Frontiers in Immunology (May 2024)

Case report: VEXAS syndrome: an atypical indolent presentation as sacroiliitis with molecular response to azacitidine

  • Roberto Pereira da Costa,
  • Roberto Pereira da Costa,
  • Guilherme Sapinho,
  • Guilherme Sapinho,
  • Matilde Bandeira,
  • Matilde Bandeira,
  • Joana Infante,
  • Joana Infante,
  • Tiago Marques,
  • Carla Mimoso Santos,
  • João Forjaz de Lacerda,
  • João Forjaz de Lacerda,
  • João Eurico Fonseca,
  • João Eurico Fonseca,
  • José Carlos Romeu

DOI
https://doi.org/10.3389/fimmu.2024.1403808
Journal volume & issue
Vol. 15

Abstract

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VEXAS syndrome is a recently described autoinflammatory syndrome caused by the somatic acquisition of UBA1 mutations in myeloid precursors and is frequently associated with hematologic malignancies, chiefly myelodysplastic syndromes. Disease presentation can mimic several rheumatologic disorders, delaying the diagnosis. We describe a case of atypical presentation resembling late-onset axial spondylarthritis, later progressing to a systemic inflammatory syndrome with chondritis, cutaneous vasculitis, and transfusion-dependent anemia, requiring high doses of steroids. Ruxolitinib was used as the first steroid-sparing strategy without response. However, azacitidine showed activity in controlling both inflammation and the mutant clone. This case raises the question of whether azacitidine’s anti-inflammatory effects are dependent on or independent of clonal control. We discuss the potential relevance of molecular remission in VEXAS syndrome and highlight the importance of a multidisciplinary team for the care of such complex patients.

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