Annals of Internal Medicine: Clinical Cases (Jun 2024)
Macrocytic Anemia: A Presenting Feature of VEXAS Syndrome
Abstract
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an X-linked multisystem inflammatory syndrome characterized by a combination of various clinical features, including myeloid dysplasia, sweet syndrome, relapsing polychondritis, polyarteritis nodosa, and giant cell arteritis. In this report, we present a patient who was initially evaluated for macrocytic anemia but subsequently developed additional clinical features, leading to the diagnosis of VEXAS syndrome based on genetic analysis.