Clinical laboratory diagnostics and monitoring of ADAMTS13 deficiency and of related diseases: an integrated approach

INTRODUCTION: ADAMTS13, a crucial enzyme in hemostasis, that specifically cleaves von Willebrand factor (VWF), plays a pivotal role in the pathogenesis and diagnosis of thrombotic thrombocytopenic purpura (TTP), a microcirculatory form of thrombotic microangiopathy (TMA). Its deficiency leads to the accumulation of ultra-large VWF multimers, causing microvascular thrombosis. Understanding and measuring ADAMTS13 activity are essential for diagnosis and management of TTP and other thrombotic diseases associated with ADAMTS13 deficiency. AREAS COVERED: This review explores the evolution of ADAMTS13 assays from labor-intensive methods to rapid, automated platforms. It examines congenital and acquired ADAMTS13 deficiencies, highlighting diagnostic strategies and therapeutic interventions. A comprehensive literature search was conducted between September 2025 and June 2026 using PubMed and GoogleScholar, focusing on recent advancements and extending to foundational studies when necessary. EXPERT OPINION: The integration of rapid ADAMTS13 testing has the potential to improve clinical decision-making by shortening diagnostic uncertainty and supporting earlier differentiation of TTP from other TMAs. Despite progress, challenges remain in assay standardization, sensitivity, and interpretation. Future developments may include point-of-care technologies and conformation-sensitive assays to enhance relapse prediction and monitoring. Collaboration between clinicians and laboratories is crucial to optimize patient outcomes and advance the field of ADAMTS13 diagnostics.