Semi-automated von Willebrand factor multimer assay for von Willebrand disease: Further validation, benefits and limitations.
Hydragel
Multimers
desmopressin
von Willebrand disease
von Willebrand factor
Journal
International journal of laboratory hematology
ISSN: 1751-553X
Titre abrégé: Int J Lab Hematol
Pays: England
ID NLM: 101300213
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
25
06
2019
revised:
31
07
2019
accepted:
21
08
2019
pubmed:
12
9
2019
medline:
3
4
2020
entrez:
12
9
2019
Statut:
ppublish
Résumé
Accurate diagnosis of von Willebrand disease (VWD) enables effective patient management. von Willebrand factor (VWF) multimer analysis provides useful information regarding VWF multimer structure, thereby aiding VWD subtyping and management; however, historically technically challenging assays have had limited utility. This study evaluates the Sebia Hydrasys Hydragel-11 semi-automated VWF multimer assay and further validates the Hydragel-5 gel system, as primarily pertaining to VWD diagnostics and monitoring of therapy. Provisionally diagnosed (via a reference assay test panel) archived patient samples and prospective test patient samples, including those undergoing desmopressin trial or therapy monitoring, along with commercial and in-house control material and various external quality assessment (EQA) samples, were analysed. VWF multimers were evaluated for presence, loss or partial loss of high molecular weight (HMWM) and intermediate molecular weight (IMWM) multimers by both visual inspection and densitometric scanning, and comparison with reference assay results. All anticipated multimer patterns were reproduced, with patients generally showing multimer profiles matching expected patterns according to VWD type based on reference test panel 'diagnosis'. Occasional discrepancies were resolved by retesting. The increase in plasma VWF following desmopressin therapy was also clearly demonstrated. Multimer profiles of EQA samples complemented reference test panel results and matched EQA targets. There were some 'technical' limitations noted. This easy to use, standardised, semi-automated multimer analysis system can demonstrate the multimer profile of VWD patients, thus representing an additional laboratory tool for improved diagnosis, thereby facilitating appropriate patient management.
Substances chimiques
von Willebrand Factor
0
Deamino Arginine Vasopressin
ENR1LLB0FP
Types de publication
Evaluation Study
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
762-771Informations de copyright
© 2019 John Wiley & Sons Ltd.
Références
Bowman M, Hopman WM, Rapson D, Lillicrap D, James P. The prevalence of symptomatic von Willebrand disease in primary care practice. J Thromb Haemost. 2010;8(1):213-216.
Sadler JE, Budde U, Eikenboom J, 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(10):2103-2114.
Laffan MA, Lester W, O'Donnell JS, et al. The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology. Br J Haematol. 2014;167(4):453-465.
Favaloro EJ, Pasalic L, Curnow J. Laboratory tests used to help diagnose von Willebrand disease: an update. Pathology. 2016;48(4):303-318.
Curnow J, Pasalic L, Favaloro E. Treatment of von Willebrand Disease. Semin Thromb Hemost. 2016;42(2):133-146.
Favaloro E, Pasalic L, Curnow J. Monitoring therapy during treatment of von Willebrand Disease. Semin Thromb Hemost. 2017;43(3):338-354.
Bowman ML, James PD. Controversies in the diagnosis of Type 1 von Willebrand disease. Int J Lab Hematol. 2017;39(S1):61-68.
Favaloro EJ. Diagnosis or exclusion of von willebrand disease using laboratory testing. Methods Mol Biol. 2017;1646:391-402.
Schneppenheim R. The pathophysiology of von Willebrand disease: therapeutic implications. Thromb Res. 2011;128:S3-S7.
Ledford-Kraemer MR. Analysis of von Willebrand factor structure by multimer analysis. Am J Hematol. 2010;85(7):510-514.
Kannicht C, Fisseau C, Hofmann W, Kröning M, Fuchs B. ADAMTS13 content and VWF multimer and triplet structure in commercially available VWF/FVIII concentrates. Biologicals. 2015;43(2):117-122.
Ott HW, Griesmacher A, Schnapka-Koepf M, et al. Analysis of von Willebrand factor multimers by simultaneous high- and low-resolution vertical SDS-agarose gel electrophoresis and cy5-labeled antibody high-sensitivity fluorescence detection. Am J Clin Pathol. 2010;133(2):322-330.
Reininger AJ. Function of von Willebrand factor in haemostasis and thrombosis. Haemophilia. 2008;14:11-26.
Swystun LL, James PD. Genetic diagnosis in hemophilia and von Willebrand disease. Blood Rev. 2017;31(1):47-56.
Batlle J, Perez-Rodriguez A, Corrales I, et al. Update on Molecular Testing in von Willebrand Disease. Semin Thromb Hemost. 2019. https://doi.org/10.1055/s-0039-1679922.
Favaloro EJ, Bonar RA, Meiring M, et al. Evaluating errors in the laboratory identification of von Willebrand disease in the real world. Thromb Res. 2014;134(2):393-403.
Favaloro EJ, Bonar RA, Mohammed S, et al. Type 2M von Willebrand disease - more often misidentified than correctly identified. Haemophilia. 2016;22(3):e145-e155.
Chandler W, Peerschke E, Castellone D, Meijer P. von Willebrand Factor Assay proficiency testing: the North American specialized coagulation laboratory association experience. Am J Clin Pathol. 2011;135(6):862-869.
Keesler DA, Flood VH. Current issues in diagnosis and treatment of von Willebrand disease. Res Practice Thromb Haemost. 2018;2:34-41.
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(05):485-491.
Favaloro EJ, Oliver S. Evaluation of a new commercial von Willebrand factor multimer assay. Haemophilia. 2017;23(4):e373.
Oliver S, Lau K, Chapman K, Favaloro EJ. Laboratory testing for Von Willebrand factor multimers. Methods Mol Biol. 2017;1646:495-511.
Pikta M, Zemtsovskaja G, Bautista H, et al. Preclinical evaluation of a semi-automated and rapid commercial electrophoresis assay for von Willebrand factor multimers. J Clin Lab Anal. 2018;32(6):e22416.
Bowyer AE, Goodfellow KJ, Seidel H, et al. Evaluation of a semi-automated von Willebrand factor multimer assay, the Hydragel 5 von Willebrand multimer, by two European Centers. Res Practice Thromb Haemost. 2018;2(4):790-799.
Favaloro EJ, Mohammed S. Evaluation of a von Willebrand factor three test panel and chemiluminescent-based assay system for identification of, and therapy monitoring in, von Willebrand disease. Thromb Res. 2016;141:202-211.
Favaloro EJ, Mohammed S, Patzke J. Laboratory Testing for von Willebrand Factor Antigen (VWF:Ag). Methods Mol Biol. 2017;1646:403-416.
Mohammed S, Favaloro EJ. Laboratory Testing for von Willebrand Factor Ristocetin Cofactor (VWF:RCo). Methods Mol Biol. 2017;1646:435-451.
Patzke J, Favaloro EJ. Laboratory Testing for von Willebrand Factor Activity by Glycoprotein Ib Binding Assays (VWF:GPIb). Methods Mol Biol. 2017;1646:453-460.
Favaloro EJ, Mohammed S. Laboratory Testing for von Willebrand Factor Collagen Binding (VWF:CB). Methods Mol Biol. 2017;1646:417-433.
Favaloro EJ. Utility of the von Willebrand factor collagen binding assay in the diagnosis of von Willebrand disease. Am J Hematol. 2017;92(1):114-118.
Frontroth JP, Favaloro EJ. Ristocetin-Induced Platelet Aggregation (RIPA) and RIPA Mixing Studies. Methods Mol Biol. 2017;1646:473-494.
Sebia. Hydragel 11 von Willebrand Multimers. Sebia Products 2015; Product description. Available at: https://www.sebia.com/en-EN/produits/hydragel-11-von-willebrand-multimers. Accessed March 6, 2019.
Furlan M, Robles R, Affolter D, Meyer D, Baillod P, Lammle B. Triplet Structure of von Willebrand Factors reflect proteolytic degradation of high molecular weight multimers. Proc Natl Acad Sci USA. 1993;90(16):7503-7507.
Larsen DM, Haberichter SL, Gill JC, Shapiro AD, Flood VH. Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease. Haemophilia. 2013;19(4):590-594.
Crist RA, Heikal NM, Rodgers GM, Grenache DG, Smock KJ. Evaluation of a new commercial method for von Willebrand factor multimeric analysis. Int J Lab Hematol. 2018;40(5):586-591.
Flood VH, Gill JC, Friedman KD, et al. Collagen binding provides a sensitive screen for variant von Willebrand disease. Clin Chem. 2013;59(4):684.
Favaloro E, Pasalic L, Curnow J. Type 2M and Type 2A von Willebrand disease: similar but different. Semin Thromb Hemost. 2016;42(05):483-497.
Favaloro EJ, Lippi G. Recent advances in mainstream hemostasis diagnostics and coagulation testing. Semin Thromb Hemost. 2019;45(3):228-246.