January 1, 2000Thrombosis and Haemostasis

Identification of Type 2 von Willebrand Disease in Previously Diagnosed Type 1 Patients: a Reappraisal Using Phenotypes, Genotypes and Molecular Modelling

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Population

30 patients previously diagnosed with quantitative type 1 von Willebrand disease who exhibited discrepant…

Design

Cross-sectional

Authors

INIoana Nitu-WhalleyEast Suffolk and North Essex NHS Foundation Trust ARAnne RiddellDepartment of Health and Social Care JPJohn PasiQueen Mary University of London

Discussion

Member takes

Implication

Supports reappraisal of type 1 VWD with discrepant ratios via sensitive assays; hypothesis-generating for revised classification pending validation.

Structured PICO

Population

30 patients previously diagnosed with quantitative type 1 von Willebrand disease (VWD) who exhibited discrepant VWF activity/VWF:Ag ratios of less than 0.7

Intervention

Reanalysis of phenotypes and genotypes using ristocetin co-factor activity (VWF:RiCo) assay, ELISA assays, multimeric analysis, and sequencing of exon 28 of the VWF gene

Outcome

Identification of qualitative type 2 defects in von Willebrand factor (VWF)surrogate

Reappraisal of type 1 VWD patients with discrepant VWF activity/antigen ratios using sensitive phenotypic and genotypic assays frequently reveals underlying type 2 qualitative defects.

Cite This Study

Nitu-Whalley et al. (2000) studied this question.

synapsesocial.com/papers/6a959c440cf8d0f2c97d05f4 https://doi.org/10.1055/s-0037-1614162

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Implication

Supports reappraisal of type 1 VWD with discrepant ratios via sensitive assays; hypothesis-generating for revised classification pending validation.

Identification of Type 2 von Willebrand Disease in Previously Diagnosed Type 1 Patients: a Reappraisal Using Phenotypes, Genotypes and Molecular Modelling

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Identification of Type 2 von Willebrand Disease in Previously Diagnosed Type 1 Patients: a Reappraisal Using Phenotypes, Genotypes and Molecular Modelling

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider