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W. Lester, A. Guilliatt, G. Surdhar, Said Enayat, J. Wilde, S. Willoughby, P. Grundy, A. Cumming, P. Collins, F. Hill (2006)
Inherited and de novo von Willebrand disease ‘Vicenza’ in UK families with the R1205H mutation: diagnostic pitfalls and new insightsBritish Journal of Haematology, 135
Ren-huai Huang, Ying Wang, Robyn Roth, Xiong Yu, A. Purvis, J. Heuser, E. Egelman, J. Sadler (2008)
Assembly of Weibel–Palade body-like tubules from N-terminal domains of von Willebrand factorProceedings of the National Academy of Sciences, 105
J. Michiels, Z. Berneman, A. Gadisseur, M. Planken, W. Schroyens, A. Velde, H. Vliet (2006)
Characterization of Recessive Severe Type 1 and 3 von Willebrand Disease (VWD), Asymptomatic Heterozygous Carriers Versus Bloodgroup O-Related von Willebrand Factor Deficiency, and Dominant Type 1 VWDClinical and Applied Thrombosis/Hemostasis, 12
A. Casonato, E. Pontara, F. Sartorello, M. Cattini, M. Sartori, R. Padrini, A. Girolami (2002)
Reduced von Willebrand factor survival in type Vicenza von Willebrand disease.Blood, 99 1
C. Millar, A. Riddel, A. Griffioe, P. Jenkin, S. Brown (2005)
The Y/C1584 mutation of von Willebrand factor in type 2M von Willebrand disease: frequency and clearance of von Willebrand factorBritish Journal of Haematology, 130
James Davies, Peter Collins, Lee Hathaway, D. Bowen (2007)
von Willebrand factor: evidence for variable clearance in vivo according to Y/C1584 phenotype and ABO blood groupJournal of Thrombosis and Haemostasis, 6
J. Eikenboom, Tadashi Matsushita, P. Reitsma, E. Tuley, G. Castaman, E. Briet, J., Evan Sadler (1996)
Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.Blood, 88 7
M. Cattaneo, A. Federici, A. Lecchi, Barbara Agati, R. Lombardi, Federica Stabile, P. Bucciarelli (1999)
Evaluation of the PFA-100® System in the Diagnosis and Therapeutic Monitoring of Patients with von Willebrand DiseaseThrombosis and Haemostasis, 82
P. Mannucci, Rossana Lombardi, G. Castaman, JA Dent, A. Lattuada, Francesco Rodeghiero, TS Zimmerman (1988)
von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers.Blood, 71 1
R. Schneppenheim, U. Budde (2005)
Phenotypic and genotypic diagnosis of von Willebrand disease: a 2004 update.Seminars in hematology, 42 1
S. Haberichter, M. Balistreri, P. Christopherson, P. Morateck, S. Gavazova, D. Bellissimo, M. Manco‐Johnson, J. Gill, R. Montgomery (2006)
Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.Blood, 108 10
J. Michiels, A. Velde, H. Vliet, M. Planken, W. Schroyens, Z. Berneman (2002)
Response of von Willebrand factor parameters to desmopressin in patients with type 1 and type 2 congenital von Willebrand disease: diagnostic and therapeutic implications.Seminars in thrombosis and hemostasis, 28 2
(1997)
Mutations in the D3 domain of von Willebrand factor are identified in patients classified as 1 or 2A von Willebrand disease
G. Castaman, J. Eikenboom, E. Missiaglia, F. Rodeghiero (2000)
Autosomal dominant type 1 von Willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effectBritish Journal of Haematology, 108
Reinhard Schneppenheim, Ulrich Budde, Z. Ruggeri (2001)
A molecular approach to the classification of von Willebrand disease.Best practice & research. Clinical haematology, 14 2
G. Castaman, K. Bertoncello, M. Bernardi, J. Eikenboom, U. Budde, F. Rodeghiero (2007)
Autosomal recessive von Willebrand disease associated with compound heterozygosity for a novel nonsense mutation (2908 del C) and the missense mutation C2362F: Definite evidence for the non‐penetrance of the C2362F mutationAmerican Journal of Hematology, 82
P. Tjernberg, H. Vos, C. Riel, B. Luken, J. Voorberg, R. Bertina, J. Eikenboom (2006)
Differential effects of the loss of intrachain- versus interchain-disulfide bonds in the cystine-knot domain of von Willebrand factor on the clinical phenotype of von Willebrand diseaseThrombosis and Haemostasis, 96
P. Casaña, F. Martínez, S. Haya, Carmen Espinós, J. Aznar (2001)
Association of the 3467C>T mutation (T1156M) in the von Willebrand's factor gene with dominant type 1 von Willebrand's diseaseAnnals of Hematology, 80
G. Ciavarella, N. Ciavarella, S. Antoncecchi, D. Mattia, P. Ranieri, J. Dent, T. Zimmerman, Z. Ruggeri (1985)
High-resolution analysis of von Willebrand factor multimeric composition defines a new variant of type I von Willebrand disease with aberrant structure but presence of all size multimers (type IC).Blood, 66 6
G. Castaman, E. Missiaglia, A. Federici, R. Schneppenheim, F. Rodeghiero (2000)
An Additional Unique Candidate Mutation (G2470A; M740I) in the Original Families with von Willebrand Disease Type 2 M Vicenza and the G3864A (R1205H) MutationThrombosis and Haemostasis, 84
Ulrich Budde, Reinhard Schneppenheim, J. Eikenboom, A. Goodeve, K. Will, E. Drewke, G. Castaman, Francesco Rodeghiero, A. Federici, J. Batlle, A. Pérez, Dominique Meyer, C. Mazurier, J. Goudemand, Jørgen Ingerslev, D. Habart, Zdena Vorlová, Lars Holmberg, Stefan Lethagen, J. Pasi, Frank Hill, I. Peake (2008)
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)Journal of Thrombosis and Haemostasis, 6
M. Sztukowska, L. Gallinaro, M. Cattini, E. Pontara, F. Sartorello, V. Daidone, R. Padrini, Antonio Pagnan, A. Casonato (2008)
Von Willebrand factor propeptide makes it easy to identify the shorter Von Willebrand factor survival in patients with type 1 and type Vicenza von Willebrand diseaseBritish Journal of Haematology, 143
J. Michiels, Z. Berneman, A. Gadisseur, M. Planken, W. Schroyens, A. Velde, H. Vliet (2006)
Classification and Characterization of Hereditary Types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (Unclassifiable) von Willebrand DiseaseClinical and Applied Thrombosis/Hemostasis, 12
C. Hermans, J. Batlle (2009)
Autosomal Dominant von Willebrand Disease Type 2MActa Haematologica, 121
S. Lethagen, C. Isaksson, C. Schaedel, L. Holmberg (2002)
Von Willebrand’s Disease caused by Compound Heterozygosity for a Substitution Mutation (T1156M) in the D3 Domain of the Von Willebrand Factor and a Stop Mutation (Q2470X)Thrombosis and Haemostasis, 88
A. Goodeve, J. Eikenboom, G. Castaman, F. Rodeghiero, A. Federici, J. Batlle, D. Meyer, C. Mazurier, J. Goudemand, R. Schneppenheim, U. Budde, J. Ingerslev, D. Habart, Z. Vorlová, L. Holmberg, S. Lethagen, J. Pasi, F. Hill, M. Soteh, L. Baronciani, C. Halldén, A. Guilliatt, W. Lester, I. Peake (2007)
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, 109 1
Anne Riddell, Simon Brown, R. Starke, I. Mackie, D. Bowen, P. Jenkins, J. Mourik, Carolyn Millar (2008)
Survival of von Willebrand factor released following DDAVP in a type 1 von Willebrand disease cohort: Influence of glycosylation, proteolysis and gene mutationsThrombosis and Haemostasis, 99
T. Wit, J. Mourik (2001)
Biosynthesis, processing and secretion of von Willebrand factor: biological implications.Best practice & research. Clinical haematology, 14 2
P. James, L. O'Brien, C. Hegadorn, C. Notley, G. Sinclair, C. Hough, M. Poon, D. Lillicrap (2004)
A novel type 2A von Willebrand factor mutation located at the last nucleotide of exon 26 (3538G>A) causes skipping of 2 nonadjacent exons.Blood, 104 9
P. Baillod, C. Gaucher, B. Affolter, C. Mazurier, R. Pflugshaupt (1995)
New variant of type II von willebrand's disease with structural abnormality of plasma von willebrand factor in a patient with very mild bleeding historyAmerican Journal of Hematology, 49
P. Tjernberg, H. Vos, G. Castaman, R. Bertina, J. Eikenboom (2004)
Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residuesJournal of Thrombosis and Haemostasis, 2
R. Schneppenheim, A. Federici, U. Budde, G. Castaman, E. Drewke, S. Krey, P. Mannucci, Gabi Riesen, F. Rodeghiero, B. Zieger, R. Zimmermann (2000)
Von Willebrand Disease Type 2M “Vicenza” in Italian and German Patients: Identification of the First Candidate Mutation (G3864A; R1205H) in 8 FamiliesThrombosis and Haemostasis, 83
T. Zimmerman, J. Dent, Z. Ruggeri, L. Nannini (1986)
Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE).The Journal of clinical investigation, 77 3
G. Castaman, S. Lethagen, A. Federici, A. Tosetto, A. Goodeve, U. Budde, J. Batlle, D. Meyer, C. Mazurier, É. Fressinaud, J. Goudemand, J. Eikenboom, R. Schneppenheim, J. Ingerslev, Z. Vorlová, D. Habart, L. Holmberg, J. Pasi, F. Hill, I. Peake, F. Rodeghiero (2008)
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, 111 7
Autosomal dominant von Willebrand disease (VWD) type 1/2E is a quantitative/qualitative defect in the von Willebrand factor (VWF) caused by heterozygous cysteine and non-cysteine mutations in the D3 domain of the VWF gene and results in a secretion-multimerization-clearance defect in mutant VWF with the loss of large VWF multimers not due to proteolysis. The multimers of patients with dominant VWD type 1/2E due to mutations in the D3 domain show an aberrant triplet structure with lack of outer bands but with pronounced inner bands of the triplet structure combined with a relative decrease in large multimers reflecting heterozygosity for multimerization defects. There is a good response to desmopressin (DDAVP) followed by rapid clearance of VWF:antigen (Ag), factor VIII coagulant activity (FVIII:C) and VWF:ristocetin cofactor activity (RCo) as the main cause of VWD type 1 or 2 with typical 2E multimeric pattern (VWD type 1/2E). Cysteine mutations in the D3 domains (C1130, C1149 and C1190) show pronounced features of VWD 1/2E with the relative loss of large and relative increase in small VWF multimers with abnormal triplet structure in heterozygotes. Such abnormalities are less pronounced in patients with a milder form of VWD type 1 due to non-cysteine mutations W1144G, T1156M and W1120S in the D3 domain. VWD type 1 Vicenza is caused by the R1205H mutation in the D3 domain and characterized by equally low levels of FVIII:C, VWF:Ag and VWF:RCo. The response to DDAVP in VWD Vicenza is good for FVIII:C, VWF:Ag and VWF:RCo, which is followed by a rapid clearance in less than a few hours of FVIII:C and VWF parameters. The ratios for FVIII:C/VWF:Ag, VWF:RCo/Ag and VWF:CB/Ag remain normal before and after DDAVP indicating that VWD Vicenza clearly differs from VWD type 1, 1/2E and 2M. A new set of missense mutations in D4, B1–B3 and C1–C2 domains has been discovered as the cause of a mild VWD type 1 secretion defect with normal VWF multimers or smeary VWF multimeric pattern. Cysteine mutations in exons 38, 40, 42 and 43 (D4, B1–B3 and C1 domain), show smeary patterns (either smf or sm), with the presence of large VWF multimers and a laboratory phenotype of mild VWD type 1 with variable penetrance of bleeding manifestations. Recent studies showed that the ratio of VWF propeptide (pp) to VWF:Ag can be used to predict a shorter than normal half-life for VWF:Ag. There is a strong inverse correlation between rapid clearance of VWF:Ag after DDAVP and increased VWFpp/Ag ratios >10 in VWD type 1 Vicenza, and >2 in VWD type 1/2E but normal or slightly increased (1–<2) VWFpp/Ag ratios in mild-type VWD due to nonsense or missense mutations in the D1, D2, D4, B and C domains.
Acta Haematologica – Karger
Published: Jun 1, 2009
Keywords: Genotypes; Phenotypes; Propeptides; Type 1 Vicenza; von Willebrand disease
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