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Rapid discrimination of the phenotypic variants of von Willebrand disease. Blood 2016 May 19;127(20):2472-80

Date

02/27/2016

Pubmed ID

26917779

Pubmed Central ID

PMC4874227

DOI

10.1182/blood-2015-11-664680

Scopus ID

2-s2.0-84974623429 (requires institutional sign-in at Scopus site)   21 Citations

Abstract

Approximately 20% to 25% of patients with von Willebrand disease (VWD) have a qualitative defect of the von Willebrand factor (VWF) protein activities. Variant VWD typically is classified as type 1C, 2A, 2B, 2M, or 2N depending on the VWF activity defect. Traditionally, diagnosis has relied on multiple clinical laboratory assays to assign VWD phenotype. We developed an enzyme-linked immunosorbent assay (ELISA) to measure the various activities of VWF on a single plate and evaluated 160 patient samples enrolled in the Zimmerman Program for the Molecular and Clinical Biology of von Willebrand Disease with type 2 VWD. Using linear discriminate analysis (LDA), this assay was able to identify type 1C, 2A, 2B, 2M, or 2N VWD with an overall accuracy of 92.5% in the patient study cohort. LDA jackknife analysis, a statistical resampling technique, identified variant VWD with an overall accuracy of 88.1%, which predicts the assay's performance in the general population. In addition, this assay demonstrated correlation with traditional clinical laboratory VWF assays. The VWF multiplex activity assay may be useful as a same-day screening assay when considering the diagnosis of variant VWD in an individual patient.

Author List

Roberts JC, Morateck PA, Christopherson PA, Yan K, Hoffmann RG, Gill JC, Montgomery RR, Zimmerman Program Investigators

Author

Ke Yan PhD Associate Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Data Accuracy
Discriminant Analysis
Enzyme-Linked Immunosorbent Assay
Genetic Testing
Genotype
Hemophilia A
Humans
Phenotype
Probability
ROC Curve
Reproducibility of Results
Sensitivity and Specificity
Time Factors
von Willebrand Diseases
von Willebrand Factor