Burak KARAKAYA, Hamit KÜÇÜK
Rheumatology Quarterly - 2026;4(2):71-78
VEXAS syndrome is a recently identified adult-onset autoinflammatory disorder resulting from somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene, characterized by concurrent systemic inflammation and hematologic abnormalities. Since its initial description in 2020, VEXAS syndrome has become recognized as a prototype hemato-inflammatory condition at the intersection of rheumatology and hematology. The clinical presentation is diverse, including refractory inflammation, neutrophilic dermatoses, chondritis, vasculitis, pulmonary involvement, and progressive cytopenias, frequently mimicking established rheumatologic and hematologic diseases. Diagnosis requires a high degree of clinical suspicion and confirmation of somatic UBA1 mutations through appropriate molecular techniques. Management remains challenging; glucocorticoids provide temporary symptom control, while targeted therapies, hypomethylating agents, and hematopoietic stem cell transplantation are emerging as disease-modifying options for selected patients. This narrative review summarizes an overview of current understanding regarding the pathogenesis, clinical features, diagnostic strategies, and management strategies for VEXAS syndrome, aiming to improve awareness and facilitate timely diagnosis and optimal patient care.
