Diagnosis and classification of von Willebrand disease: A review of the differential utility of various functional von Willebrand factor assays

Blood Coagulation and Fibrinolysis

Volumn 22, Issue 7, 2011, Pages 553-564

  Favaloro, Emmanuel J ^a  

^a WESTMEAD HOSPITAL   (Australia)

Author keywords

collagen binding; multimers; ristocetin cofactor; von Willebrand disease; von Willebrand disorder; von Willebrand factor; von Willebrand factor activity; von Willebrand factor collagen binding; von Willebrand factor ristocetin cofactor

Indexed keywords

BLOOD CLOTTING FACTOR 8; COLLAGEN; DESMOPRESSIN; RISTOCETIN; VON WILLEBRAND FACTOR;

BINDING AFFINITY; BINDING ASSAY; BIOASSAY; DIAGNOSTIC ERROR; DIAGNOSTIC TEST; DISEASE CLASSIFICATION; DRUG EFFECT; PHENOTYPE; PRIORITY JOURNAL; REVIEW; THROMBOCYTE AGGREGATION; VON WILLEBRAND DISEASE;

BIOLOGICAL ASSAY; BLOOD PLATELETS; COLLAGEN; DIAGNOSTIC ERRORS; FACTOR VIII; HUMANS; PHENOTYPE; PLATELET AGGREGATION; PROTEIN BINDING; RISTOCETIN; VON WILLEBRAND DISEASES; VON WILLEBRAND FACTOR;

EID: 80053578927     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32834a7e01     Document Type: Review

References (82)

1. Favaloro EJ. von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder. Semin Thromb Hemost 2011; 37: 440-455.
2. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987; 69:454-459. (Pubitemid 17022013)
3. Stonebraker JS, Bolton-Maggs PH, Soucie JM, Walker I, Brooker M. A study of variations in the reported haemophilia A prevalence around the world. Haemophilia 2010; 16:20-32.
4. Sadler JE. Low von Willebrand factor: sometimes a risk factor and sometimes a disease. Hematology Am Soc Hematol Educ Program 2009:106-112.
5. Sadler JE, Mannucci PM, Berntorp E, Bochkov N, Boulyjenkov V, Ginsburg D, et al. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000; 84:160-174. (Pubitemid 30601459)
6. Sadler JE, Budde U, Eikenboom JC, Favaloro EJ, Hill FG, Holmberg L, et al. Working party on von Willebrand disease classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the subcommittee on von Willebrand Factor. J Thromb Haemost 2006; 4:2103-2114. (Pubitemid 44403432)
7. Lippi G,Franchini M,Poli G, Salvagno GL, Montagnana M, Guidi GC. Is the activated partial thromboplastin time suitable to screen for von Willebrand factor deficiencies? Blood Coagul Fibrinolysis 2007; 18:361-364. (Pubitemid 46699414)
8. Favaloro EJ. Clinical utility of the PFA-100. Semin Thromb Hemost 2008; 34:709-733.
9. Howard MA, Firkin BG. Ristocetin: a new tool in the investigation of platelet aggregation. Thromb Diath Haemorrh 1971; 26:362-369.
10. Koutts J. A short history of diagnostic tests for von Willebrand disease: in memory of Barry Firkin (1930 to 2001) and Ted Zimmerman (1937 to 1988). Semin Thromb Hemost 2006; 32:445-455. (Pubitemid 44157382)
11. Favaloro EJ. Genetic testing for von Willebrand disease: the case against. J Thromb Haemost 2010; 8:6-12.
12. Rodeghiero F, Castaman G, Tosetto A. Optimizing treatment of von Willebrand disease by using phenotypic and molecular data. Hematology Am Soc Hematol Educ Program 2009:113-123.
13. Favaloro EJ. Towards a new paradigm for the identification and functional characterisation of von Willebrand disease. Semin Thromb Hemost 2009; 35:60-75.
14. Favaloro EJ, Bonar R, Favaloro J, Koutts J. Diagnosis and management of von Willebrand disease in Australia. Semin Thromb Hemost 2011; 37:542-554.
15. Favaloro EJ. Rethinking the diagnosis of von Willebrand disease. Thromb Res 2011; 127 (Suppl 2):S17-S21.
16. Favaloro EJ, Mohammed S, Koutts J. Identification and prevalence of von Willebrand Disease type 2N (Normandy) in Australia. Blood Coagul Fibrinolysis 2009; 20:706-714.
17. Favaloro EJ. 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 haemostasis coin? Semin Thromb Hemost 2008; 34:113-127.
18. Lippi G, Franchini M, Targher G, Poli G, Guidi GC. The significance of evaluating conventional inflammatory markers in von Willebrand factor measurement. Clin Chim Acta 2007; 381:167-170. (Pubitemid 46719152)
19. Franchini M, Capra F, Targher G, Montagnana M, Lippi G. Relationship between ABO blood group and von Willebrand factor levels: from biology to clinical implications. Thromb J 2007; 5:14.
20. Favaloro EJ, Soltani S, McDonald J, Grezchnik E, Easton L, Favaloro JWC. Reassessment of ABO-blood group, gender and age on laboratory parameters used to diagnose von Willebrand disorder (VWD): potential influence on the diagnosis versus the potential association with risk of thrombosis. Am J Clin Pathol 2005; 124:910-917. (Pubitemid 41740192)
21. Favaloro EJ, Thom J, Baker R, on behalf of the Australasian Society for Thrombosis and Haemostasis (ASTH) Emerging Technologies Group. Assessment of current diagnostic practice and efficacy in testing for von Willebrands disorder: results from the second Australasian multilaboratory survey. Blood Coagul Fibrinolysis 2000; 11:729-738.
22. 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; 32:492-498. (Pubitemid 44157387)
23. Hayes TE, Brandt JT, Chandler WL, Eby CS, Kottke-Marchant K,Krishnan J, 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. (Pubitemid 44157388)
24. Favaloro EJ, Bonar R, Marsden K, onbehalf ofthe RCPA QAP Haemostasis Committee. Lower limit of assay sensitivity: an under-recognised and significant problem in von Willebrand disease identification and classification. Clin Lab Sci 2008; 21:178-185.
25. Favaloro EJ, Lippi G, Adcock DM. Preanalytical and postanalytical variables: the leading causes of diagnostic error in haemostasis? Semin Thromb Hemost 2008; 34:612-634.
26. 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; 98:346-358. (Pubitemid 47250238)
27. Favaloro EJ, Bonar R, Kershaw G, Sioufi J, Baker R, Hertzberg M, et al., 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; 32:505-513. (Pubitemid 44157389)
28. Favaloro EJ. Laboratory identification of von Willebrand Disease: technical and scientific perspectives. Semin Thromb Hemost 2006; 32:456-471. (Pubitemid 44157383)
29. 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.
30. Othman M, Favaloro EJ. Genetics of type 2B von Willebrand disease: 'true 2B,' 'tricky 2B,' or 'not 2B.' What are the modifiers of the phenotype? Semin Thromb Hemost 2008; 34:520-531.
31. Federici AB, Mannucci PM, Castaman G, Baronciani L, Bucciarelli P, Canciani MT, 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.
32. Frontroth JP, Hepner M, Sciuccati G, Feliú Torres A, Pieroni G, Bonduel M. Prospective study of low-dose ristocetin-induced platelet aggregation to identify type 2B von Willebrand disease (VWD) and platelet-type VWD in children. Thromb Haemost 2010; 104:1158-1165.
33. Ribba AS, Loisel I, Lavergne JM, Juhan-Vague I, Obert B, Cherel G, et al. 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; 86:848-854. (Pubitemid 32834196)
34. Riddell AF, Gomez K, Millar CM, Mellars G, Gill S, Brown SA, et al. Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor. Blood 2009; 114:3489-3496.
35. Flood VH, Lederman CA, Wren JS, Christopherson PA, Friedman KD, Hoffmann RG, Montgomery RR. Absent collagen binding in a VWF A3 domain mutant: utility of the VWF:CB in diagnosis of VWD. J Thromb Haemost 2010; 8:1431-1433.
36. Melo-Nava BM, Beńitez H, Palacios JJ, Nieva B, Arenas D, Jaloma-Cruz AR, et al. Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations. Blood Cells Mol Dis 2007; 39:361-365. (Pubitemid 47484473)
37. 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. (Pubitemid 44157386)
38. Chandler WL, Peerschke EI, Castellone DD, Meijer P, on behalf of the NASCOLA Proficiency Testing Committee. von Willebrand factor assay proficiency testing: the North American Specialized Coagulation Laboratory Association experience. Am J Clin Pathol 2011; 135:862-869.
39. Favaloro EJ. 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. J Thromb Haemost 2008; 6:1999-2001.
40. 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; 33:727-744. (Pubitemid 351158442)
41. Miller CH, Platt SJ, Daniele C, Kaczor D. Evaluation of two automated methods for measurement of the ristocetin cofactor activity of von Willebrand factor. Thromb Haemost 2002; 88:56-59. (Pubitemid 34752267)
42. Lattuada A, Preda L, Sacchi E, Gallo L, Federici AB, Rossi E. A rapid assay for ristocetin cofactor activity using an automated coagulometer (ACL 9000). Blood Coagul Fibrinolysis 2004; 15:505-511. (Pubitemid 39180237)
43. Redaelli R, Corno AR, Borroni L, Mostarda G, Nichelatti M, Morra E, Baudo F. von Willebrand factor ristocetin cofactor (VWF:RCo) assay: implementation on an automated coagulometer (ACL). J Thromb Haemost 2005; 3:2684-2688. (Pubitemid 41819796)
44. StrandbergK, Lethagen S,Andersson K, Carlson M,HillarpA. Evaluation of a rapid automated assay for analysis of von Willebrand ristocetin cofactor activity. Clin Appl Thromb Hemost 2006; 12:61-67.
45. Bowyer AE, Shepherd F, Kitchen S, Makris M. A rapid, automated VWF ristocetin cofactor activity assay improves reliability in the diagnosis of von Willebrand disease. Thromb Res 2011; 127:341-344.
46. Lawrie AS, Mackie IJ, Machin SJ, Peyvandi F. Evaluation of an automated platelet-based assay of ristocetin cofactor activity. Haemophilia 2011; 17:252-256.
47. Hillarp A, Stadler M, Haderer C, Weinberger J, Kessler CM, Römisch J. Improved performance characteristics of the von Willebrand factor ristocetin cofactor activity assay using a novel automated assay protocol. J Thromb Haemost 2010; 8:2216-2223.
48. Favaloro EJ, Mohammed S, McDonald J. Validation of improved performance characteristics for the automated von Willebrand factor ristocetin cofactor activity assay. J Thromb Haemost 2010; 8:2842-2844.
49. Chen D, Daigh CA, Hendricksen JI, Pruthi RK, Nichols WL, Heit JA, Owen WG. A highly-sensitive plasma von Willebrand factor ristocetin cofactor (VWF:RCo) activity assay by flow cytometry. J Thromb Haemost 2008; 6:323-330.
50. Giannini S, Mezzasoma AM, LeoneM, Gresele P. Laboratory diagnosis and monitoring of desmopressin treatment of von Willebrands disease by flow cytometry. Haematologica 2007; 92:1647-1654. (Pubitemid 350248244)
51. Vanhoorelbeke K, Cauwenberghs N, Vauterin S, Schlammadinger A, Mazurier C, Deckmyn H. A reliable and reproducible ELISA method to measure ristocetin cofactor activity of von Willebrand factor. Thromb Haemost 2000; 83:107-113. (Pubitemid 30045485)
52. Federici AB, Canciani MT, Forza I, Mannucci PM, Marchese P, Ware J, Ruggeri ZM. A sensitive ristocetin co-factor activity assay with recombinant glycoprotein Iba for the diagnosis of patients with low von Willebrand factor levels. Haematologica 2004; 89:77-85. (Pubitemid 38165858)
53. Vanhoorelbeke K, Pareyn I, Schlammadinger A, Vauterin S, Hoylaerts MF, Arnout J, Deckmyn H. Plasma glycocalicin as a source of GPIb alpha in the von Willebrand factor in the ristocetin cofactor ELISA. Thromb Haemost 2005; 93:165-171. (Pubitemid 40124272)
54. Brown JE, Bosak JO. An ELISA test for the binding of von Willebrand antigen to collagen. Thromb Res 1986; 43:303-311. (Pubitemid 16060834)
55. Favaloro EJ, Grispo L, Exner T, Koutts J. Development of a simple collagen binding assay aids in the diagnosis of, and permits sensitive discrimination between, type I and type II von Willebrands disease. Blood Coagul Fibrinolysis 1991; 2:285-291.
56. Kempfer AC, Silaf MR, Farias CE, Carballo GA, Woods AI, Lazzari MA. Binding of von Willebrand factor to collagen by flow cytometry. Am J Clin Pathol 1999; 111:418-423. (Pubitemid 29102752)
57. Favaloro EJ. Collagen binding assay for von Willebrand factor (VWF:CBA): detection of von Willebrands disease (VWD), and discrimination of VWD subtypes, depends on collagen source. Thromb Haemost 2000; 83:127-135. (Pubitemid 30045488)
58. Favaloro EJ. von Willebrand factor assay proficiency testing continued. Am J Clin Pathol (in press).
59. Favaloro EJ. Regulation of in vitro diagnostics (IVDs) for use in Australian pathology laboratories: a gloomy outlook for future pathology testing in this country? Pathology 2011; 43:397-402.
60. Favaloro EJ, Plebani M, Lippi G. Regulation of in vitro diagnostics (IVDs) for use in clinical diagnostic laboratories: towards the light or dark in clinical laboratory testing? Clin Chem Lab Med (in press).
61. Favaloro EJ. Discrimination of von Willebrands disease (VWD) subtypes: direct comparison of commercial ELISA-based options used to detect qualitative von Willebrand factor (VWF) defects. Am J Clin Pathol 2000; 114:608-618. (Pubitemid 33044401)
62. Goodall AH, Jarvis J, Chand S, Rawlings E, O'Brien DP, McGraw A, et al. An immunoradiometric assay for human factor VIII von Willebrand factor (VIII:VWF) using a monoclonal antibody based that defines a functional epitope. Br J Haematol 1985; 59:565-577. (Pubitemid 15133647)
63. Chand S, McCraw A, Hutton R, Tuddenham EGD, Goodall AH. A two-site, monoclonal antibody based immunoassay for von Willebrand factor: demonstration that VWF function resides in a conformational epitope. Thromb Haemost 1986; 55:318-324. (Pubitemid 16074155)
64. Murdock PJ, Woodhams BJ, Mathews KB, Pasi KJ, Goodall AH. von Willebrand factor activity detected in a monoclonal antibody-based ELISA: an alternative to the ristocetin cofactor platelet agglutination assay for diagnostic use. Thromb Haemost 1997; 78:1272-1277. (Pubitemid 27464598)
65. Nitu-Whalley IC, Riddell A, Lee CA, Pasi KJ, Owens D, Enayat MS, et al. 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. (Pubitemid 32014035)
66. De Vleeschauwer A, Devreese K. Comparison of a new automated von Willebrand factor activity assay with an aggregation von Willebrand ristocetin cofactor activity assay for the diagnosis of von Willebrand disease. Blood Coagul Fibrinolysis 2006; 17:353-358. (Pubitemid 43941577)
67. Sucker C, Senft B, Scharf RE, Zotz RB. Determination of von Willebrand factor activity: evaluation of the HaemosIL assay in comparison with established procedures. Clin Appl Thromb Hemost 2006; 12:305-310. (Pubitemid 44400841)
68. Salem RO, Van Cott EM. A new automated screening assay for the diagnosis of von Willebrand disease. Am J Clin Pathol 2007; 127:730-735.
69. Pinol M,Sales M,CostaM,Tosetto A,Canciani MT, Federici AB. Evaluation of a new turbidimetric assay for von Willebrand factor activity useful in the general screening of von Willebrand disease. Haematologica 2007; 92:712-713. (Pubitemid 350144282)
70. Trossaert M, Ternisien C, Lefrancois A, Llopis L, Goudemand J, Sigaud M, et al. Evaluation of an automated von Willebrand factor activity assay in von Willebrand disease. Clin Appl Thromb Hemost 2010 Aug 19. [Epub ahead of print].
71. Rodgers SE, Lloyd JV, Mangos HM, Duncan EM, McRae SJ. Diagnosis and management of adult patients with von Willebrand disease in South Australia. Semin Thromb Hemost 2011; 37:535-541.
72. Veyradier A, Caron C, Ternisien C, Wolf M, Trossaert M, Fressinaud E, Goudemand J. Validation of the first commercial ELISA for type 2N von Willebrand's disease diagnosis. Haemophilia 2011 Mar 3. doi: 10.1111/j.1365-2516.2011.02499.x. [Epub ahead of print]
73. Favaloro EJ, Lippi G, Franchini M. Contemporary platelet function testing. Clin Chem Lab Med 2010; 48:579-598.
74. Cattaneo M. Light transmission aggregometry and ATP release for the diagnostic assessment of platelet function. Semin Thromb Hemost 2009; 35:158-167.
75. McGlasson DL, Fritsma GA. Whole blood platelet aggregometry and platelet function testing. Semin Thromb Hemost 2009; 35:168-180.
76. Favaloro EJ. Internal quality control and external quality assurance of platelet function tests. Semin Thromb Hemost 2009; 35:139-149.
77. Favaloro EJ, Thom J, Patterson D, Just S, Dixon T, Koutts J, et al. Desmopressin therapy to assist the functional identification and characterisation of von Willebrand disease: differential utility from combining two (VWF:CB and VWF:RCo) von Willebrand factor activity assays? Thromb Res 2009; 123:862-868.
78. Favaloro EJ, Thom J, Patterson D, Just S, Baccala M, Dixon T, et al. Potential supplementary utility of combined PFA-100 and functional VWF testing for the laboratory assessment of desmopressin and factor concentrate therapy in von Willebrand disease. Blood Coagul Fibrinolysis 2009; 20:475-483.
79. Adams M. Assessment of thrombin generation: useful or hype? Semin Thromb Hemost 2009; 35:104-110.
80. Favaloro EJ, Lippi G. Coagulation update: what's new in hemostasis testing? Thromb Res 2011; 127 (Suppl 2):S13-S16.
81. Salvagno GL, Berntorp E. Thrombin generation testing for monitoring hemophilia treatment: a clinical perspective. Semin Thromb Hemost 2010; 36:780-790.
82. Rugeri L, Beguin S, Hemker C, Bordet JC, Fleury R, Chatard B, et al. Thrombin-generating capacity in patients with von Willebrand's disease. Haematologica 2007; 92:1639-1646. (Pubitemid 350248243)