A Case of VEXAS Syndrome

EXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a rare disease caused by somatic mutations in the UBA1 gene, first identified in 2020. Prevalence is unclear, and there are no established treatment guidelines, highlighting the need for disease recognition.

We report the case of a 34-year-old African American man with a prior diagnosis of rheumatoid arthritis who developed migratory arthritis, pustular acne, and hidradenitis suppurativa. Despite suggestive clinical features, delayed access to biologic therapy contributed to disease progression and resulted in hospitalization. After extensive genetic and clinical evaluation, he was diagnosed with PAPASH syndrome.

VEXAS syndrome results from dysregulation in the ubiquitylation pathway, causing autoinflammatory and hematologic symptoms. Diagnosis is challenging due to variable presentation. Bone marrow biopsy and genomic testing for UBA1 mutation are crucial for diagnosis. Treatment focuses on controlling inflammation with steroids and IL-6 receptor antagonists such as tocilizumab.

We present this case to raise awareness of this recently established condition. Further understanding will aid in optimizing management and improving clinical outcomes.