VEXAS syndrome:  Mise au point

Ababsa Mouaki, Abdelhak; Abbasi, Ouassila

Batna Journal of Medical Sciences
Volume 12, Numéro 1, Pages 1-8
2026-04-01

Vexas Syndrome: Mise Au Point

Auteurs : Ababsa Mouaki Abdelhak . Abbasi Ouassila .

Résumé

Summary VEXAS is an acronym (vacuoles, enzyme E1, X-linked, autoinflammatory, somatic) that designates an autoinflammatory syndrome in adults first described in 2020. It is linked to the occurrence of acquired somatic mutations in the UBA1 (ubiquitin-activating enzyme E1) gene, located on the X chromosome and restricted to the hematopoietic compartment. It primarily affects men over 50 years of age and combines systemic inflammatory manifestations with suggestive hematological abnormalities. A diagnosis of VEXAS syndrome should be considered in male patients presenting with incomplete or complete features of relapsing polychondritis, polyarteritis nodosa, giant cell arteritis, and Sweet's syndrome, refractory to treatment and associated with hematological involvement, including cytopenias, myelodysplastic syndrome, or thromboembolic disease. Diagnosis relies on the identification of pathogenic variants of UBA1 (primarily p.Met41) in the blood or bone marrow. Management, which is still poorly defined, is based on two approaches: anti-inflammatory treatment (corticosteroids, tocilizumab, JAK inhibitors) and/or targeting of the mutated hematopoietic clone (azacitidine, allogeneic hematopoietic stem cell transplantation), combined with supportive care.