Type 2N von Willebrand disease: genotype drives different bleeding phenotypes and treatment needs.

doi:10.1016/j.jtha.2024.06.020

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Article

Type 2N von Willebrand disease: genotype drives different bleeding phenotypes and treatment needs.

Journal of thrombosis and haemostasis : JTH - 1 Oct 2024

Daniel Mélanie Y, Ternisien Catherine, Castet Sabine, Falaise Céline, D'Oiron Roseline, Volot Fabienne, Itzhar Nathalie, Pan-Petesch Brigitte, Jeanpierre Emmanuelle, Paris Camille, Zawadzki Christophe, Desvages Maximilien, Dupont Annabelle, Veyradier Agnès, Repessé Yohann, Babuty Antoine, Trossaërt Marc, Boisseau Pierre, Denis Cécile V, Lenting Peter J, Goudemand Jenny, Rauch Antoine, Susen Sophie

Abstract excerpt

BACKGROUND: Type 2 Normandy von Willebrand disease (VWD2N) is usually perceived as a mild bleeding disorder that can be treated with desmopressin (DDAVP). However, VWD2N patients can be compound heterozygous or homozygous for different variants, with p.Arg854Gln (R854Q) being the most frequent causative one. There are limited data about the impact of 2N variants on VWD2N phenotype and DDAVP response. OBJECTIVES:...

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PMID: 38992343
DOI: 10.1016/j.jtha.2024.06.020

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