Reduced von Willebrand factor survival in type Vicenza von Willebrand disease.

@article{Casonato2002ReducedVW,
  title={Reduced von Willebrand factor survival in type Vicenza von Willebrand disease.},
  author={Alessandra Casonato and Elena Pontara and Francesca Sartorello and Maria Grazia Cattini and Maria T Sartori and Roberto Padrini and Antonio Girolami},
  journal={Blood},
  year={2002},
  volume={99 1},
  pages={
          180-4
        }
}
Type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. Two candidate mutations, G2470A and G3864A at exons 17 and 27, respectively, of the VWF gene were recently reported to be present in this disorder. Four additional families, originating from northeast Italy, with both mutations of type Vicenza VWD are now described. Like the original type Vicenza subjects, they showed a mild bleeding tendency and… 
View on PubMed
bloodjournal.org
160 Citations
Highly Influential Citations
7
Background Citations
26
Methods Citations
7
Results Citations
2

160 Citations

Citation Type

Citation Type

Identifying type Vicenza von Willebrand disease.
Von Willebrand disease type Vicenza: In search of a classification for the archetype of reduced von Willebrand factor survival
TLDR
The mathematical model by Galvanin et al. was used to explore the kinetic changes in VWF after DDAVP and showed that the release, but especially the proteolysis, of type Vicenza VWF were significantly higher than normal.
VonWillebrand disease type Vicenza: In search of a classification for the archetype of reduced vonWillebrand factor survival
TLDR
As a shorter survival of VWF is wholly responsible for the type Vicenza VWD phenotype, it might be better to classify it as a type 2 VWD (rather than type 1) to emphasise the greater interaction with clearance receptors as a new VWF functional defect.
Reduced von Willebrand factor survival in von Willebrand disease: pathophysiologic and clinical relevance
TLDR
This work has shown that normal subjects with O blood group show reduced survival after desmopressin, underlining the role of different VWF glycosylation present in ABO blood group.
von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease.
TLDR
VWFpp identified severe type 1 VWD with very low VWF levels in patients who had previously been classified as type 3 VWD, underlines the clinical significance of the VWFpp assay in the diagnosis and classification of VWD.
von Willebrand factor propeptide: biology and clinical utility.
TLDR
The assay of plasma VWFpp has clinical utility in assessing acute and chronic vascular perturbation associated with diseases such as thrombotic throm bocytopenic purpura, sepsis, and diabetes among others and has clear utility in the diagnosis of VWD subtypes.
How I treat low von Willebrand factor levels.
TLDR
The approach to establishing a diagnosis in low VWF patients is detailed and strategies for the management of these patients in the context of elective surgery and pregnancy are discussed.
Interactions of von Willebrand factor and ADAMTS13 in von Willebrand disease and thrombotic thrombocytopenic purpura.
TLDR
VWF multimer analysis is not a valid tool to diagnose TTP in the active phase of disease but may be helpful for the diagnosis of TTP patients in remission.
Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease
TLDR
The findings show that measuring platelet VWF helps to characterize VWD, especially the ambiguous phenotypes, shedding light on the mechanisms underlying the disorder.
New development in von Willebrand disease
  • G. Castaman
  • Medicine, Biology
    Current opinion in hematology
  • 2013
TLDR
Novel evidences provide accurate insights on the mechanisms of the disease and the bleeding risk associated with VWF deficiency or abnormality, the most frequent inherited bleeding disorder that has been the subject of extensive pathophysiological and clinical studies.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 32 REFERENCES
New families with von Willebrand disease type 2M (Vicenza).
von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers.
TLDR
After desmopressin infusion the plasma VWF multimeric structure remained supranormal as for preinfusion plasma, with VIII:C VWF:Ag and RiCof increasing markedly over baseline values and disappearing at a normal rate.
The genetic defect of type I von Willebrand disease "Vicenza" is linked to the von Willebrand factor gene.
TLDR
The results of this study strongly suggests that type I vWD Vicenza is due to a mutation in one of the vWF alleles, which results in an abnormal vWF molecule that is processed to a lesser extent than normal vWF.
The heterogeneity of type IIA von Willebrand's disease: studies with protease inhibitors
TLDR
Type IIA vWD is a heterogeneous disorder in which absence of largest and intermediate multimers is an in vivo phenomenon, and the results indicate that absence of large multimers resulted from in vitro proteolysis.
In vitro correction of the abnormal multimeric structure of von Willebrand factor in type IIa von Willebrand's disease.
TLDR
Patients with type IIa von Willebrand's disease synthesize an abnormal vWf protein that is susceptible to in vitro proteolytic degradation and that proteolytics degradation can play a significant role in the phenotypic expression of vWd by modifying the plasma and platelet vWF multimeric structure.
von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.
TLDR
It is shown that botrocetin and ristocetin cofactor activities of vWF can be dissociated by a point mutation and confirm that these mediators promote vWF binding to platelets by different mechanisms.
Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease.
TLDR
Findings suggest that ristocetin-mediated interactions between platelets and FVIII/vWF do not accurately reflect the "bleeding-time" (von Willebrand factor) defect in this newly described subtype of vonWillebrand's disease.
A new variant of von Willebrand's disease (type I Padua): doublet-organized plasma von Willebrand factor oligomers in the presence of all size multimers.
TLDR
The reduced post-DDAVP half-life, and the abnormal subunit fragments of vWf, suggest a molecule characterized by an increased susceptibility to proteolytic degradation.
Multimeric composition of factor VIII/von Willebrand factor following administration of DDAVP: implications for pathophysiology and therapy of von Willebrand's disease subtypes.
TLDR
It is suggested that complete hemostatic correction following DDAVP can be routinely expected only in type I von Willebrand's disease, and only if factor VIII/vonWillebrand factor can be raised to normal levels.
Multimeric composition of factor VIII/von Willebrand factor following administration of DDAVP: implications for pathophysiology and therapy of von Willebrand's disease subtypes
TLDR
It is suggested that complete hemostatic correction following DDAVP can be routinely expected only in type I von Willebrand's disease, and only if factor VIII/vonWillebrand factor can be raised to normal levels.
...
1
2
3
4
...