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No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation
Veronica H Flood1, Kenneth D Friedman, Joan Cox Gill
1Department of Pediatrics, Division of Hematology/Oncology, Medical College of Wisconsin, Milwaukee, WI, USA. vflood@mcw.edu
Blood
|March 23, 2013
Summary
The D1472H variant in von Willebrand factor (VWF) affects lab tests for von Willebrand disease (VWD). However, this genetic variation does not appear to increase bleeding symptoms in patients with type 1 VWD.
Area of Science:
- Hematology
- Genetics
- Clinical Diagnostics
Background:
- Diagnosis of von Willebrand disease (VWD) is challenging due to limitations in current laboratory assays.
- The ristocetin cofactor activity assay (VWF:RCo) is particularly problematic.
- A previously identified VWF A1 domain sequence variation, p.D1472H, affects the VWF:RCo/VWF antigen (VWF:Ag) ratio.
Purpose of the Study:
- To investigate the impact of the p.D1472H sequence variation on VWF:RCo/VWF:Ag ratio and bleeding symptoms in type 1 VWD patients.
- To expand on previous findings in healthy controls.
Main Methods:
- Analysis of VWF:RCo and VWF:Ag levels in type 1 VWD subjects with and without the D1472H variation.
- Comparison of bleeding scores between these groups.
Main Results:
- Type 1 VWD subjects with D1472H showed a significantly decreased VWF:RCo/VWF:Ag ratio compared to those without the variant.
- This ratio decrease was consistent with findings in healthy individuals.
- No significant increase in bleeding score was observed in type 1 VWD subjects carrying the D1472H variation.
Conclusions:
- The D1472H sequence variation is associated with altered VWF laboratory parameters but not increased bleeding in type 1 VWD.
- This suggests D1472H may be a benign variant concerning bleeding risk, despite its effect on VWF assays.
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