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Maiada Alkattan1, Ahmed Ludvigsen Al-Mashhadi2, Marianne Schmidt Ettrup3

  • 1Reumatologisk Afdeling, Aalborg Universitetshospital.

Ugeskrift for Laeger
|March 9, 2023
PubMed
Summary

VEXAS syndrome, a newly identified autoinflammatory disorder, was diagnosed for the first time in North Denmark. This case report details a 76-year-old male patient with confirmed somatic UBA1 gene mutation.

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Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified autoinflammatory disorder.
  • It presents with diverse hematological and rheumatological symptoms and was first described in 2020.

Observation:

  • This report details the first diagnosed case of VEXAS syndrome in the North Denmark Region.
  • A 76-year-old male presented with COVID-19 and multiple symptoms including fever, weight loss, rash, jaw pain, and arthralgia.

Findings:

  • Diagnostic evaluation led to the suspicion and confirmation of VEXAS syndrome.
  • Confirmation was achieved through identifying a mutated ubiquitin-like modifier activating enzyme 1 (UBA1) gene.

Implications:

  • This case expands the geographical recognition of VEXAS syndrome.
  • It highlights the importance of genetic testing for UBA1 mutations in patients with unexplained systemic inflammation.

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