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Updated: Aug 27, 2025

Induction of Ocular Surface Inflammation and Collection of Involved Tissues
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Recurrent orbital inflammation associated with VEXAS syndrome.

Mark B Beecher1, Jessica Y Tong1,2, Luke A Halliday1,2

  • 1Discipline of Ophthalmology and Visual Sciences, University of Adelaide, Adelaide, Australia.

Orbit (Amsterdam, Netherlands)
|September 28, 2022
PubMed
Summary

VEXAS syndrome, a somatic mutation autoinflammatory disease, can present atypically with recurrent dacryoadenitis. Early diagnosis and targeted therapies like JAK inhibitors offer symptom resolution.

Keywords:
VEXASdacryoadenitislid oedemaorbital inflammationperiorbital inflammation

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Area of Science:

  • Immunology
  • Genetics
  • Ophthalmology

Background:

  • VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an adult-onset autoinflammatory disease.
  • It results from somatic mutations in the UBA1 gene affecting myeloid/erythroid precursor cells.

Observation:

  • A 68-year-old male presented with recurrent unilateral and bilateral dacryoadenitis over four years.
  • Associated symptoms included facial/extremity angioedema, jaw aches, rash, pulmonary fibrosis, and myelodysplastic syndrome.

Findings:

  • The patient's inflammatory symptoms partially responded to prednisolone but were refractory to methotrexate.
  • Mycophenolate showed a reasonable clinical response.
  • Genetic testing confirmed VEXAS syndrome.

Implications:

  • This case highlights an atypical presentation of VEXAS syndrome involving dacryoadenitis.
  • JAK inhibitors, such as tofacitinib, may effectively manage VEXAS syndrome symptoms.
  • Recognizing diverse VEXAS presentations is crucial for timely diagnosis and treatment.