VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a late-onset autoinflammatory disorder caused by somatic mutations in the ubiquitin-attaching protein 1 (<i>UBA1</i>) gene. It primarily affects men aged over 50. We report a middle-aged man presenting with bilateral orbital inflammation, sixth nerve palsy, relapsing polychondritis, sensorineural hearing loss, possible vestibulopathy and a papulovesicular rash. He had macrocytic anaemia and elevated inflammatory markers, but normal autoimmune and infective screens. Imaging identified features of orbital pseudotumour. Genetic testing confirmed a <i>UBA1</i> p.Met41Thr mutation, confirming VEXAS syndrome. We gave intravenous methylprednisolone, then oral prednisolone and subsequently tocilizumab. This case highlights the multisystem presentation and rare neurological manifestations of VEXAS syndrome and emphasises the importance of genetic testing in its diagnosis. Current treatment options include corticosteroids, interleukin-6 inhibitors and Janus kinase inhibitors, with haematopoietic stem cell transplantation offering curative potential.