Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) with prominent supraglottic larynx involvement: a case-based review

Clin Rheumatol. 2022 Nov;41(11):3565-3572. doi: 10.1007/s10067-022-06338-1. Epub 2022 Aug 20.

Abstract

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) is a recently described genetic disorder that gathers autoinflammatory symptoms and myeloid dysplasia. The first description was reported in 2020, and subsequently, a growing number of cases have been described worldwide. Herein, we describe a case of a 72-year-old male patient with VEXAS syndrome with p.Met41Val mutation of the UBA1 gene, prominent supraglottic larynx involvement, and costochondritis. To our knowledge, this is the first report of VEXAS syndrome in Colombia and South America. This disease could present features of relapsing polychondritis, polyarteritis nodosa, giant cell arteritis, and Sweet syndrome, associated with hematologic involvement, including cytopenias, myelodysplastic syndrome, or thromboembolic disease. Supraglottic larynx chondritis and costochondritis are atypical manifestations. These features were proposed previously to differentiate relapsing polychondritis from VEXAS syndrome but are not entirely reliable like in the case described. A diagnosis of VEXAS should be considered in male patients with incomplete or complete features of the previously described conditions, refractory to treatment, requiring high-dose glucocorticoids, and associated progressive hematologic abnormalities. Key Points • VEXAS syndrome is a recently described genetic (somatic mutations in UBA1 gene) disorder that gathers autoinflammatory and hematologic manifestations. • VEXAS syndrome should be considered in male patients with incomplete or complete features of relapsing polychondritis, polyarteritis nodosa, giant cell arteritis, and Sweet syndrome, refractory to treatment, associated with hematologic involvement, including cytopenias, myelodysplastic syndrome, or thromboembolic disease. • Glucocorticoids ameliorate symptoms effectively. However, other treatment options are limited due to a lack of evidence. Traditional immunosuppressants and biological therapy have been used empirically with limited efficacy and a transient effect. Bone marrow transplant offers a curative approach, but it has high morbidity and mortality.

Keywords: Myelodysplastic syndromes; Polyarteritis nodosa; Relapsing polychondritis; VEXAS syndrome; Vasculitis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aged
  • Giant Cell Arteritis* / complications
  • Giant Cell Arteritis* / diagnosis
  • Giant Cell Arteritis* / genetics
  • Humans
  • Immunosuppressive Agents / therapeutic use
  • Larynx*
  • Male
  • Myelodysplastic Syndromes* / complications
  • Polyarteritis Nodosa*
  • Polychondritis, Relapsing* / complications
  • Polychondritis, Relapsing* / diagnosis
  • Polychondritis, Relapsing* / genetics
  • Sweet Syndrome* / complications
  • Vacuoles

Substances

  • Immunosuppressive Agents