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[VEXAS syndrome : when do we have to consider it ?]

Yann Coattrenec1, Caroline De Lorenzi2, Kaveh Samii3

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VEXAS syndrome, an adult-onset inflammatory condition, is caused by UBA1 gene mutations. Azacitidine shows promise, but further research is needed for this rare disease.

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Area of Science:

  • Genetics
  • Immunology
  • Hematology

Background:

  • VEXAS syndrome is a recently identified adult-onset autoinflammatory disease.
  • It presents with systemic inflammation, cytopenias, and neutrophilic tissue infiltration.
  • The condition stems from somatic mutations in the UBA1 gene, encoding the E1 ubiquitin-activating enzyme.

Purpose of the Study:

  • To describe two new cases of VEXAS syndrome.
  • To highlight the association of VEXAS syndrome with pyoderma gangrenosum and cryoglobulinemia.
  • To contribute to the understanding of VEXAS syndrome presentation and management.

Main Methods:

  • Clinical case reporting.
  • Review of patient medical history and diagnostic findings.
  • Analysis of treatment responses.

Main Results:

  • Two adult patients with VEXAS syndrome were identified.
  • One case presented with pyoderma gangrenosum and cryoglobulinemia, expanding the known clinical spectrum.
  • Initial treatment with systemic corticosteroids provided symptomatic relief.

Conclusions:

  • VEXAS syndrome requires further investigation due to its complex presentation.
  • Azacitidine is a potential therapeutic option, warranting additional clinical trials.
  • Recognition of associated conditions like pyoderma gangrenosum is crucial for comprehensive patient care.