Aortitis PET Imaging in VEXAS Syndrome: A Case Report

Area of Science:

• Medicine
• Genetics
• Immunology

Background:

• VEXAS (vacuoles, E1 enzyme, X-LINKED, autoinflammatory, somatic) syndrome is an adult-onset inflammatory condition linked to somatic mutations in the UBA1 gene.
• It presents with a spectrum of systemic inflammatory symptoms, including vasculitis, arthralgia, and cytopenias.

Observation:

• A 75-year-old male patient with VEXAS syndrome exhibited thrombophlebitis, leukocytoclastic vasculitis, chronic arthralgia, elevated inflammatory markers, and anemia.
• 18F-FDG PET/CT imaging revealed thoracic aortitis, an uncommon manifestation of VEXAS syndrome.

Findings:

• The patient was diagnosed with VEXAS syndrome based on clinical presentation and likely genetic underpinnings.
• Corticosteroid therapy was initiated and its efficacy was monitored using serial 18F-FDG PET/CT scans.

Implications:

• This case highlights thoracic aortitis as a rare but potential complication of VEXAS syndrome.
• 18F-FDG PET/CT serves as a valuable tool for assessing disease activity and treatment response in VEXAS syndrome, even in rare vascular involvements.
• Successful management with corticosteroids and imaging-guided monitoring suggests a viable therapeutic strategy for such complex cases.