Among patients with type 1 or type 2 von Willebrand disease (VWD), the response to desmopressin depends on the von Willebrand factor (VWF)gene variant, according to results published in Blood Advances.
VWFabnormality or impaired function is a hallmark characteristic of VWD. Normal VWF function is essential for platelet adhesion and aggregation; VWD is, consequently, linked with impaired clot formation and an increased risk of bleeding. Reduced VWFlevels are known as type 1 VWD; abnormal VWFfunction is known as type 2.
Desmopressin, a mainstay treatment of VWD, functions by releasing endogenous VWF from vascular endothelial cells. While this strategy is effective in a large proportion of patients, not all respond to treatment.
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Given that several VWF variants are associated with VWD — although nearly one-third of patients with type 1 disease do not have a VWF variant — establishing any link between mutational status and likelihood of response to desmopressin may help in treatment decision-making. For this study, researchers investigated any link between genotype and treatment response in a large cohort of patients with type 1 or type 2 VWD.
Patients were grouped into 1 of 3 cohorts: type 1 without a VWF mutation (72 patients), type 1 with a VWF mutation (108 patients), and type 2 (70 patients). In the type 1 no mutation, type 1 with mutation, and type 2 groups, the median ages at which desmopressin treatment was initiated were 37, 35, and 38 years, respectively, 66.7%, 61.1%, and 55.7% patients were female sex, and median bleeding scores were 9, 7, and 11.
All patients with type 1 disease without a variant had a complete response; this was true of 64.3% of patients with type 1 disease with a variant and 31.3% of patients with type 2 disease (P <.001). Where patients had the same variant, response was similar, despite interindividual differences in other characteristics.
“In type 1 and type 2 VWD patients with a VWF variant, desmopressin response highly depends on the VWF gene variants,” the authors wrote in their report.
Disclosure: Some [or one] study author(s) declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of authors’ disclosures.
Reference
Atiq F, Heijdra J, Snijders F, et al. Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease. Blood Adv. 2022;6(18):5317-5326. doi:10.1182/bloodadvances.2021006757
