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Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination.

AbstractBACKGROUND:
Diagnosis of von Willebrand disease (VWD) type 2 usually relies on the discrepancy between the von Willebrand factor (VWF) ristocetin cofactor activity (VWF:RCo) and VWF antigen (VWF:Ag). Type 2B patients can be discriminated from other qualitative VWD variants by using ristocetin-induced platelet agglutination (RIPA) test. The major limitation of RIPA is the requirement of fresh blood sample.
OBJECTIVES:
In this study, we evaluated the VWF gain-of-function mutant GPIb binding (VWF:GPIbM) and VWF:RCo assays to investigate whether the VWF:GPIbM/VWF:RCo ratio was able to identify the type 2B variant among an heterogeneous VWD population, previously characterized following the ISTH-SSC guidelines.
PATIENTS/METHODS:
Seventy-six VWD patients and 31 healthy subjects were evaluated by using VWF:Ag, VWF:RCo, and VWF:GPIbM assays.
RESULTS:
The mean (minimum-maximum values) VWF:GPIbM/VWF:RCo ratio was higher in type 2B patients (2.53, 0.84-6.11) than in healthy controls (1.05, 0.87-1.34), type 1 (0.85, 0.51-1.15), 2A (1.20, 0.36-2.82), and 2M (1.07, 0.91-1.38) (P < 0.0001). Type 2B variants were divided into four groups (A, B, C, and D) according to their different multimeric patterns. The mean value of the VWF:GPIbM/VWF:RCo ratio in the four groups showed an increasing trend from group A (1.08) to D (3.69), proportional to the loss of high molecular weight multimers. Among 32 type 2B patients, previously diagnosed with RIPA, 8 (mainly with a type I New York/Malmö phenotype) were not confirmed using the VWF:GPIbM/VWF:RCo ratio.
CONCLUSIONS:
Whenever the RIPA test is not feasible, the VWF:GPIbM/VWF:RCo ratio might help to identify severe type 2B VWD patients.
AuthorsF Stufano, L Baronciani, M T Pagliari, F Franchi, G Cozzi, I Garcia-Oya, P Bucciarelli, M Boscarino, F Peyvandi
JournalJournal of thrombosis and haemostasis : JTH (J Thromb Haemost) Vol. 13 Issue 10 Pg. 1806-14 (Oct 2015) ISSN: 1538-7836 [Electronic] England
PMID26206100 (Publication Type: Comparative Study, Evaluation Study, Journal Article)
Copyright© 2015 International Society on Thrombosis and Haemostasis.
Chemical References
  • Biomarkers
  • Platelet Glycoprotein GPIb-IX Complex
  • adhesion receptor
  • von Willebrand Factor
  • Ristocetin
Topics
  • Biomarkers (blood)
  • Blood Platelets (metabolism)
  • Case-Control Studies
  • Diagnosis, Differential
  • Humans
  • Mutation
  • Platelet Aggregation
  • Platelet Function Tests
  • Platelet Glycoprotein GPIb-IX Complex (genetics, metabolism)
  • Predictive Value of Tests
  • Protein Multimerization
  • Ristocetin (administration & dosage)
  • Severity of Illness Index
  • von Willebrand Disease, Type 2 (blood, diagnosis, genetics)
  • von Willebrand Factor (metabolism)

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