How I treat type 2 variant forms of von Willebrand disease

Blood

Volumn 125, Issue 6, 2015, Pages 907-914

  Tosetto, Alberto ^a   Castaman, Giancarlo ^b  

^a SAN BORTOLO HOSPITAL   (Italy)

^b CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ATORVASTATIN; BLOOD CLOTTING FACTOR 8 CONCENTRATE; DESMOPRESSIN; FRESH FROZEN PLASMA; OCTREOTIDE; TRANEXAMIC ACID; ARGIPRESSIN[1 DEAMINO]; BLOOD CLOTTING FACTOR 8; DRUG COMBINATION; FACTOR VIII, VON WILLEBRAND FACTOR DRUG COMBINATION; HEMOSTATIC AGENT; VON WILLEBRAND FACTOR;

ADULT; AGED; ARTICLE; CASE REPORT; CHILD; COST EFFECTIVENESS ANALYSIS; CRYOPRECIPITATE; DRUG HALF LIFE; DRUG SAFETY; EPISTAXIS; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC COUNSELING; GINGIVA BLEEDING; HEADACHE; HEMOGLOBIN BLOOD LEVEL; HUMAN; HYPONATREMIA; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUALITY OF LIFE; RISK FACTOR; SINGLE DRUG DOSE; TACHYCARDIA; THROMBOCYTE AGGLUTINATION; THROMBOCYTE FUNCTION; TOOTH EXTRACTION; VON WILLEBRAND DISEASE; COMPLICATION; DRUG COMBINATION; DRUG EFFECTS; GENETICS; HEMORRHAGE; HEMOSTASIS; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; VON WILLEBRAND DISEASE, TYPE 2;

ADULT; AGED; CHILD, PRESCHOOL; DEAMINO ARGININE VASOPRESSIN; DRUG COMBINATIONS; FACTOR VIII; FEMALE; HEMORRHAGE; HEMOSTASIS; HEMOSTATICS; HUMANS; MALE; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; VON WILLEBRAND DISEASE, TYPE 2; VON WILLEBRAND FACTOR;

EID: 84922351654     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2014-08-551960     Document Type: Article

References (76)

1. Reininger AJ, Heijnen HF, Schumann H, Specht HM, Schramm W, Ruggeri ZM. Mechanism of platelet adhesion to von Willebrand factor and microparticle formation under high shear stress. Blood. 2006; 107(9): 3537-3545.
2. Wang J-W, Bouwens EAM, Pintao MC, et al. Analysis of the storage and secretion of von Willebrand factor in blood outgrowth endothelial cells derived from patients with von Willebrand disease. Blood. 2013; 121(14): 2762-2772.
3. Moake JL, Turner NA, Stathopoulos NA, Nolasco LH, Hellums JD. Involvement of large plasma von Willebrand factor (vWF) multimers and unusually large vWF forms derived from endothelial cells in shear stress-induced platelet aggregation. J Clin Invest. 1986; 78(6): 1456-1461.
4. Foster PA, Fulcher CA, Marti T, Titani K, Zimmerman TS. A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor. J Biol Chem. 1987; 262(18): 8443-8446.
5. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood. 1987; 69(2): 454-459.
6. Castaman G, Rodeghiero F. The epidemiology of von Willebrand disease. In: Federici AB, Lee CA, Berntorp E, Lillicrap D, Montgomery RR, eds. Von Willebrand Disease Basic and Clinical Aspects. Oxford: Wiley-Blackwell; 2011: 137-147.
7. Meyer D, Fressinaud E, Gaucher C, et al.; INSERM Network on Molecular Abnormalities in von Willebrand Disease. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: from the patient to the gene. Thromb Haemost 1997; 78(1): 451-456.
8. Goodeve AC The genetic basis of von Willebrand disease. Blood Rev. 2010; 24(3): 123-134.
9. Macfarlane DE, Stibbe J, Kirby EP, Zucker MB, Grant RA, McPherson J. Letter: a method for assaying von Willebrand factor (ristocetin cofactor). Thromb Diath Haemorrh. 1975; 34(1): 306-308.
10. 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(3): 848-854.
11. Flood VH, Gill JC, Friedman KD, et al.; Zimmerman Program Investigators. Collagen binding provides a sensitive screen for variant von Willebrand disease. Clin Chem. 2013; 59(4): 684-691.
12. 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(16): 3489-3496.
13. Flood VH, Gill JC, Christopherson PA, et al. Comparison of type I, type III and type VI collagen binding assays in diagnosis of von Willebrand disease. J Thromb Haemost. 2012; 10(7): 1425-1432.
14. Flood VH, Gill JC, Morateck PA, et al. Gain-of-function GPIb ELISA assay for VWF activity in the Zimmerman Program for the Molecular and Clinical Biology of VWD. Blood. 2011; 117(6): e67-e74.
15. Lillicrap D. von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. Blood. 2013; 122(23): 3735-3740.
16. 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(3): 526-534.
17. Othman M. Platelet-type von Willebrand disease: a rare, often misdiagnosed and underdiagnosed bleeding disorder. Semin Thromb Hemost. 2011; 37(5): 464-469.
18. Mazurier C. Something new about type Normandy von Willebrand disease (type 2N VWD)? Thromb Haemost. 2004; 92(1): 1-2.
19. Tuley EA, Gaucher C, Jorieux S, Worrall NK, Sadler JE, Mazurier C. Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A. Proc Natl Acad Sci USA. 1991; 88(14): 6377-6381.
20. Rodeghiero F, Kadir R, Tosetto A, James P. Relevance of quantitative assessment of bleeding in haemorrhagic disorders. Hemophilia. 2008; 14(SUPPL. 3): 68-75.
21. Rodeghiero F, Tosetto A, Castaman G. How to estimate bleeding risk in mild bleeding disorders. J Thromb Haemost. 2007; 5(SUPPL. 1): 157-166.
22. O'Brien SH. Bleeding scores: are they really useful? Hematology (Am Soc Hematol Educ Program). 2012; 2012(1): 152-156.
23. Tosetto A, Castaman G, Rodeghiero F. Assessing bleeding in von Willebrand disease with bleeding score. Blood Rev. 2007; 21(2): 89-97.
24. Rydz N, James PD. The evolution and value of bleeding assessment tools. J Thromb Haemost. 2012; 10(11): 2223-2229.
25. Rodeghiero F, Castaman G, Tosetto A, et al. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. J Thromb Haemost. 2005; 3(12): 2619-2626.
26. Biss TT, Blanchette VS, Clark DS, et al. Quantitation of bleeding symptoms in children with von Willebrand disease: use of a standardized pediatric bleeding questionnaire. J Thromb Haemost. 2010; 8(5): 950-956.
27. Marcus PD, Nire KG, Grooms L, Klima J, O'Brien SH. The power of a standardized bleeding score in diagnosing paediatric type 1 von Willebrand's disease and platelet function defects. Haemophilia. 2011; 17(2): 223-227.
28. Bidlingmaier C, Grote V, Budde U, Olivieri M, Kurnik K. Prospective evaluation of a pediatric bleeding questionnaire and the ISTH bleeding assessment tool in children and parents in routine clinical practice. J Thromb Haemost. 2012; 10(7): 1335-1341.
29. Tosetto A, Castaman G, Plug I, Rodeghiero F, Eikenboom J. Prospective evaluation of the clinical utility of quantitative bleeding severity assessment in patients referred for hemostatic evaluation. J Thromb Haemost. 2011; 9(6): 1143-1148.
30. Lowe GC, Lordkipanidzé M, Watson SP; UK GAPP study group. Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders. J Thromb Haemost. 2013; 11(9): 1663-1668.
31. Sanders YV, Giezenaar MA, Laros-van Gorkom BA, et al; WiN study group. von Willebrand disease and aging: an evolving phenotype. J Thromb Haemost. 2014; 12(7): 1066-1075.
32. 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 - single center comparison of four different assays. Thromb Haemost. 2000; 84(6): 1127-1128.
33. Castaman G, Hillarp A, Goodeve A. Laboratory aspects of von Willebrand disease: test repertoire and options for activity assays and genetic analysis. Haemophilia. 2014; 20(SUPPL. 4): 65-70.
34. Flood VH, Friedman KD, Gill JC, et al. Limitations of the ristocetin cofactor assay in measurement of von Willebrand factor function. J Thromb Haemost. 2009; 7(11): 1832-1839.
35. 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(1): 77-85.
36. 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(1): 107-113.
37. 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.
38. Tosetto A, Castaman G, Rodeghiero F. Bleeders, bleeding rates, and bleeding score. J Thromb Haemost. 2013; 11(SUPPL. 1): 142-150.
39. Castaman G, Federici AB, Tosetto A, et al. Different bleeding risk in type 2A and 2M von Willebrand disease: a 2-year prospective study in 107 patients. J Thromb Haemost. 2012; 10(4): 632-638.
40. Mazurier C, Dieval J, Jorieux S, Delobel J, Goudemand M. A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction. Blood. 1990; 75(1): 20-26.
41. Mazurier C, Goudemand J, Hilbert L, Caron C, Fressinaud E, Meyer D. Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. Best Pract Res Clin Haematol. 2001; 14(2): 337-347.
42. 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(4): 766-773.
43. Federici AB, Bucciarelli P, Castaman G, et al. The bleeding score predicts clinical outcomes and replacement therapy in adults with von Willebrand disease. Blood. 2014; 123(26): 4037-4044.
44. Mannucci PM Treatment of von Willebrand's disease. N Engl J Med. 2004; 351(7): 683-694.
45. Coppola A, Franchini M, Makris M, Santagostino E, Di Minno G, Mannucci PM. Thrombotic adverse events to coagulation factor concentrates for treatment of patients with haemophilia and von Willebrand disease: a systematic review of prospective studies. Haemophilia. 2012; 18(3): e173-e187.
46. Rodeghiero F, Tosetto A, Abshire T, et al.; ISTH/SSC joint VWF and Perinatal/Pediatric Hemostasis Subcommittees Working Group. 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(9): 2063-2065.
47. Rodeghiero F, Castaman G, Tosetto A. How I treat von Willebrand disease. Blood. 2009; 114(6): 1158-1165.
48. Castaman G, Goodeve A, Eikenboom J; European Group on von Willebrand Disease. Principles of care for the diagnosis and treatment of von Willebrand disease. Haematologica. 2013; 98(5): 667-674.
49. Castaman G, Lethagen S, Federici AB, et al. Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD. Blood. 2008; 111(7): 3531-3539.
50. Federici AB, Mazurier C, Berntorp E, et al. Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: results of a multicenter European study. Blood. 2004; 103(6): 2032-2038.
51. Mannucci PM, Canciani MT, Rota L, Donovan BS. Response of factor VIII/von Willebrand factor to DDAVP in healthy subjects and patients with haemophilia A and von Willebrand's disease. Br J Haematol. 1981; 47(2): 283-293.
52. Schulman S. The effectiveness of desmopressin in patients with disorders of primary haemostasis. In: Mariani G, Mannucci PM, Cattaneo M, eds. Desmopressin in Bleeding Disorders, Vol. 242. Springer, Heidelberg, Germany; 1993: 161-167.
53. Association of Hemophilia Clinic Directors of Canada. Hemophilia and von Willebrand's disease: 2. Management. CMAJ. 1995; 153(2): 147-157.
54. Siew DA, Mangel J, Laudenbach L, Schembri S, Minuk L. Desmopressin responsiveness at a capped dose of 15 mg in type 1 von Willebrand disease and mild hemophilia A. Blood Coagul Fibrinolysis. 2014; 25(8): 820-823.
55. Smith TJ, Gill JC, Ambruso DR, Hathaway WE. Hyponatremia and seizures in young children given DDAVP. Am J Hematol. 1989; 31(3): 199-202.
56. Goudemand J, Scharrer I, Berntorp E, et al. Pharmacokinetic studies on Wilfactin, a von Willebrand factor concentrate with a low factor VIII content treated with three virus-inactivation/removal methods. J Thromb Haemost. 2005; 3(10): 2219-2227.
57. 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(6): 1115-1124.
58. Mannucci PM, Tenconi PM, Castaman G, Rodeghiero F. Comparison of four virus-inactivated plasma concentrates for treatment of severe von Willebrand disease: a cross-over randomized trial. Blood. 1992; 79(12): 3130-3137.
59. Makris M. Gastrointestinal bleeding in von Willebrand disease. Thromb Res. 2006; 118(SUPPL. 1):S13-S17.
60. Franchini M, Mannucci PM. Gastrointestinal angiodysplasia and bleeding in von Willebrand disease. Thromb Haemost. 2014; 112(3): 427-431.
61. 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(12): 2495-2498.
62. Morris ES, Hampton KK, Nesbitt IM, Preston FE, Thomas EG, Makris M. The management of von Willebrand's disease-associated gastrointestinal angiodysplasia. Blood Coagul Fibrinolysis. 2001; 12(2): 143-148.
63. Iannuzzi MC, Hidaka N, Boehnke M, et al. Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). Am J Hum Genet. 1991; 48(4): 757-763.
64. Fressinaud E, Meyer D. International survey of patients with von Willebrand disease and angiodysplasia. Thromb Haemost. 1993; 70(3): 546.
65. Abshire TC, Federici AB, Alvárez MT, et al.; VWD PN. Prophylaxis in severe forms of von Willebrand's disease: results from the von Willebrand Disease Prophylaxis Network (VWD PN). Haemophilia. 2013; 19(1): 76-81.
66. Federici AB Highly purified VWF/FVIII concentrates in the treatment and prophylaxis of von Willebrand disease: the PRO. WILL Study. Haemophilia. 2007; 13(SUPPL. 5): 15-24.
67. Berntorp E, Petrini P. Long-term prophylaxis in von Willebrand disease. Blood Coagul Fibrinolysis. 2005; 16(SUPPL. 1):S23-S26.
68. Ramsahoye BH, Davies SV, Dasani H, Pearson JF. Obstetric management in von Willebrand's disease: a report of 24 pregnancies and a review of the literature. Haemophilia. 1995; 1(2): 140-144.
69. Castaman G, Tosetto A, Rodeghiero F. Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations. Haematologica. 2010; 95(6): 963-969.
70. Sánchez-Luceros A, Meschengieser SS, Turdó K, et al. Evaluation of the clinical safety of desmopressin during pregnancy in women with a low plasmatic von Willebrand factor level and bleeding history. Thromb Res. 2007; 120(3): 387-390.
71. Giles AR, Hoogendoorn H, Benford K. Type IIB von Willebrand's disease presenting as thrombocytopenia during pregnancy. Br J Haematol. 1987; 67(3): 349-353.
72. Lee CA Women and inherited bleeding disorders: menstrual issues. Semin Hematol. 1999; 36(3 suppl 4): 21-27.
73. Lee CA, Abdul-Kadir R. von Willebrand disease and women's health. Semin Hematol. 2005; 42(1): 42-48.
74. Kujovich JL von Willebrand's disease and menorrhagia: prevalence, diagnosis, and management. Am J Hematol. 2005; 79(3): 220-228.
75. Greer IA, Lowe GD, Walker JJ, Forbes CD. Haemorrhagic problems in obstetrics and gynaecology in patients with congenital coagulopathies. Br J Obstet Gynaecol. 1991; 98(9): 909-918.
76. Kingman CE, Kadir RA, Lee CA, Economides DL. The use of levonorgestrel-releasing intrauterine system for treatment of menorrhagia in women with inherited bleeding disorders. BJOG. 2004; 111(12): 1425-1428.