VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) Syndrome in a Patient Presenting With Auricular...

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described autoinflammatory disorder caused by somatic UBA1 mutations in hematopoietic stem and progenitor cells. It typically presents in older males with treatment-refractory systemic inflammation and hematologic abnormalities. We report a case of a 92-year-old male who presented with auricular chondritis and other systemic symptoms, including inflammatory arthritis, conjunctivitis, and a diffuse rash. Laboratory evaluation revealed macrocytic anemia and elevated inflammatory markers, with largely negative autoimmune serologies aside from a mildly elevated rheumatoid factor. Bone marrow analysis showed cytoplasmic vacuolization of myeloid and erythroid precursors, and genetic testing identified a UBA1 p.Met41Thr pathogenic variant, confirming the diagnosis of VEXAS syndrome. Treatment with oral prednisone, monthly tocilizumab infusions, and supportive epoetin alfa-epbx led to significant clinical improvement. This case underscores the importance of considering VEXAS syndrome in elderly male patients presenting with unexplained systemic inflammation, chondritis, and cytopenias, and highlights the critical roles of early recognition, multidisciplinary evaluation, and timely genetic testing in diagnosis and management.