Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease

• Published in: Blood advances 2022-09, Vol.6 (18), p.5317-5326
• Main Authors: Atiq, Ferdows, Heijdra, Jessica, Snijders, Fleur, Boender, Johan, Kempers, Eva, van Heerde, Waander L., Maas, Dominique P.M.S.M., Krouwel, Sandy, Schoormans, Selene C., de Meris, Joke, Schols, Saskia E.M., van Galen, Karin P.M., van der Bom, Johanna G., Cnossen, Marjon H., Meijer, Karina, Fijnvandraat, Karin, Eikenboom, Jeroen, Leebeek, Frank W.G.
• Format: Article
• Language: English
• Subjects: Desmopressin; genetic analysis; treatment; Von Willebrand disease; VWF gene
• ISSN: 2473-9529; 2473-9537
• DOI: 10.1182/bloodadvances.2021006757

Patients with type 1 and type 2 von Willebrand disease (VWD) can be treated with desmopressin. Although a previous study has shown that the location of the causative VWF gene variant is associated with desmopressin response in type 1 VWD, the association between variants in the VWF gene and desmopressin response is not yet fully understood. Our primary aim was to compare desmopressin response in type 1 VWD patients with and without a VWF gene variant. Secondly, we investigated whether desmopressin response depends on specific VWF gene variants in type 1 and type 2 VWD. We included 250 patients from the WiN study; 72 type 1 without a VWF gene variant, 108 type 1 with a variant, 45 type 2A, 16 type 2M and 9 type 2N patients. VWF gene was analyzed with ion semiconductor sequencing and MLPA. Complete response to desmopressin was observed in all type 1 VWD patients without a variant, 64.3% of type 1 patients with a variant and 31.3% of type 2 patients (p