VEXAS syndrome and its vexing presentations: Is VEXAS still under-recognized in India?

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare and recently identified auto-inflammatory disorder that has emerged as a paradigm-shifting diagnosis that bridges the gap between unexplained inflammation and clonal hematologic disorders. Driven by a somatic mutation in the UBA1 gene, it presents with a perplexing mix of recurrent fevers, vasculitis, cytopenias, and steroid-refractory inflammation, often masquerading as classic autoimmune disease. While increasingly recognized in the West, VEXAS remains underdiagnosed in India, where such cases are frequently misattributed to infections like tuberculosis or seronegative vasculitis. With the advent of affordable genomic testing, there is a pressing need for heightened awareness among Indian clinicians. It demands a shift in diagnostic thinking, from serology to sequencing, and from pattern recognition to precision medicine. This article sheds light on its vexing presentations since its inception in 2020 to its long-term prognosis and available treatment modalities.