SHM Converge Scientific Abstract ePoster Gallery-Vexas Syndrome: Causing a Fluid Wave

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This case report describes a 76-year-old man with no significant past medical history who presented with one week of abdominal pain, fever, and night sweats. Initial evaluation showed macrocytic anemia, elevated inflammatory markers, abdominal ascites with mesenteric edema, and hepatic surface nodularity. Ascitic fluid was neutrophil-predominant but culture-negative, and liver biopsy showed necroinflammatory injury. During hospitalization, he developed pulmonary emboli, persistent cough, migratory polyarthralgias, worsening macrocytic anemia and thrombocytopenia, and a non-blanching erythematous rash consistent with neutrophilic dermatosis. Bone marrow biopsy revealed vacuoles in erythroid and myeloid precursors, and genetic testing identified somatic mutations in ASXL1 and UBA1 (G646fs*12), confirming VEXAS syndrome.<br /><br />VEXAS is an adult-onset autoinflammatory syndrome caused by somatic UBA1 mutations, typically affecting older men and associated with fever, rash, vasculitis, pulmonary findings, macrocytosis, thrombocytopenia, and other inflammatory features. This case is notable because ascites had not previously been reported as a manifestation of VEXAS syndrome. The patient’s abdominal symptoms and ascites improved after treatment with methylprednisone at 1 mg/kg/day, suggesting inflammation played a major role in the ascites pathogenesis.<br /><br />The report emphasizes that VEXAS should be considered in older patients with unexplained systemic inflammation, hematologic abnormalities, and ascites without a clear cause.

Asset Subtitle

Anna K. Mischel

Meta Tag

Author List Alexandra Sykes, Anna K. Mischel, Patrick J. Henry, Tarlan Moinizandi, Tyler Hohnholt

Category Clinical Vignettes

Concept VEXAS Syndrome

Concept UBA1 Somatic Mutation

Concept Bone marrow vacuolization

Concept Constitutional Symptoms

Concept Macrocytic Anemia

Distinguished Non-Finalist

Presenter Organization University of California San Diego School of Medicine

Presenting Author Anna K. Mischel

Track Adult

Keywords

VEXAS syndrome

UBA1 mutation

ASXL1 mutation

ascites

macrocytic anemia

thrombocytopenia

autoinflammatory syndrome

neutrophilic dermatosis

pulmonary embolism

methylprednisone

VEXAS Syndrome

UBA1 Somatic Mutation

Bone marrow vacuolization

Constitutional Symptoms

Macrocytic Anemia