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

IF 1.6 4区 医学 Q2 Medicine Acta Clinica Belgica Pub Date : 2024-04-01 Epub Date: 2024-02-05 DOI:10.1080/17843286.2024.2312627
M Boret, T Malfait
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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.

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病例报告:耐药大血管炎患者的 VEXAS 综合征诊断。
VEXAS(空泡、E1酶、X-连锁、自身炎症、体细胞)综合征是最近发现的一种由 UBA1 基因体细胞突变引起的多系统自身炎症。该综合征因其罕见的性质和多种多样的临床表现,给诊断带来了挑战。我们报告了一名 76 岁男性患者的临床病程,他患有耐药性大血管炎和骨髓增生异常综合征(MDS),最终被确诊为 VEXAS 综合征。患者对皮质类固醇治疗反应良好。然而,在两年多的时间里,他多次因皮质类固醇减量期间炎症复发而入院。他尝试了多种免疫抑制疗法,但都没有成功。要想了解这种复杂综合征的病理生理学、遗传学、临床过程和治疗方案,就必须开展进一步的研究,最终使患者和医疗服务提供者都能从中受益。
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来源期刊
Acta Clinica Belgica
Acta Clinica Belgica 医学-医学:内科
CiteScore
2.90
自引率
0.00%
发文量
44
审稿时长
6-12 weeks
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.
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