2006
DOI: 10.1177/1076029606293422
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Classification and Characterization of Hereditary Types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (Unclassifiable) von Willebrand Disease

Abstract: All variants of type 2 von Willebrand disease (VWD) patients, except 2N, show a defective von Willebrand factor (VWF) protein (on cross immunoelectrophoresis or multimeric analysis), decreased ratios for VWF:RCo/Ag and VWF:CB/Ag and prolonged bleeding time. The bleeding time is normal and FVIII:C levels are clearly lower than VWF:Ag in type 2N VWD. High resolution multimeric analysis of VWF in plasma demonstrates that proteolysis of VWF is increased in type 2A and 2B VWD with increased triplet structure of eac… Show more

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Cited by 52 publications
(120 citation statements)
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“…This shear-induced cleavage reduces VWF size and adhesive activity in a pattern similar to patients with type 2A VWD. 31,79,107,108,116 However, this tentative mechanism has not been experimentally validated, and significant gaps remain. First, there is no direct evidence that VWF multimers are excessively cleaved by ADAMTS-13 in patients on LVAD support.…”
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confidence: 99%
“…This shear-induced cleavage reduces VWF size and adhesive activity in a pattern similar to patients with type 2A VWD. 31,79,107,108,116 However, this tentative mechanism has not been experimentally validated, and significant gaps remain. First, there is no direct evidence that VWF multimers are excessively cleaved by ADAMTS-13 in patients on LVAD support.…”
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confidence: 99%
“…An important example of a limitation of the current classification system is the R1374C mutation [5,6]. The phenotype associated with this mutation shows several characteristics that we have confirmed in 23 members of three unrelated families.…”
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confidence: 58%
“…In light of the most recently published physiopathological hypotheses that may provide an explanation for the differing incidence between products, we suggested to the authors to repeat their analyses without inclusion of the patient follow-up after the first switch [5]. In their response, van der Bom et al [6] tested this alternative analytical option, but unfortunately only for its impact on the search for an effect of von Willebrand factor on the immunogenicity of FVIII. Their response shows that to not include follow-up of patients after the first switch increases by 0.3 the risk estimation of rFVIII vs, pdFVIII with high VWF content (the crude RR increased from 1.0 to 1.3 and the adjusted RR from 1.2 to 1.5).…”
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confidence: 99%
“…The D-domains of MUC2 share very high homology with the blood clotting glycoprotein von Willebrand Factor (vWF) which also forms homo-oligomers. Autosomal dominant and recessive mutations in all four Ddomains of vWF cause von Willebrand disease [69], typically via altered homo-oligomerisation, and are therefore analogous to the Win and Eey Muc2 mutations. A single genomewide scan has identified an IBD susceptibility locus at Chromosome 11p, which contains MUC2 within a cluster of four mucin genes at 11p15.5 [70].…”
Section: Discussionmentioning
confidence: 99%