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DOI: 10.48087/BJMS.2026.130410
Authors: Abdelhak ABABSA MOUAKI, Ouassila ABBASI
Affiliations: Service de médecine interne EHS Athmana Mahmoud, Batna – Algérie
Abstract
VEXAS is an acronym standing for vacuoles, enzyme E1, X-linked, autoinflammatory, and somatic. It designates an autoinflammatory syndrome in adults, first described in 2020, linked to acquired somatic mutations in the UBA1 gene (ubiquitin-activating enzyme E1), located on the X chromosome and restricted to the hematopoietic compartment. The syndrome primarily affects men over 50 years of age, combining systemic inflammatory manifestations with suggestive hematological abnormalities. VEXAS syndrome should be considered in male patients presenting with incomplete or complete features of relapsing polychondritis, polyarteritis nodosa, giant cell arteritis, or Sweet’s syndrome — particularly when refractory to treatment and associated with hematological involvement such as cytopenias, myelodysplastic syndrome, or thromboembolic disease. Diagnosis relies on the identification of pathogenic variants of UBA1 — primarily p.Met41 — in blood or bone marrow. Management remains poorly defined and is based on two complementary approaches: anti-inflammatory treatment (corticosteroids, tocilizumab, JAK inhibitors) and/or targeting of the mutated hematopoietic clone (azacitidine, allogeneic hematopoietic stem cell transplantation), combined with appropriate supportive care.
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Keywords: VEXAS syndrome, UBA1, Myelodysplastic syndrome, Autoinflammatory diseases.