VEXAS syndrome with severe multisystem involvement: Rapid recovery after splenectomy

Int J Rheum Dis. 2023 Mar;26(3):559-562. doi: 10.1111/1756-185X.14540. Epub 2022 Dec 21.

Abstract

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined disorder in which treatment is still unclear. Herein, a patient with VEXAS syndrome who had atypical findings and an interesting treatment course is presented as a case report. He had fatigue, recurrent fever, pulmonary infiltrates, proteinuria, anemia, leucopenia, transient skin rush and increased acute phase reactants. The patient, who could not tolerate corticosteroid tapering, recovered rapidly after diagnostic splenectomy and the pathological examination of the spleen revealed significant findings.

Keywords: VEXAS syndrome; proteinuria; splenectomy; vasculitis.

Publication types

  • Case Reports

MeSH terms

  • Anemia* / etiology
  • Humans
  • Male
  • Mutation
  • Myelodysplastic Syndromes
  • Skin Diseases, Genetic
  • Splenectomy / adverse effects
  • Syndrome
  • Thrombocytopenia*

Supplementary concepts

  • VEXAS syndrome