Unravelling VEXAS syndrome: shedding light on a recently recognised medical condition

Department

Internal Medicine

Additional Department

Oncology and Hematology

Document Type

Article

Publication Title

BMJ Case Reports

Abstract

VEXAS syndrome, caused by somatic UBA1 mutations in haematopoietic cells, presents a complex clinical spectrum. A patient in his 70s initially exhibited urticarial vasculitis-like symptoms, leading to inconclusive dermatological investigations and varied treatments. Conflicting biopsy results prolonged the diagnostic process, highlighting the syndrome's enigmatic nature. The evolving symptoms involved cutaneous, haematological and musculoskeletal manifestations and ultimately revealed a UBA1 mutation. Treatment challenges persisted, with dapsone, mycophenolate mofetil and corticosteroids showing limited efficacy. Tocilizumab, guided by multidisciplinary collaboration and genetic sequencing, yielded positive results, emphasising its promising role. The discussion explores VEXAS syndrome's multifaceted nature, its association with myelodysplastic syndrome, diagnostic complexities and varied treatment responses. Despite advances, the prognosis remains guarded. However, individually tailored approaches and continued research will lead to improved outcomes. This case report underscores the importance of interdisciplinary collaboration, heightened awareness and personalised strategies in managing VEXAS syndrome

First Page

e263248

DOI

10.1136/bcr-2024-263248

Volume

18

Issue

6

Publication Date

6-10-2025

Medical Subject Headings

Humans; Male; Aged; Syndrome; Myelodysplastic Syndromes; Mutation; Antibodies, Monoclonal, Humanized; Skin Diseases, Genetic; Ubiquitin-Activating Enzymes

PubMed ID

40499953

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