SHM Converge Scientific Abstract ePoster Gallery-Vexas Syndrome-a Newly Discovered Autoimmune and Hematologic Overlap Condition

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VEXAS syndrome is a recently recognized adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene on the X chromosome. It typically affects older men and presents with severe systemic inflammation plus hematologic abnormalities such as macrocytic anemia, thrombocytopenia, thromboembolic disease, and increased risk of myelodysplastic syndrome or multiple myeloma. Common inflammatory manifestations include vasculitis, polychondritis, neutrophilic dermatoses, skin disease, and lung involvement.<br /><br />The case describes a 67-year-old man with refractory psoriasiform dermatitis, recurrent fever of unknown origin, weight loss, infections, prior thrombotic thrombocytopenic purpura, and multiple venous thromboemboli. On exam, he was febrile, tachycardic, and had widespread poikilodermatous plaques, retiform purpura on the legs, and crusted facial plaques. Labs showed leukocytosis, severe anemia, and mild macrocytosis. Biopsies revealed psoriasiform dermatitis, thrombotic vasculopathy, and medium-vessel vasculitis. Bone marrow biopsy did not show malignancy or the characteristic vacuoles, but this did not exclude VEXAS.<br /><br />His course included repeated hospitalizations for persistent inflammation and infections, with limited response or toxicity to cyclosporine, methotrexate, prednisone, acitretin, topical steroids, and ustekinumab. Genetic testing for VEXAS was pending.<br /><br />The key takeaway is that VEXAS should be considered in patients with treatment-refractory systemic inflammatory disease accompanied by hematologic abnormalities, especially macrocytic anemia, cytopenias, and thrombosis. Early recognition matters because the syndrome is associated with significant morbidity, mortality, and potentially treatable complications.

Asset Subtitle

Jason M. Lucas

Meta Tag

Author List Hila Calev, Jason M. Lucas, Justin Cheeley

Category Clinical Vignettes

Concept VEXAS Syndrome

Concept UBA1 gene

Concept Systemic Inflammation

Concept Macrocytic Anemia

Concept Somatic Mutation

Distinguished Non-Finalist

Presenter Organization Emory University School of Medicine

Presenting Author Jason M. Lucas

Track Adult

Keywords

VEXAS syndrome

UBA1 mutation

adult-onset autoinflammatory disorder

macrocytic anemia

thrombocytopenia

thromboembolic disease

vasculitis

psoriasiform dermatitis

myelodysplastic syndrome

systemic inflammation

VEXAS Syndrome

UBA1 gene

Systemic Inflammation

Macrocytic Anemia

Somatic Mutation