Article
Noncanonical type 2B von Willebrand disease associated with mutations in the VWF D'D3 and D4 domains.
Blood advances - 28 Jul 2020
Sacco Monica, Lancellotti Stefano, Ferrarese Mattia, Bernardi Francesco, Pinotti Mirko, Tardugno Maira, De Candia Erica, Di Gennaro Leonardo, Basso Maria, Giusti Betti, Papi Massimiliano, Perini Giordano, Castaman Giancarlo, De Cristofaro Raimondo
Abstract excerpt
We observed a 55-year-old Italian man who presented with mucosal and cutaneous bleeding. Results of his blood analysis showed low levels of von Willebrand factor (VWF) antigen and VWF activity (both VWF ristocetin cofactor and VWF collagen binding), mild thrombocytopenia, increased ristocetin-induced platelet aggregation, and a deficiency of high-molecular-weight multimers, all typical phenotypic hallmarks of...
Topics
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Platelet Aggregation
- von Willebrand Disease, Type 2
- von Willebrand Diseases
- von Willebrand Factor