• Ioannis Tsourveloudis, Eleni C Georgiadi, Georgios Vatalis, and Paraskevi Kotsi.
• Transfusion Department, University General Hospital of Larissa, Larissa, Greece.
• Medicine (Baltimore). 2023 Dec 29; 102 (52): e36738e36738.

RationaleHematological malignancies have always been a challenge for scientists because there is a constant need to better define these entities. Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by ineffective hematopoiesis. Cytogenetics and molecular findings are a prerequisite for these syndromes as they confirm the clonal nature of the disease. However, MDS is often linked to autoimmunity and inflammation as part of its pathogenesis. Recently, VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) linked these two in a single mutation, suggesting that the heterogeneity among hematological malignancies often demands a more personalized medicine by tailoring medical treatment to the individual characteristics of each patient.Patient ConcernsWe present a case of VEXAS syndrome regarding a 63-year-old male patient who initially presented with episodes of low fever, polyarthritis of the knees and ankles, polymyalgia, and fatigue. His laboratory examinations revealed increased levels of serum inflammatory markers.DiagnosesDiagnosis was based on high clinical suspicion, laboratory findings, and vacuolization of the erythroid and myeloid precursors in the bone marrow evaluation. Mutational status of ubiquitin-like modifier activating enzyme 1 gene was positive with a 68.8% allelomorph frequency (rs782416867).InterventionsTherapy was based on controlling inflammation with the use of glucocorticoids and treating MDS-related anemia with the use of erythropoietin.OutcomesCurrently, the patient visits our department regularly. He is still receiving the aforementioned treatment. He did not mention any new incidents for the time being.LessonsVEXAS syndrome as a newly identified entity might be often underestimated since its clinical presentation is notably diverse.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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