Epiescleritis y edema periorbitario secundario a síndrome VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)
- Patricia Fanlo-Mateo 1
- M. López de San Román 1
- A. Fonollosa 2
- J. Ilarramendi 1
- H. Heras 1
- P. Grayson 3
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1
Hospital Universitario de Navarra
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Hospital Universitario de Navarra
Pamplona, España
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2
Instituto de Investigación Sanitaria Biocruces Bizkaia
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Instituto de Investigación Sanitaria Biocruces Bizkaia
Barakaldo, España
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3
National Institute of Arthritis and Musculoskeletal and Skin Diseases
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National Institute of Arthritis and Musculoskeletal and Skin Diseases
Bethesda, Estados Unidos
ISSN: 0365-6691
Year of publication: 2023
Volume: 98
Issue: 10
Pages: 607-610
Type: Article
More publications in: Archivos de la Sociedad Española de Oftalmologia
Abstract
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly described autoinflammatory entity caused by a UBA-1 gene mutation. Among the most frequent symptoms it produces fever, cytopenias, polychondritis, pulmonary infiltrates and up to 40% ocular involvement such as periorbital edema, uveitis, episcleritis, scleritis and retinal vasculitis. Patients respond to high doses of corticosteroids, however, many end up being refractory to them and to the classic immunosuppressants. We described the case of a 77-year-old male patient with ocular involvement in the form of episcleritis and periorbital edema who was later diagnosed with VEXAS syndrome. The patient, after failing treatment with immunosuppressants, is currently receiving treatment with oral steroids and tocilizumab. Ophthalmologist must be aware of the ophthalmological affectation of autoinflammatory diseases and especially of this new entity described as the VEXAS syndrome.