Article
Approaches for the diagnosis and treatment of VEXAS syndrome: the importance of clinical suspicion and the use of methotrexate.
Annals of hematology - 1 Nov 2024
De Santis Maria, Tonutti Antonio, Motta Francesca, Todisco Gabriele, Manes Nicla, Milanesi Chiara, Caselli Rossella, Albertazzi Serena, Bonometti Arturo, Selmi Carlo, Della Porta Matteo Giovanni
Abstract excerpt
Vacuoles, E1-enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is caused by mutations in the UBA1 gene in myeloid precursors, leading to systemic inflammatory manifestations. We present the case of a 75-year-old man presenting with fever, panniculitis, and macrocytic anemia testing repeatedly negative for UBA1 mutations in peripheral blood samples, but ultimately found positive on bone marrow...
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