ReviewJournal of thrombosis and haemostasis : JTH2024
Application of genetic testing for the diagnosis of von Willebrand disease.
Review in Journal of thrombosis and haemostasis : JTH, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Concomitant acquired and inherited von Willebrand disease: A challenging bleeding disorder.Transfusion · 2026Article
- Allele-selective disruption of pathogenic VWF variants in type 2 von Willebrand disease using CRISPR/Cas9.Blood advances · 2026Article
- Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.Haematologica · 2026Article
- Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.Thrombosis and haemostasis · 2026Article
- Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.Scientific reports · 2026Article
- Molecular genetic testing in von Willebrand disease: past, present, and beyond.Haematologica · 2026Review
- How genetic advances are being translated into improved diagnostic outcomes for patients with inherited bleeding disorders.Blood vessels, thrombosis & hemostasis · 2025Review
- Von Willebrand disease diagnosis: from complexity to simplicity.Research and practice in thrombosis and haemostasis · 2025Article
- Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.Research and practice in thrombosis and haemostasis · 2025Article
- Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.Blood vessels, thrombosis & hemostasis · 2025Article
- Challenges and considerations of genetic testing in von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Review
- Global prevalence of platelet-type von Willebrand disease.Research and practice in thrombosis and haemostasis · 2025Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
von Willebrand disease (VWD) is the most frequent inherited bleeding disorder, with an estimated symptomatic prevalence of 1 per 1000 in the general population. VWD is characterized by defects in the quantity, quality, or multimeric structure of von Willebrand factor (VWF), a glycoprotein being hemostatically essential in circulation. VWD is classified into 3 principal types: low VWF/type 1 with partial quantitative deficiency of VWF, type 3 with virtual absence of VWF, and type 2 with functional abnormalities of VWF, being classified as 2A, 2B, 2M, and 2N. A new VWD type has been officially recognized by the ISTH SSC on von Willebrand factor which has also been discussed by the joint ASH/ISTH/NHF/WFH 2021 guidelines (ie, type 1C), indicating patients with quantitative deficiency due to an enhanced VWF clearance. With the advent of next-generation sequencing technologies, the process of genetic diagnosis has substantially changed and improved accuracy. Therefore, nowadays, patients with type 3 and severe type 1 VWD can benefit from genetic testing as much as type 2 VWD. Specifically, genetic testing can be used to confirm or differentiate a VWD diagnosis, as well as to provide genetic counseling. The focus of this manuscript is to discuss the current knowledge on VWD molecular pathophysiology and the application of genetic testing for VWD diagnosis.
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