Updated Diagnosis of von Willebrand Disease: Global Access, Genomic Insights and Quality Assurance.

BACKGROUND AND

OBJECTIVES

One hundred years after its first description, major advances in laboratory science and genetics have transformed the diagnosis and clinical characterization of von Willebrand disease (VWD). This review provides an updated overview of diagnostic approaches to VWD, with emphasis on countries with limited resources, the growing role of next-generation sequencing (NGS), and insights gained from external quality assessment (EQA) programs.

KEY THEMES AND DISCUSSION: First, we discuss recent developments in diagnostic testing for VWD, including the use of standardised automated assays and structured bleeding assessment tools that enhance diagnostic accuracy and reproducibility. We also propose simplified diagnostic algorithms suited to resource-limited settings, where access to specialised assays remains restricted. Second, we examine the impact of NGS on VWD diagnostics, which enables comprehensive sequencing of the large and complex VWF gene, supports subtype classification, and distinguishes VWD from phenotypically similar disorders such as platelet-type VWD and mild haemophilia A. The ongoing challenges of variant interpretation and incomplete genotype-phenotype correlation are also addressed. Finally, we summarise evidence from international EQA programs showing improved assay precision and diagnostic concordance but highlighting residual variability in laboratory interpretation and testing availability. Together, these developments illustrate a century of progress in the understanding and diagnosis of VWD, underscoring the importance of global harmonization, quality assurance and equitable access to advanced diagnostic tools.