Diagnosis and treatment of von Willebrand disease: New perspectives and nuances

Haemophilia

Volumn 13, Issue SUPPL. 5, 2007, Pages 3-14

  Kessler, C M ^a  

^a GEORGETOWN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 8 CONCENTRATE; DESMOPRESSIN; DESMOPRESSIN ACETATE; KOATE DVI; RISTOCETIN; UNCLASSIFIED DRUG; VON WILLEBRAND FACTOR; VON WILLEBRAND FACTOR CLEAVING PROTEINASE; WILATE; WILFACTIN;

AUTOSOMAL INHERITANCE; BLEEDING; BLEEDING TIME; BLOOD SAMPLING; DIAGNOSTIC ACCURACY; DRUG RESPONSE; FALSE POSITIVE RESULT; FAMILY HISTORY; GENE MUTATION; GENETIC ENGINEERING; HUMAN; IMMUNOASSAY; LABORATORY DIAGNOSIS; LOW DRUG DOSE; MOLECULAR WEIGHT; NONHUMAN; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; REVIEW; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE AGGREGATION; THROMBOCYTE DYSFUNCTION; THROMBOCYTOPATHY; VON WILLEBRAND DISEASE;

EID: 37149050875     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2007.01581.x     Document Type: Review

References (41)

1. Von Willebrand E. Herediťr pseudohemofili. Finska Lakaresallsk Handl 1926; 5: 7-112.
2. Pruthi RK. A practical approach to genetic testing for von Willebrand Disease. Mayo Clin Proc 2006; 81: 679-91.
3. Jorpes JE. E A von Willebrand och von Willebrands sjukdom. Nordisk Medicin, Stockholm 1962; 67: 729-32.
4. Sadler JE. Von Willebrand disease type 1: A diagnosis in search of a disease. Blood 2003; 101: 2089-93.
5. Consensus guidelines for the diagnosis and treatment of von Willebrand disease. National Heart, Lung, and Blood Institute. Haemophilia 2008 (in press).
6. 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: 766-73.
7. 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: 766-73.
8. Satoh Y, Kita H, Kihira K et.al. Gastrointestinal angiodysplasia in a patient with type 2 von Willebrand's disease and analysis of exon 28 of the von Willebrand factor gene. Am J Gastroenterol 2004; 99: 2495-8.
9. Iannuzzi Mc, Hidaka N, Boehnke M et.al. Analysis of the relationship of von Willebrand and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (lle865 to Thr). Am J Hum Genet 1991; 48: 757-63.
10. Sadler JE. New concepts in von Willebrand disease. Annu Rev Med 2005; 56: 173-91.
11. Federici AB. Management of von Willebrand disease with factor VIII/von Willebrand factor concentrates: Results from current studies and surveys. Blood Coagul Fibrinolysis 2005; 16 (Suppl. 1): S17-21.
12. Franchini M. The platelet-function analyzer (PFA-100) for evaluating primary hemostasis. Hematology 2005; 10: 177-81.
13. Franchini M. The platelet function analyzer (PFA-100): An update on its clinical use. Clin Lab 2005; 51: 367-72.
14. Favaloro EJ. The utility of the PFA-100 in the identification of von Willebrand Disease: A concise review. Semin Thromb Hemost 2006; 32: 537-45.
15. Quiroga T, Goycoolea M, Munoz B et.al. Template bleeding time and PFA-100 have low sensitivity to screen patients with hereditary mucocutaneous hemorrhages:cOmparative study in 148 patients. J Thromb Haemost 2004; 2: 892-8.
16. 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 binding assay. Thromb Haemost 2000; 84: 401-9.
17. Posan E, McBane RD, Grill DE, Motsko CL, Nichols WL. Comparison of PFA-100 testing and bleeding time for detecting platelet dysfunction and von Willebrand disease in clinical practice. Thromb Haemost 2003; 90: 483-90.
18. James AH, Lukes AS, Brancazio LR, Thames E, Ortel TL. Use of a new platelet function analyzer to detect von Willebrand disease in women with menorrhagia. Am J Obstet Gynecol 2004; 191: 449-55.
19. Kitchen S, Jennings I, Woods TAL, 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.
20. Favaloro EJ. Laboratory identification of von Willebrand Disease: technical and scientific perspectives. Semin Thromb Hemost 2006; 32: 456-71.
21. 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: 505-13.
22. Adcock DM, Behtel M, Valcour A. Diagnosing von Willebrand disease: A large reference laboratory's perspective. Semin Thromb Hemost 2006; 32: 472-9.
23. Federici AB, Canciani MT, Forza I, Cozzi G. Ristocetin cofactor and collagen binding activities normalized to antigen levels for a rapid diagnosis of type 2 von Willebrand disease. Thromb Haemost 2000; 84: 1127-9.
24. Favaloro EJ, Mehrabani PA. Laboratory assessment of von Willebrand factor: Differential influence of prolonged ambient temperature specimen storage on assay results. Haemophilia 1996; 2: 218-23.
25. Favaloro EJ, Soltani S, McDonald J. Potential laboratory misdiagnosis of haemophilia and von Willebrand disorder due to cold activation of blood samples for testing. Am J Clin Pathol 2004; 122: 686-92.
26. Böhm M, Täscher S, Kretzchmar E, Gerlach R, Favaloro EJ, Scharrer I. Cold storage of citrated whole blood induces drastic time-dependent losses in factor VIII and von Willebrand factor: potential for misdiagnosis of haemophilia and von Willebrand disease. Blood Coagul Fibrinolysis 2006; 17: 39-45.
27. Harvey PJ, Kieghtley AM, Lam WM, Cameron C, Lilicrap D. A single nucleotide polymorphism at nucleotide -1793 in the von Willebrand factor regulatory region is associated with plasma VWF:AG levels. Br J Haematol 2000; 109: 349-53.
28. Klemm T, Mehnert AK, Siegemund A et.al. Impact of the Thr789Ala variant of the von Willebrand factor on ristocetin co-factor levels and collagen binding capacity and its association with coronary heart disease in patients with diabetes mellitus type 2. Exp Clin Endocrinol Diabetes 2005; 113: 568-72.
29. Bowen DJ, Collins PW. An amino acid polymorphism in the von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood 2004; 103: 941-7.
30. Federici AB, Mazurier C, Berntorp E et.al. Biologic response to desmopressin in patients with sever type 1 and type 2 von Willebrand disease: Results of a multicenter European study. Blood 2004; 103: 2032-8.
31. Michiels JJ, Vande Velde A, van Vilet HHDM. Response of von Willebrand factor parameters to desmopressin in patients with type 1 and type 2 congenital von Willebrand disease: Diagnostic and therapeutic implications. Semin Thromb Hemost 2002; 28: 111-31.
32. Casonato A, Pontara E, Doria A. Reduced von Willebrand factor survival in type Vecenza von Willebrand disease. Blood 2002; 99: 180-4.
33. Schneppenheim R. The evolving classification of von Willebrand disease. Blood Coagul Fibrinolysis 2005; 0(Suppl. 1): S3-10.
34. James PD, Notley C, Hegadorn C et.al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood 2007; 109: 145-54.
35. Goodeve A, Hashemi M, Castaman GC. Mutation profile in patients diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical mariers for the diagnosis and management of type 1 VWD. J Thromb Haemost 2005; 3(Suppl. 1): Abst OR281.
36. Sadler JE, Bude U, Eikenboom JCJ 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: 2103-14.
37. Federici AB. Management of von Willebrand disease with factor VIII/von Willebrand factor concentrates: Results from current studies and surveys. Blood Coagul Fibrinolysis 2005; 16(Suppl. 1): S17-21.
38. Borel-Derlon A, Federici AB, Roussel-Robert V et.al. Treatment of severe von Willebrand disease with a high-purity von Willebrand factor concentrate (Wilfactin): A prospective study of 50 patients. J Thromb Haemost 2007; 5: 1115-24.
39. Schwarz HP, Dorner F, Mitterer A et.al. Evaluation of recombinant von Willebrand factor in a canine model of von Willebrand disease. Haemophilia 1998; 4(Suppl. 3): 53-62.
40. Stoddart JH, Andersen J, Lynch DC. Clearance of normal and type 2A von Willebrand factor in the rat. Blood 1996; 88: 1692-9.
41. Roussi J, Turecek PL, Andre P et.al. Effects of human recombinant, plasma-derived and porcine von Willebrand factor in pigs with severe von Willebrand disease. Blood Coagul Fibrinolysis 1998; 9: 361-72.