Background: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described adult-onset autoinflammatory disease caused by somatic mutations in the UBA1 gene. Its heterogeneous clinical presentation frequently overlaps with inflammatory, autoimmune, and hematological disorders, resulting in diagnostic delay. We report the first genetically confirmed case of VEXAS syndrome in Tunisia and highlight its clinical complexity, with particular emphasis on cardiac and ocular involvement, as well as therapeutic management in light of current literature. Case Presentation: A 70-year-old man followed at a tertiary university hospital in Tunisia presented with recurrent fever, weight loss, inflammatory arthritis, recurrent myopericarditis, ocular inflammation, skin lesions, peripheral neuropathy, and cytopenias. Laboratory investigations showed severe macrocytic anemia and markedly elevated inflammatory markers. After extensive exclusion of infectious, autoimmune, and malignant etiologies, molecular analysis identified a pathogenic somatic UBA1 mutation (p.Met41Thr), confirming the diagnosis of VEXAS syndrome. High-dose systemic corticosteroid therapy resulted in rapid initial clinical and biological improvement; however, infectious complications and disease relapse occurred during dose tapering. Conclusion: This case highlights the multisystemic and progressive nature of VEXAS syndrome and reinforces the role of corticosteroids as first-line therapy, while underlining their limitations. Awareness of this emerging entity and early genetic testing are essential to optimize management and reduce morbidity.
Oumaima et al. (Thu,) studied this question.