# Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, and Somatic (VEXAS) Syndrome Presenting With Bicytopenia and Vasculitis

## TL;DR

This paper presents a case of VEXAS syndrome, a rare autoinflammatory disease, diagnosed through genetic testing in a patient with unexplained inflammation and blood abnormalities.

## Contribution

The contribution is a case report demonstrating the diagnostic value of genetic testing for VEXAS syndrome in patients with atypical symptoms.

## Key findings

- A 56-year-old man with fever, vasculitis, anemia, and thrombocytopenia was found to have a UBA1 somatic mutation.
- Bone marrow showed dysplastic features and foamy macrophages, supporting the diagnosis of VEXAS syndrome.
- The case emphasizes the need to consider VEXAS in patients with unexplained systemic inflammation and blood disorders.

## Abstract

Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic (VEXAS) syndrome is a recently described autoinflammatory condition caused by somatic mutations in the UBA1 gene, typically affecting adult males. Typical clinical features include systemic inflammation, hematologic abnormalities, and various cutaneous manifestations. Due to its recent recognition, the disease poses significant diagnostic and therapeutic challenges. We report the case of a 56-year-old man who presented with recurrent fever, skin lesions consistent with leukocytoclastic vasculitis, macrocytic anemia, and thrombocytopenia. Bone marrow examination revealed dysplastic features and foamy macrophages. Given the suspicion of an autoinflammatory disease, molecular testing using next-generation sequencing was requested, and a somatic mutation in UBA1 was confirmed. This case highlights the importance of considering VEXAS in patients with unexplained systemic inflammation and hematologic abnormalities, and underscores the utility of genetic testing in reaching a definitive diagnosis.