Stephanie Analytis, DO; Taha Kothari, BS; Janavi Wagle; KhouaNeng Thao, BS; Emre Ozcerkirdek, MD; Rizwan Ahmed, DO; Samantha Huether, DO; Lisa Baumann Krueziger, MD; Bailey Hutchison, MD; Pinky Jha, MD
WMJ. 2025;124(5):496-499.
ABSTRACT
Introduction: VEXAS 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.
Case presentation: An 82-year-old man presented with hypoxic respiratory failure, fever, rash, and pancytopenia. After an extensive workup, he was diagnosed with VEXAS syndrome based on bone marrow biopsy and genomic testing.
Discussion: 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.
Conclusions: We present this case to raise awareness of this recently established condition. Further understanding will aid in optimizing management and improving clinical outcomes.