VEXAS syndrome in a woman

Abstract

Dear Editor, A 51-year-old woman without medical history was referred for evaluation of recurrent fever, polyarthritis, episcleritis, and progressive hearing loss. The symptoms had been present for several months, and arthritis mainly affecting large joints. The audiologic examination confirmed a severe sensorineural hearing loss on the left side. Laboratory workup revealed an inflammatory response with a CRP of 360 mg/l (normal <2.9 mg/l) with normal neutrophil count and no anaemia but elevated mean corpuscular volume (114 fl). B9 and B12 vitamin levels were normal, reticulocytes count was low and thyroid hormones were normal. Bone marrow examination found non-specific inflammatory changes, without features suggestive of myelodysplasia. There was no ANA, nor ACPA, nor ANCA. RF and cryoglobulin were absent. Thorough investigations for infections were negative, including cultures of blood, stool and urine, as well as several bacterial and viral serologies. The analysis of synovial fluid, obtained from the right knee,...