Recurrent orbital inflammation associated with VEXAS syndrome.

ABSTRACT

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a newly recognised adult-onset multisystem autoinflammatory disease caused by a somatic mutation in the UBA1 gene in myeloid or erythroid precursor cells. This report describes an atypical presentation of recurrent dacryoadenitis associated with VEXAS syndrome and provides a review of the literature. A 68-year-old male presented with three episodes of unilateral alternating dacryoadenitis followed by bilateral involvement over a 4-year period. Each episode of orbital inflammation was characterised by upper lid swelling, oedema and enlarged lacrimal glands. In addition, he experienced intermittent flares of angioedema-like lesions involving the face and extremities, recurrent jaw aches, rash, progressive pulmonary fibrosis, and myelodysplastic syndrome. His inflammatory symptoms lessened with prednisolone but were refractory to methotrexate. Mycophenolate was subsequently trialled with a reasonable clinical response. Genetic testing established the diagnosis of VEXAS syndrome and tofacitinib, a JAK inhibitor, was commenced with resolution of inflammatory symptoms.