# Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) Syndrome With Multisystem Involvement: Imaging and Genetic Insights From a Case Report

## TL;DR

VEXAS syndrome is a rare, life-threatening condition caused by UBA1 gene mutations, leading to multisystem inflammation and improved with treatment.

## Contribution

This case report provides imaging and genetic insights into VEXAS syndrome, emphasizing its multisystem involvement and diagnostic challenges.

## Key findings

- VEXAS syndrome was diagnosed via UBA1 mutation (p.Met41Val) and characteristic clinical features.
- Treatment with tocilizumab and corticosteroids led to significant clinical improvement.
- Imaging revealed cartilaginous inflammation and pulmonary infiltrates in the patient.

## Abstract

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently recognized, life-threatening autoinflammatory disorder caused by somatic mutations in the UBA1 gene, resulting in dysregulated innate immune responses. It predominantly affects older males and is characterized by systemic inflammation involving multiple organ systems. We report the case of an 85-year-old man with recurrent inflammation affecting the ears, nose, skin, lungs, and hematologic system. Laboratory tests revealed cytopenias and elevated inflammatory markers, while imaging showed cartilaginous inflammation and pulmonary infiltrates. Bone marrow biopsy demonstrated vacuolated myeloid precursors, and genetic testing confirmed a UBA1 mutation (p.Met41Val), establishing the diagnosis. Treatment with tocilizumab and corticosteroids led to marked clinical improvement. This case highlights the importance of considering VEXAS syndrome in patients with unexplained systemic inflammation and hematologic abnormalities to ensure timely diagnosis and appropriate management.