Large-Vessel Vasculitis With Autoimmune Myelodysplastic Syndrome: An Uncommon Case of Large-Vessel Vasculitis With Cytopenia That Is Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic Syndrome (VEXAS) Negative

TL;DR

An elderly woman with fever and blood cell issues was diagnosed with a rare condition combining vasculitis and bone marrow disease, unrelated to a known syndrome.

Contribution

Reports a rare case of large-vessel vasculitis with autoimmune MDS, excluding VEXAS syndrome.

Findings

Patient showed improvement with corticosteroids and immunosuppressive therapy.

Diagnosis excluded infectious, malignant, and autoimmune causes like VEXAS syndrome.

Case emphasizes considering autoimmune MDS in elderly with unexplained fever and vasculitis.

Abstract

Autoimmune myelodysplastic syndrome (MDS) associated with large-vessel vasculitis (LVV) is an extremely rare clinical presentation. We report the case of an 80-year-old lady presenting with prolonged fever, cytopenias, and inflammatory features, later diagnosed as LVV with autoimmune MDS. Extensive evaluation excluded infectious, malignant, and other autoimmune etiologies, including VEXAS syndrome. The patient responded favorably to corticosteroids and immunosuppressive therapy, showing hematologic and clinical improvement. This case highlights the importance of considering autoimmune bone marrow disorders as a potential cause of unexplained fever with cytopenia and large vessel vasculitis in elderly individuals.

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