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January 1, 1988BloodOpen Access

von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers

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Authors

PMPM MannucciFondazione IRCCS Ca' Granda Ospedale Maggiore PoliclinicoRLR LombardiIstituto Nazionale di Fisica NucleareGCGiancarlo CastamanAzienda Ospedaliero-Universitaria Careggi

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Overview

Familial study demonstrates supranormal plasma von Willebrand factor multimers in affected kindreds, identifying a novel bleeding disorder variant.

Key Points

  • To characterize the clinical presentation, multimeric structure, and biochemical features of an unusual inherited bleeding disorder designated as von Willebrand disease Vicenza.
  • Evaluated 15 individuals across two kindreds displaying an autosomal dominant inheritance of mild lifelong bleeding symptoms, comparing 10 symptomatic members against five asymptomatic relatives.
  • Assayed plasma and platelet factor VIII coagulant activity, von Willebrand factor antigen, and ristocetin cofactor activity, along with multimeric organization before and after desmopressin infusion.
  • Analyzed the proteolytic processing and subunit composition of von Willebrand factor in three affected patients.
  • All 10 symptomatic members demonstrated a supranormal plasma multimeric structure identical to post-desmopressin normal plasma, alongside markedly reduced plasma factor VIII coagulant activity, antigen levels, and ristocetin cofactor activity.
  • Platelet von Willebrand factor antigen, ristocetin cofactor activity, and platelet multimeric structure were normal in tested patients (n=3), with intact proteolytic subunit processing.
  • Desmopressin infusion caused a marked increase in plasma factor VIII coagulant activity, antigen, and ristocetin cofactor activity with normal clearance kinetics while maintaining the supranormal multimeric pattern.

Cite This Study

Mannucci et al. (1988) studied this question.

synapsesocial.com/papers/6a70d828febe604dd7099e29https://doi.org/10.1182/blood.v71.1.65.65
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Spectrum of von Willebrand's Disease: a Study of 100 Cases1977 · 105 citations
  2. 2Heterogeneity of type I von Willebrand disease: evidence for a subgroup with an abnormal von Willebrand factor1985 · 185 citations
  3. 3Subunit 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).1986 · 216 citations
  4. 4A new variant of type II von Willebrand disease with aberrant multimeric structure of plasma but not platelet von Willebrand factor (type IIF)1986 · 41 citations
  5. 5Proteolytic degradation of von Willebrand factor after DDAVP administration in normal individuals1987 · 54 citations