Advances in diagnosis of von Willebrand disease

References

• Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of prevalence of von Willebrand’s disease. Blood. 1987;69:454–459.
   PubMed Web of Science ®Google Scholar
• Werner EJ, Broxson EH, Tucker EL, et al. Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr. 1993;123:893–898.
   PubMed Web of Science ®Google Scholar
• Favaloro EJ. Von Willebrand disease: local diagnosis and management of a globally distributed bleeding disorder. Semin Thromb Hemost. 2011;37:425–426.
   Web of Science ®Google Scholar
• De Meyer SF, Deckmyn H, Vanhoorelbeke K. von Willebrand factor to the rescue. Blood. 2009;113:5049–5057.
   PubMed Web of Science ®Google Scholar
• Yee A, Kretz CA. Von Willebrand factor: form for function. Semin Thromb Hemost. 2014;40:17–27.
   PubMed Web of Science ®Google Scholar
• Mancuso DJ, Tuley EA, Westfield LA, et al. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction. Biochemistry. 1991;30:253–269.
   PubMed Web of Science ®Google Scholar
• Zhou YF, Eng ET, Zhu J, et al. Sequence and structure relationships within von Willebrand factor. Blood. 2012;120:449–458.
   PubMed Web of Science ®Google Scholar
• Haberichter SL. Biosynthesis and organization of von Willebrand factor. In: Federici AB, Lee CA, Berntorp EE, et al., editors. Von Willebrand disease: basic and clinical aspects. Oxford: Wiley-Blackwell; 2011. p. 7–29.
   Google Scholar
• Dong JF. Cleavage of ultra-large von Willebrand factor by ADAMTS-13 under flow conditions. J Thromb Haemost. 2005;3:1710–1716.
   PubMed Web of Science ®Google Scholar
• Ruggeri ZM. Structure of von Willebrand factor and its function in platelet adhesion and thrombus formation. Clin Haematol. 2001;14:257–279.
   Google Scholar
• Castaman G, Federici AB, Mannucci PM, et al. Von Willebrand’s disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment. Haematologica. 2003;88:94–108.
   PubMed Web of Science ®Google Scholar
• Federici AB. The factor VIII/von Willebrand factor complex: basic and clinical issues. Haematologica. 2003;88:EREP02.
   PubMedGoogle Scholar
• Foster PA, Fulcher CA, Marti T, et al. A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor. J Biol Chem. 1987;262:8443–8446.
   PubMed Web of Science ®Google Scholar
• Lankhof H, van Hoeij M, Schiphorst ME, et al. A3 domain is essential for interaction of von Willebrand factor with collagen type III. Thromb Haemost. 1996;75:950–958.
   PubMed Web of Science ®Google Scholar
• Hoylaerts MF, Yamamoto H, Nuyts K, et al. von Willebrand factor binds to native collagen VI primarily via its A1 domain. Biochem J. 1997;324:185–191.
   PubMed Web of Science ®Google Scholar
• Castaman G, Goodeve A, Eikenboom JC, on behalf of the European Group on von Willebrand disease (EUVWD). Principles of care for diagnosis and treatment of von Willebrand disease. Haematologica. 2013;98:667–674.
   PubMed Web of Science ®Google Scholar
• 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;4:2103–2114.
   PubMed Web of Science ®Google Scholar
• Hampshire DJ, Goodeve AC. The international society on thrombosis and haemostasis von Willebrand disease database: an update. Semin Thromb Hemost. 2011;37:470–479.
   PubMed Web of Science ®Google Scholar
• O’Donnel J, Laffan MA. The relationship between ABO histo-blood group, factor VIII and von Willebrand factor. Transfus Med. 2001;11:343–351.
   PubMed Web of Science ®Google Scholar
• Albanez S, Ogiwara K, Michels A, et al. Aging and ABO blood type influence von Willebrand factor and factor VIII levels through interrelated mechanisms. J Thromb Haemost. 2016;14:953–963.
   PubMed Web of Science ®Google Scholar
• Sadler JE. Slippery criteria for von Willebrand disease type 1. J Thromb Haemost. 2004;2:1720–1723.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost. 2006;4:766–773.
   PubMed Web of Science ®Google Scholar
• Goodeve A, Eikenboom J, Castaman G, 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;109:112–121.
   PubMed Web of Science ®Google Scholar
• Rodeghiero F, Tosetto A, Abshire T, et al. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost. 2010;8:2063–2065.
   PubMed Web of Science ®Google Scholar
• Elbatarny M, Mollah S, Grabell J, et al. Normal range of bleeding scores for the ISTH-BAT: adult and pediatric data from the merging project. Haemophilia. 2014;20:831–835.
   PubMed Web of Science ®Google Scholar
• Kundu SK, Heilmann EJ, Sio R, et al. Description of an in vitro platelet function analyzer – PFA-100. Semin Thromb Haemost. 1995;21:106–112.
   PubMed Web of Science ®Google Scholar
• Dean JA, Blanchette VS, Carcao MD, et al. von Willebrand disease in a pediatric-based population – comparison of type 1 diagnostic criteria and use of the PFA-100 and a von Willebrand factor/collagen-bindingassay. Thromb Haemost. 2000;84:401–409.
   PubMed Web of Science ®Google Scholar
• Favaloro EJ. The Platelet Function Analyser (PFA)‐100 and von Willebrand disease: a story well over 16 years in the making. Haemophilia. 2015;21:642–645.
   PubMed Web of Science ®Google Scholar
• Ardillon L, Ternisien C, Fouassier M, et al. Platelet function analyser (PFA‐100) results and von Willebrand factor deficiency: a 16‐year ‘real‐world’ experience. Haemophilia. 2015;21:646–652.
   PubMed Web of Science ®Google Scholar
• Nilsson IM, Magnusson S, Borchgrevink C. The Duke and Ivy methods for determination of the bleeding time. Thromb Diath Haemorrh. 1963;10:223–234.
   PubMedGoogle Scholar
• Castaman G, Tosetto A, Cappelletti A, et al. Validation of a rapid test (VWF-LIA) for the quantitative determination of the von Willebrand factor antigen in type 1 von Willebrand disease diagnosis within the European multicenter study MCMDM-1VWD. Thromb Res. 2010;126:227–231.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Flood VH, Gill JC, Morateck PA, et al. Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor. Blood. 2010;116:280–286.
   PubMed Web of Science ®Google Scholar
• Vanhoorelke 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.
   PubMed Web of Science ®Google Scholar
• Murdock PJ, Woodhams BJ, Matthews KB, et al. Von Willebrand factor activity detected in a monoclonal antibody-based ELISA: an alternative to ristocetin cofactor platelet agglutination assay for diagnostic use. Thromb Haemost. 1997;78:1272–1277.
   PubMed Web of Science ®Google Scholar
• Verfaillie CJ, De Witte E, Devreese KM. Validation of a new panel of automated chemiluminescence assays for von Willebrand factor antigen and activity in the screening for von Willebrand disease. Int J Lab Hematol. 2013;35:555–565.
   PubMed Web of Science ®Google Scholar
• Patzke J, Budde U, Huber A, et al. Performance evaluation and multicentre study of a von Willebrand factor activity assay based on GPIb binding in the absence of ristocetin. Blood Coagul Fibrinolysis. 2014;25:860–870.
   PubMed Web of Science ®Google Scholar
• Bodó I, Eikenboom J, Montgomery R, et al. Platelet-dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH. J Thromb Haemost. 2015;13:1345–1350.
   PubMed Web of Science ®Google Scholar
• Flood VH, Abshire TC, Christopherson PA, et al. Von Willebrand disease in the United States: perspective from the Zimmerman program. Ann Blood. 2018;3:7–7. Epub 2018 Jan 26.
   PubMedGoogle Scholar
• Meijer P. ECAT foundation – external quality control for assays and test with a focus on thrombosis and haemostasis survey. ECAT release. 2017;M1:66–69.
   Google Scholar
• Boender J, Eikenboom J, van der Bom JG, et al. Clinically relevant differences between assays for von Willebrand factor activity. J Thromb Haemost. 2018;16:2413–2424.
   PubMed Web of Science ®Google Scholar
• Ruggeri ZM, Zimmerman TS. Variant von Willebrand’s disease: characterization of two subtypes by analysis of multimeric composition of FVIII/von Willebrand factor in plasma and platelets. J Clin Invest. 1980;65:1318–1325.
   PubMed Web of Science ®Google Scholar
• 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 Pract Thromb Haemost. 2018;2:790–799.
   PubMed Web of Science ®Google Scholar
• Favaloro EJ, Bonar R, Hollestelle MJ, et al. Differential sensitivity of von Willebrand factor activity assays to reduced VWF molecular weight forms: a large international cross-laboratory study. Thromb Res. 2018;166:96–105.
   PubMed Web of Science ®Google Scholar
• Favaloro EJ, Grispo L, Exner T, et al. Development of a simple collagen based ELISA assay aids in the diagnosis of, and permits sensitive discrimination between type I and II, von Willebrand’s disease. Blood Coagul Fibrinolysis. 1991;2:285–291.
   PubMed Web of Science ®Google Scholar
• Jousselme E, Jourdy Y, Rugeri L, et al. Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF. Int J Lab Hematol. 2018;40:77–83.
   PubMed Web of Science ®Google Scholar
• Keesler DA, Flood VH. Current issues in diagnosis and treatment of von Willebrand disease. Res Pract Thromb Haemost. 2018;2:34–41.
   PubMed Web of Science ®Google Scholar
• Pareti FI, Niiya K, McPherson JM, et al. Isolation and characterization of two domains of human von Willebrand factor that interact with fibrillar collagen types I and III. J Biol Chem. 1987;262:13835–13841.
   PubMed Web of Science ®Google Scholar
• Favaloro EJ. Toward a new paradigm for the identification and functional characterization of von Willebrand disease. Semin Thromb Hemost. 2009;35:60–75.
   PubMed Web of Science ®Google Scholar
• Ribba AS, Loisel I, Lavergne JM, 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.
   PubMed Web of Science ®Google Scholar
• Riddell AF, Gomez K, Millar CM, 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.
   PubMed Web of Science ®Google Scholar
• Flood VH, Gill JC, Christopherson PA, et al. Critical von Willebrand factor A1 domain residues influence type VI collagen binding. J Thromb Haemost. 2012;10:1417–1424.
   PubMed Web of Science ®Google Scholar
• Nishino M, Girma JP, Rothschild C, et al. New variant of von Willebrand disease with defective binding to factor VIII. Blood. 1989;74:1591–1599.
   PubMed Web of Science ®Google Scholar
• Haberichter SL, Balistreri M, Christopherson R, et al. Assay of the von Willlebrand factor (VWF) propeptide to identify type 1 von Willebrand disease patients with decreased VWF survival. Blood. 2006;108:3344–3351.
   PubMed Web of Science ®Google Scholar
• Mannucci PM, Lombardi R, Castaman G, et al. von Willebrand disease “Vicenza” with larger-than-normal (supranormal) von Willebrand factor multimers. Blood. 1988;71:65–70.
   PubMed Web of Science ®Google Scholar
• Casonato A, Pontara E, Sartorello F, et al. Reduced von Willebrand factor survival in type Vicenza von Willebrand disease. Blood. 2002;99:180–184.
   PubMed Web of Science ®Google Scholar
• Bellissimo DB, Christopherson PA, Flood VH, et al. VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population. Blood. 2012;119:2135–2140.
   PubMed Web of Science ®Google Scholar
• James PD, Notley C, Hegardon C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood. 2007;109:145–154.
   PubMed Web of Science ®Google Scholar
• Goodeve AC. The genetic basis of von Willebrand disease. Blood Rev. 2010;24:123–134.
   PubMed Web of Science ®Google Scholar