolysis 2011; 22: 553-564.
6 Favaloro EJ, Bonar R, Chapman K. et al. Differential sensitivity of von Willebrand factor (VWF) 'activity' assays to large and small VWF molecular weight forms: a cross-laboratory study comparing ristocetin cofactor, collagen-binding and mAb-based assays. J Thromb Haemost 2012; 10: 1043-1054.
7 Favaloro EJ, Bonar R, Kershaw G. et al. 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: 505-513.
8 Favaloro EJ. Von Willebrand factor collagen-binding (activity) assay in the diagnosis of von Willebrand disease: a 15-year journey. Semin Thromb Hemost 2002; 28: 191-202.
9 Favaloro EJ. Laboratory monitoring of therapy in von Willebrand disease: efficacy of the PFA-100 and von Willebrand factor:collagen-binding activity as coupled strategies. Semin Thromb Hemost 2006; 32: 566-576.
10 Favaloro EJ. Evaluation of commercial von Willebrand factor collagen binding assays to assist the discrimination of types 1 and 2 von Willebrand disease. Thromb Haemost 2010; 104: 1009-1021.
11 Nichols WL, Hultin 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.
12 Favaloro EJ, Bonar R, Marsden K. Lower limit of assay sensitivity: an under-recognised and significant problem in von Willebrand disease identification and classification. Clin Lab Sci 2008; 21: 178-183.
13 Kempfer AC, Silaf MR, Farias CE. et al. Binding of von Willebrand factor to collagen by flow cytometry. Am J Clin Pathol 1999; 111: 418-423.
14 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.
15 Favaloro EJ, Koutts J. 2B or not 2B? Masquerading as von Willebrand disease?. J Thromb Haemost 2012; 10: 317-319.
16 Chen D, Daigh CA, Hendricksen JI. et al. A highly-sensitive plasma von Willebrand factor ristocetin cofactor (VWF:RCo) activity assay by flow cytometry. J Thromb Haemost 2008; 6: 323-330.
17 Giannini S, Mezzasoma AM, Leone M. et al. Laboratory diagnosis and monitoring of desmopressin treatment of von Willebrand's disease by flow cytometry. Haematologica 2007; 92: 1647-1654.
18 Bernhard D, Csordas A, Henderson B. et al. Cigarette smoke metal-catalyzed protein oxidation leads to vascular endothelial cell contraction by depolymerization of microtubules. FASEB J 2005; 19: 1096-1107.
19 Favaloro EJ, Thom J, Baker R. Assessment of current diagnostic practice and efficacy in testing for von Willebrand's disorder: results from the second Australasian multi-laboratory survey. Blood Coagul Fibrinolysis 2000; 11: 729-737.
20 Kitchen S, Jennings I, Woods TA. et al. 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: 492-498.
21 Hayes TE, Brandt JT, Chandler WL. et al. External peer review quality assurance testing in von Willebrand disease: the recent experience of the United States College of American Pathologists proficiency testing program. Semin Thromb Hemost 2006; 32: 499-504.
22 Favaloro EJ, Bonar R, Meiring M. et al. K. 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: 346-358.
23 Favaloro EJ. Laboratory identification of von Willebrand disease: technical and scientific perspectives. Semin Thromb Hemost 2006; 32: 456-471.
24 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: 485-491.
25 Chandler WL, Peerschke EI, Castellone DD. et al. Von Willebrand factor assay proficiency testing. The North American Specialized Coagulation Laboratory Association experience. Am J Clin Pathol 2011; 135: 862-869.
26 Vanhoorelbeke K, Cauwenberghs N, Vauterin S. et al. A reliable and reproducible ELISA method to measure ristocetin cofactor activity of von Willebrand factor. Thromb Haemost 2000; 83: 107-113.
27 Federici AB, Canciani MT, Forza I. et al. A sensitive ristocetin co-factor activity assay with recombinant glycoprotein Ibalpha for the diagnosis of patients with low von Willebrand factor levels. Haematologica 2004; 89: 77-85.
28 Vanhoorelbeke K, Pareyn I, Schlammadinger A. et al. Plasma glycocalicin as a source of GPIbalpha in the von Willebrand factor ristocetin cofactor ELISA. Thromb Haemost 2005; 93: 165-171.
29 Favaloro EJ. Diagnosis and classification of von Willebrand disease: a review of the differential utility of various functional von Willebrand factor assays. Blood Coagul Fibrinolysis 2011; 22: 553-564.
30 Giannini S, Cecchetti L, Mezzasoma AM. et al. Diagnosis of platelet-type von Willebrand disease by flow cytometry. Haematologica 2010; 95: 1021-1024.