VEXAS syndrome presenting with features of Sjögren’s disease: a case-based review of VEXAS and autoimmune disease overlap

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic syndrome) is an adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene. While its clinical spectrum is expanding, the overlap with autoimmune diseases remains poorly characterized. We present the first reported case of VEXAS featuring overlap with Sjögren’s disease. An 86-year-old man with myelodysplastic syndrome developed recurrent fevers, a skin rash, chondritis, bilateral anterior uveitis, acute kidney injury, and macrocytic anemia. He had chronic xerostomia, high titer SSA antibodies, and a positive rheumatoid factor, suggestive of Sjögren’s disease. Genetic testing confirmed a UBA1 p.Met41Thr mutation. Our literature review revealed VEXAS co-occurring with various autoimmune conditions, including vasculitides, systemic lupus erythematosus, rheumatoid arthritis, spondyloarthritis, myositis, and autoimmune blistering diseases. Sjögren’s disease has not previously been associated with VEXAS. This report adds to the growing evidence of VEXAS-associated autoimmunity. Recognition of such overlap may influence early diagnostic consideration and genetic testing in elderly patients with autoimmune features and cytopenias. Further studies are needed to discern whether these autoimmune features represent independent disease processes or manifestations of VEXAS itself.