SHM Converge Scientific Abstract ePoster Gallery-When the Diagnosis Does Not Follow the Sheet Music: Coordinating Acute Care for Vexas Syndrome

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This case highlights VEXAS syndrome, a rare late-onset autoinflammatory disease caused by somatic UBA1 mutations, in a 65-year-old man with recurrent inflammatory episodes, macrocytic cytopenias, and steroid-responsive disease. The diagnosis was initially difficult and was only recognized when a rheumatologist familiar with VEXAS encountered the patient.<br /><br />Key diagnostic clues included unexplained cytopenias, macrocytosis without B12 or folate deficiency, elevated inflammatory markers, recurrent culture-negative “infections,” and bone marrow vacuolization. The case underscores that VEXAS should be considered in older men with recurrent fever, systemic inflammation, and hematologic abnormalities.<br /><br />Management was complex because infection risk and inflammatory flares overlapped, making immunosuppression difficult to balance. The patient required multidisciplinary coordination among hospital medicine, rheumatology, and hematology. Because stem-cell transplantation may be the most definitive treatment, care eventually transitioned to hematology for longitudinal planning.<br /><br />The report emphasizes several practical lessons for hospitalists: recognize atypical inflammatory syndromes early, coordinate care across specialties, manage prolonged and resource-intensive hospitalizations, and ensure safe transitions to outpatient follow-up. It also notes important unanswered questions, including the best steroid-sparing therapy, optimal timing for transplant, predictors of ICU complications, and long-term outcomes after allogeneic stem cell transplant.<br /><br />Overall, this case illustrates both the diagnostic challenge of VEXAS and the central role of hospitalists in identifying the syndrome, balancing immunosuppression with infection prevention, and supporting complex multidisciplinary care.

Asset Subtitle

Asad Arastu

Meta Tag

Author List Asad Arastu, Katherine Oakden

Category Clinical Vignettes

Concept VEXAS Syndrome

Concept UBA1 Somatic Mutation

Concept Systemic Inflammation

Concept Macrocytic Cytopenia

Concept Cytoplasmic vacuolization

Distinguished Non-Finalist

Presenter Organization University of Pennsylvania

Presenting Author Asad Arastu

Track Adult

Keywords

VEXAS syndrome

UBA1 mutation

autoinflammatory disease

macrocytic cytopenias

bone marrow vacuolization

recurrent fever

systemic inflammation

steroid-responsive

multidisciplinary care

allogeneic stem cell transplant

VEXAS Syndrome

UBA1 Somatic Mutation

Systemic Inflammation

Macrocytic Cytopenia

Cytoplasmic vacuolization