Annals of Internal Medicine: Clinical Cases (Jun 2024)

Macrocytic Anemia: A Presenting Feature of VEXAS Syndrome

  • Indira Acharya,
  • Bernadette C. Siaton,
  • Christopher J. Haas

DOI
https://doi.org/10.7326/aimcc.2023.1416
Journal volume & issue
Vol. 3, no. 6

Abstract

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VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an X-linked multisystem inflammatory syndrome characterized by a combination of various clinical features, including myeloid dysplasia, sweet syndrome, relapsing polychondritis, polyarteritis nodosa, and giant cell arteritis. In this report, we present a patient who was initially evaluated for macrocytic anemia but subsequently developed additional clinical features, leading to the diagnosis of VEXAS syndrome based on genetic analysis.