SHM Converge Scientific Abstract ePoster Gallery-Perplexed by Vexas: A Novel Inflammatory Syndrome

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This case describes a 70-year-old man with a history of HLA-B27-associated anterior uveitis, spondyloarthropathy, and drug-induced leukocytoclastic vasculitis who presented with 3 weeks of worsening fatigue, fevers, weakness, brain fog, weight loss, intermittent rashes, and diarrhea. He had already undergone more than a year of outpatient rheumatology evaluation for nonspecific, multisystem symptoms.<br /><br />On admission, the differential included infection, hemolytic anemia, and hemophagocytic lymphohistiocytosis (HLH). Key laboratory abnormalities included severe anemia, thrombocytopenia, markedly elevated inflammatory markers, ferritin of 100,000 ng/mL, very high D-dimer, and elevated LDH. CT chest showed bronchial wall thickening and consolidations, but the initial infectious workup was negative.<br /><br />During hospitalization, his fever and cytopenias worsened, prompting bone marrow biopsy. Preliminary pathology suggested HLH and myelodysplastic syndrome (MDS), and vacuolization was noted. He was treated with high-dose methylprednisolone, then anakinra was started when autoimmune/inflammatory disease remained suspected. Despite temporary improvement, he later deteriorated with recurrent fevers, tachycardia, rash, worsening inflammatory markers, rigors, and transfusion-dependent anemia. Because of the combination of inflammatory disease, cytopenias, and marrow vacuoles, testing for UBA1 mutation was pursued. The result was positive, confirming VEXAS syndrome.<br /><br />VEXAS is a newly recognized autoinflammatory syndrome caused by acquired UBA1 mutation, seen mainly in older men and associated with fevers, skin lesions, lung involvement, cytopenias, and rheumatologic disease. This case highlights the importance of considering VEXAS in patients with treatment-refractory inflammatory disease plus hematologic abnormalities, especially when bone marrow vacuolization and MDS-like findings are present. The patient ultimately transitioned to comfort care and died.

Asset Subtitle

Rida Fatima

Meta Tag

Author List Diana Nguyen, Rida Fatima, Sarah L. Herrman

Category Clinical Vignettes

Concept VEXAS Syndrome

Concept UBA1 mutation

Concept Cytopenia

Concept Cytoplasmic vacuolization

Concept Autoinflammatory Syndrome

Distinguished Non-Finalist

Presenter Organization University of California Davis Medical Center

Presenting Author Rida Fatima

Track Adult

Keywords

VEXAS syndrome

UBA1 mutation

autoinflammatory disease

bone marrow vacuolization

myelodysplastic syndrome

hemophagocytic lymphohistiocytosis

cytopenias

fever

anemia

HLA-B27-associated uveitis

VEXAS Syndrome

UBA1 mutation

Cytopenia

Cytoplasmic vacuolization

Autoinflammatory Syndrome