A Rare Combination of von Willebrand Disease Type 2A and 2M: Diagnostic and Therapeutic Challenges – A case report

Background: Combined von Willebrand disease (VWD) type 2A/2M is a rare phenotype characterized by overlapping qualitative defects affecting both multimer structure and von Willebrand factor (VWF) function. Key Clinical Question: How can congenital VWD be distinguished from acquired von Willebrand syndrome (AVWS) when both conditions contribute to an abnormal laboratory phenotype? Clinical Approach: variant, p.Leu1446Pro, confirming congenital VWD type 2A/2M. Conclusion: This case demonstrates how AVWS may obscure an underlying congenital VWD phenotype. Combined phenotypic and molecular diagnostics are essential for accurate classification, therapeutic decision making, and interpretation of complex VWD phenotypes.