{"title":"Case report: diagnosis of VEXAS syndrome in a patient with therapy-resistant large vessel vasculitis.","authors":"M Boret, T Malfait","doi":"10.1080/17843286.2024.2312627","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":7086,"journal":{"name":"Acta Clinica Belgica","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Clinica Belgica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/17843286.2024.2312627","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/2/5 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍:
Acta Clinica Belgica: International Journal of Clinical and Laboratory Medicine primarily publishes papers on clinical medicine, clinical chemistry, pathology and molecular biology, provided they describe results which contribute to our understanding of clinical problems or describe new methods applicable to clinical investigation. Readership includes physicians, pathologists, pharmacists and physicians working in non-academic and academic hospitals, practicing internal medicine and its subspecialties.