Beyond a century of discovery: the global and persistent burden of underdiagnosis in von Willebrand disease

TL;DR

Despite being a common inherited bleeding disorder, von Willebrand disease remains widely underdiagnosed globally due to diagnostic challenges and lack of awareness.

Contribution

The paper highlights the persistent underdiagnosis of von Willebrand disease and proposes strategies for improving detection and care.

Findings

Population-based studies suggest a prevalence of 0.8% to 1.6%, but registry data show only 25.6 per million cases are identified.

Women and girls are disproportionately affected, with heavy menstrual bleeding and postpartum hemorrhage being common issues.

Diagnostic delays in women can exceed 14 years, and low- and middle-income countries face significant disparities in diagnosis.

Abstract

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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