Background: Behçet’s disease (BD) is a chronic multisystem inflammatory syndrome predominantly affecting young adults. It is characterized by recurrent oral and genital ulcers, uveitis, and systemic involvement that may affect the skin, musculoskeletal, gastrointestinal, and vascular systems. Conversely, VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic), first described in 2020, is a late adulthood disorder caused by somatic mutations in the UBA1 gene. It manifests as systemic inflammation, recurrent fevers, chondritis, cytopenia, vasculitis, and hematologic abnormalities.

Case presentation: 71-year-old male with hypertension, first presented in 2016 with bilateral ankle arthritis and a follicular rash. Skin biopsy showed pustular folliculitis. Laboratory tests revealed normal haemoglobin, elevated inflammatory markers, negative autoantibodies. Infection, malignancy and imaging signs of vasculitis were ruled out. He responded well to prednisone and methotrexate (MTX). Later, he reported recurrent oral aphthous ulcers and an erythema nodosum-like rash, biopsy showed pustular dermatitis. Laboratory tests showed a positive HLA-B51, favouring a diagnosis of BD. MTX was discontinued, colchicine and azathioprine were initiated achieving remission. In 2019, he was diagnosed with pulmonary embolism, treated with high-dose corticosteroids and cyclophosphamide, followed by a maintenance therapy with infliximab and azathioprine, achieving remission. In 2021, his non-vascular symptoms recurred, along with bilateral perichondritis. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) was diagnosed. Increasing infliximab dose and frequency achieved remission. In 2023, the patient presented with polyarthritis, recurrent fever, and worsening anaemia. Laboratory findings showed positive ANA, elevated inflammatory markers. Extensive workup ruled out infection, malignancy, and imaging signs of vasculitis. Bone marrow biopsy revealed dysplasia suggestive of myelodysplastic syndrome (MDS). Genetic testing identified a UBA1 mutation (c.121A>C,p.M41L), consistent with VEXAS syndrome. Treatment included corticosteroids and Azacitidine reducing transfusion dependency. Systemic inflammation symptoms persisted. Tocilizumab was attempted but discontinued due to an anaphylaxis-like reaction. Sarilumab was initiated after ruxolitinib was denied by health care provider. The patient continues to experience recurrent fever, polyarthritis, oral ulcers, rash, and elevated inflammatory markers. Ongoing management focuses on systemic disease control and addressing hematologic complications.

Learning points for clinical practice: Key lesson from this case was the decision to further explore VEXAS in an already diagnosed Bechet’s patient, as well as treatment consequences of this diagnosis.

REFERENCES: NIL.

Acknowledgements: The authors thank the patient for his participation in this study.

Disclosure of Interests: None declared.

© The Authors 2025. This abstract is an open access article published in Annals of Rheumatic Diseases under the CC BY-NC-ND license ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ). Neither EULAR nor the publisher make any representation as to the accuracy of the content. The authors are solely responsible for the content in their abstract including accuracy of the facts, statements, results, conclusion, citing resources etc.