Epiescleritis y edema periorbitario secundario a síndrome VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic)

  1. Patricia Fanlo-Mateo 1
  2. M. López de San Román 1
  3. A. Fonollosa 2
  4. J. Ilarramendi 1
  5. H. Heras 1
  6. P. Grayson 3
  1. 1 Hospital Universitario de Navarra
    info

    Hospital Universitario de Navarra

    Pamplona, España

  2. 2 Instituto de Investigación Sanitaria Biocruces Bizkaia
    info

    Instituto de Investigación Sanitaria Biocruces Bizkaia

    Barakaldo, España

    ROR https://ror.org/0061s4v88

  3. 3 National Institute of Arthritis and Musculoskeletal and Skin Diseases
    info

    National Institute of Arthritis and Musculoskeletal and Skin Diseases

    Bethesda, Estados Unidos

    ROR https://ror.org/006zn3t30

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Revue:
Archivos de la Sociedad Española de Oftalmologia

ISSN: 0365-6691

Année de publication: 2023

Volumen: 98

Número: 10

Pages: 607-610

Type: Article

DOI: 10.1016/J.OFTAL.2023.07.003 DIALNET GOOGLE SCHOLAR

D'autres publications dans: Archivos de la Sociedad Española de Oftalmologia

Résumé

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.

La source de données: Dialnet