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

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.