ArticleBlood advances2022
Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.
Article in Blood advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- DDAVP response and its determinants in bleeding disorders: a systematic review and meta-analysis.Blood · 2025Pooled it
- HMB-002: a monovalent antibody that elevates circulating VWF and FVIII levels for treatment of von Willebrand disease.Blood advances · 2026Article
- Clinical and laboratory diagnosis of von Willebrand disease.Haematologica · 2026Review
- Article
- Global estimation of the bleeding episodes treatable with desmopressin in von Willebrand disease and hemophilia A.Haematologica · 2025Review
- Article
- A Review of Desmopressin Use in Bleeding Disorders: An Unsung Hero?Biomolecules · 2025Review
- Plasma proteomics in patients with von Willebrand disease and hemophilia A highlights von Willebrand factor as main determinant of response to desmopressin treatment.Research and practice in thrombosis and haemostasis · 2025Article
- Clinical utility of panel-based genetic sequencing for von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Article
- The future of siRNA-mediated approaches to treat von Willebrand disease.Expert review of hematology · 2025Review
- R1205H (Vicenza) causes conformational changes in the von Willebrand factor D'D3 domains and enhances von Willebrand factor binding to clearance receptors LRP1 and SR-AI.Journal of thrombosis and haemostasis : JTH · 2024Article
- Potential clinical applications of current and future oral forms of desmopressin (Review).Experimental and therapeutic medicine · 2024Review
- Type 1 VWD classification revisited: novel insights from combined analysis of the LoVIC and WiN studies.Blood · 2024Article
- Desmopressin testing in von Willebrand disease: Lowering the burden.Research and practice in thrombosis and haemostasis · 2022Article
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Authors and funding
18 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 Willebrand in the Netherlands 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 Multiplex Ligation-dependent Probe Amplification. 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 < .001). Despite a large interindividual variability in desmopressin response, patients with the same variant had comparable desmopressin responses. For instance, in 6 type 1 patients with exon 4 to 5 deletion, mean VWF activity at 1 hour after desmopressin was 0.81 IU/mL, with a coefficient of variation of 22.9%. In conclusion, all type 1 VWD patients without a VWF gene variant respond to desmopressin. In type 1 and type 2 VWD patients with a VWF variant, desmopressin response highly depends on the VWF gene variants.
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