SHM Converge Scientific Abstract ePoster Gallery-A Rare Case of Vexas Syndrome

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VEXAS syndrome is a rare, progressive, multisystem autoinflammatory disease caused by somatic mutations in the UBA1 gene in hematopoietic precursor cells. It typically affects men over 50 and can involve the skin, cartilage, lungs, blood vessels, and bone marrow. Because symptoms are broad and overlap with many other disorders, diagnosis is often delayed. Bone marrow biopsy and genetic testing are central to diagnosis, with characteristic cytoplasmic vacuolization in myeloid and erythroid precursors.<br /><br />The case presented an 82-year-old man with a history of DVT, splenic infarct, MGUS, iron deficiency anemia, and presumed giant cell arteritis (GCA). He had previously been treated with steroids and intermittent tocilizumab for headaches, jaw claudication, elevated CRP, and fevers, although temporal artery biopsy and PET imaging were not diagnostic for vasculitis. He was admitted with fever, shortness of breath, acute hypoxic respiratory failure, kidney injury, anemia, thrombocytopenia, and a morbilliform rash. During hospitalization he developed pancytopenia, and bronchoscopy showed acute alveolar hemorrhage. Infectious workup was negative, and his respiratory status worsened with steroid tapering, requiring ICU care.<br /><br />A bone marrow biopsy demonstrated hypercellular marrow with myeloid predominance, dysplastic features, and prominent vacuolization. Genetic sequencing identified a UBA1 mutation, confirming VEXAS syndrome. The patient was discharged on oxygen after a prolonged hospital course and had significant decline from baseline.<br /><br />Treatment options remain limited and include prolonged high-dose steroids, tocilizumab, and JAK inhibitors such as ruxolitinib or tofacitinib for refractory disease. However, steroid toxicity can be substantial. The report emphasizes the importance of recognizing VEXAS early to reduce morbidity and mortality and calls for further research into prevalence and optimal management.

Asset Subtitle

Stephanie Analytis

Meta Tag

Author List Lisa Baumann Kreuziger, Pinky Jha, Stephanie Analytis, Taha Kothari

Category Clinical Vignettes

Concept VEXAS Syndrome

Concept Multisystem Inflammatory Disease

Concept UBA1 gene

Concept Cytoplasmic vacuolization

Concept Bone Marrow Biopsy

Distinguished Non-Finalist

Presenter Organization Medical College of Wisconsin

Presenting Author Stephanie Analytis

Track Adult

Keywords

VEXAS syndrome

UBA1 mutation

autoinflammatory disease

bone marrow biopsy

cytoplasmic vacuolization

pancytopenia

alveolar hemorrhage

giant cell arteritis

tocilizumab

JAK inhibitors

VEXAS Syndrome

Multisystem Inflammatory Disease

UBA1 gene

Cytoplasmic vacuolization

Bone Marrow Biopsy