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January 1, 1988Blood

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

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Key result

A novel variant of von Willebrand disease was identified in 10 symptomatic family members, characterized by a supranormal multimeric structure for plasma VWF.

Population

15 members of two kindreds

Design

Case_series

Authors

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

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Overview

May prompt multimer analysis in atypical bleeding cases; leaves open prevalence and management implications.

Key Points

  • To characterize the molecular and clinical features of an inherited bleeding disorder featuring unusually large von Willebrand factor multimers in plasma.
  • Evaluated 15 family members across two kindreds with an autosomal dominant history of mild bleeding, classifying 10 as symptomatic and 5 as asymptomatic.
  • Measured baseline bleeding time, factor VIII coagulant activity, von Willebrand factor antigen, and ristocetin cofactor activity, followed by reassessment after desmopressin infusion.
  • Analyzed multimeric structures and subunit compositions of von Willebrand factor in plasma and platelets before and after desmopressin treatment (N=3 for platelet sub-studies).
  • All 10 symptomatic individuals exhibited supranormal plasma von Willebrand factor multimers alongside markedly reduced baseline factor VIII coagulant activity, antigen levels, and ristocetin cofactor activity, whereas 5 asymptomatic relatives were unaffected.
  • Platelet von Willebrand factor multimeric structure, antigen levels, and subunit proteolytic processing were normal among tested patients (N=3).
  • Desmopressin infusion induced a pronounced increase in factor VIII coagulant activity, von Willebrand factor antigen, and ristocetin cofactor activity while maintaining persistent supranormal multimer patterns.

Study Design

Type

Observational (n=15)

Structured PICO

P
Population
15 members (10 symptomatic and 5 asymptomatic) of two kindreds with a variant of von Willebrand disease characterized by mild lifelong bleeding symptoms.
E
Exposure
Desmopressin (DDAVP) infusion
O
Outcome
Plasma von Willebrand factor (VWF) multimeric structure and coagulation parameters (VIII:C, VWF:Ag, RiCof)surrogate

This study describes the first variant of von Willebrand disease characterized by a supranormal multimeric structure.

Cite This Study

Mannucci et al. (1988) conducted an observational in von Willebrand disease (n=15). von Willebrand disease variant vs. Asymptomatic family members was evaluated on Plasma VWF multimeric structure. A novel variant of von Willebrand disease was identified in 10 symptomatic family members, characterized by a supranormal multimeric structure for plasma VWF.

synapsesocial.com/papers/6a96ab8137dc33ab6afbc0b4https://doi.org/10.1182/blood.v71.1.65.bloodjournal71165
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Also Consider

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

  1. 1von Willebrand disease "Vicenza" with larger-than-normal (supranormal) von Willebrand factor multimers1988 · 127 citations
  2. 2Type II H von willebrand disease: New structural abnormality of plasma and platelet von willebrand factor in a patient with prolonged bleeding time and borderline levels of ristocetin cofactor activity1989 · 17 citations
  3. 3Heterogeneity of type I von Willebrand disease: evidence for a subgroup with an abnormal von Willebrand factor1985 · 185 citations
  4. 4Heterogeneity of type I von Willebrand disease: evidence for a subgroup with an abnormal von Willebrand factor1985 · 10 citations
  5. 5A variant of type II von willebrand disease with an abnormal triplet structure and discordant effects of protease inhibitors on plasma and platelet von willebrand factor structure1987 · 32 citations