Beyond a century of discovery: the global and persistent burden of underdiagnosis in von Willebrand disease
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Le résumé fourni par la source
In February 2026, von Willebrand disease (VWD) will mark a century since its first description by Dr Erik Adolf von Willebrand. VWD is the most common inherited bleeding disorder and characterized predominantly by mucocutaneous bleeding. Despite remarkable advances in understanding its biology, diagnostic assays, genetics, and treatment, VWD remains widely underdiagnosed and misdiagnosed. Population-based studies estimate a prevalence between 0.8% and 1.6%, with 1 in 1000 individuals carry clinically significant VWD phenotypes, but global registry-reported prevalence averages only 25.6 per million, highlighting a striking gap between expected and identified cases. Underdiagnosis is driven by low awareness among health care providers, clinical and laboratory heterogeneity, assay variability, limited access to specialized testing, and misclassification as other bleeding disorders. Although VWD affects both sexes equally, women and girls are disproportionately impacted, with up to 90% experiencing heavy menstrual bleeding, 30% to 50% facing postpartum hemorrhage, and many missing school or workdays due to bleeding. Median diagnostic delay in women can exceed 14 years, often with multiple severe bleeding episodes prior to recognition. Disparities are particularly pronounced in low- and middle-income countries, where only severe cases are typically identified. Addressing these gaps requires global harmonization of diagnostic standards, increased awareness among health care providers, broader use of bleeding assessment tools, expanded laboratory capacity, and integration of sex-specific and precision medicine approaches. Coordinated policy, education, and awareness initiatives are essential to ensure early detection, equitable care, and optimal outcomes. The goal for the second century of VWD is that all patients are accurately diagnosed and appropriately treated.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Beyond a century of discovery: the global and persistent burden of underdiagnosis in von Willebrand disease
- Date Crossref
- 01/01/2026
- Éditeur
- Elsevier BV
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico pays non établi dans la noticeÉtablissement de santé
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The Royal Free Hospital pays non établi dans la noticeÉtablissement de santé
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London Women's Clinic pays non établi dans la noticeÉtablissement de santé
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Thrombosis Research Institute pays non établi dans la noticeOrganisation à but non lucratif
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University College London Institute for Women's Health pays non établi dans la noticeUniversité ou école supérieure
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University of Milan pays non établi dans la noticeUniversité ou école supérieure
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Royal Free Hospital NHS Trust Department of Obstetrics and Gynaecology pays non établi dans la noticeÉtablissement de santé
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Katharine Dormandy Haemophilia and Thrombosis Centre pays non établi dans la noticeInstitution
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Università degli Studi di Milano pays non établi dans la noticeInstitution
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, The Royal Free Hospital et London Women's Clinic, avec 6 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.