SHM Converge Scientific Abstract ePoster Gallery-Vexas Syndrome Unveiled: A Multidimensional Journey From Presentation to Management

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This case describes an 83-year-old man with light chain MGUS, macrocytic anemia, and cytopenias who presented with hemorrhagic bullae on the hand, intermittent fevers, and persistent joint pain. His laboratory findings showed severe anemia, macrocytosis, thrombocytopenia, leukopenia, and elevated inflammatory markers. Diagnostic workup included a skin biopsy demonstrating neutrophilic dermatosis, CT imaging showing neutrophilic alveolitis, and bone marrow biopsy revealing vacuoles, hypercellularity, hyperplasia, and atypia. Genetic testing confirmed an 81% somatic UBA1 mutation, establishing the diagnosis of VEXAS syndrome.<br /><br />VEXAS is a recently recognized adult-onset autoinflammatory syndrome caused by somatic mutations in UBA1 on the X chromosome, affecting mainly older men. Typical features include recurrent fevers, skin lesions such as urticaria or bullae, anemia, cytopenias, thrombotic events, and vacuoles in bone marrow precursors. Because treatment options are limited, glucocorticoids remain the mainstay of therapy, though steroid-sparing agents such as tocilizumab and ruxolitinib may be helpful in some cases.<br /><br />In this patient, prednisone was started at 60 mg daily and tapered to 10 mg daily, with tocilizumab considered if symptoms recurred. Follow-up showed remission of symptoms with this regimen. The case highlights the importance of considering VEXAS syndrome in older men with unexplained inflammatory symptoms, cytopenias, macrocytic anemia, and skin manifestations, as early recognition can guide appropriate management.

Asset Subtitle

Tomas Escobar Gil

Meta Tag

Author List Abu B. Sheikh, Daniel Babu, Darrell D. Horton, Oscar F. Borja Montes, Tomas Escobar Gil

Category Clinical Vignettes

Concept VEXAS Syndrome

Concept UBA1 mutation

Concept Cytopenia

Concept Macrocytic Anemia

Concept Corticosteroid

Distinguished Non-Finalist

Presenter Organization University of New Mexico

Presenting Author Tomas Escobar Gil

Track Adult

Keywords

VEXAS syndrome

UBA1 mutation

macrocytic anemia

cytopenias

neutrophilic dermatosis

hemorrhagic bullae

older men

autoinflammatory syndrome

bone marrow vacuoles

glucocorticoid therapy

VEXAS Syndrome

UBA1 mutation

Cytopenia

Macrocytic Anemia

Corticosteroid