Case report: diagnosis of VEXAS syndrome in a patient with therapy-resistant large vessel vasculitis

VEXAS (Vacuoles, E1 enzyme, X-linked, Auto-Inflammatory, Somatic) syndrome is a recently identified multisystemic auto-inflammatory condition caused by somatic mutations in the UBA1 gene. This syndrome presents diagnostic challenges due to its rare nature and varied clinical manifestations. We repor...

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Bibliographic Details
Published in:Acta clinica belgica (English ed. Online) 2024-04, Vol.79 (2), p.143-147
Main Authors: Boret, M, Malfait, T
Format: Article
Language:English
Subjects:
Aged
Humans
Male
Mutation
Myelodysplastic Syndromes - complications
Myelodysplastic Syndromes - diagnosis
Myelodysplastic Syndromes - genetics
Ubiquitin-Activating Enzymes - genetics
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Summary:VEXAS (Vacuoles, E1 enzyme, X-linked, Auto-Inflammatory, Somatic) syndrome is a recently identified multisystemic auto-inflammatory condition caused by somatic mutations in the UBA1 gene. This syndrome presents diagnostic challenges due to its rare nature and varied clinical manifestations. We report the clinical course of a 76-year-old man with therapy-resistant large vessel vasculitis and myelodysplastic syndrome (MDS), eventually confirmed as VEXAS syndrome. The patient responded well to corticosteroid therapy. However, over two years, he faced multiple hospital admissions due to inflammatory flare-ups during corticosteroid tapering. Several immunosuppressive therapies were attempted without success. Further research is essential to understand this complex syndrome's pathophysiology, genetics, clinical course, and treatment options, ultimately benefiting both patients and healthcare providers.
ISSN:1784-3286
2295-3337
2295-3337
DOI:10.1080/17843286.2024.2312627