Why the study?
Type 2A and 2M von Willebrand disease broadly show similar phenotypic parameters but involve different pathophysiological mechanisms.
Population
Patients with type 2A and type 2M von Willebrand disease genotypically diagnosed at one large center
Comparison
Type 2A vs type 2M von Willebrand disease and disease-causing variant locations
Design
Single-center observational study
Authors
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Type 2A VWD may warrant closer bleeding surveillance than 2M; leaves open whether variant location should guide management.
Type 2A VWD presents with more severe bleeding phenotypes than type 2M, with specific disease-causing variant locations (VWF-A1 vs VWF-A2) driving distinct pathophysiological mechanisms and laboratory patterns.
Woods et al. (2021) studied this question.
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