VEXAS syndrome: an adult-onset autoinflammatory disorder with underlying somatic mutation.

IF 5.2 2区 医学 Q1 RHEUMATOLOGY Current opinion in rheumatology Pub Date : 2024-10-28 DOI:10.1097/BOR.0000000000001068
Ina Kötter, Martin Krusche
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Abstract

Purpose of review: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) was first described in 2020, where in a cohort of adults with unexplained fever or inflammation, systematic genetic testing was performed and 25 men with a median age of 64 years and somatic mutations in the UBA1 gene were identified. In the current review, we aim to discuss the relevant literature from January 2023 until July 2024 to give new insights into the pathophysiology, epidemiology, diagnosis and treatment of VEXAS.

Recent findings: VEXAS affects 1 : 4269 in men over the age of 50. Janus-Kinase-inhibitors (JAKi) and IL-6-inhibitors are more effective immunosuppressants against hyperinflammation. Ruxolitinib is more effective than other JAKi. Azacitidine induces remission in many patients, but only few MDS-associated patients were treated. Allogeneic stem cell transplantation is feasible for selected cases. Infections are the major cause of death. Prognosis is still poor with a 5-year mortality rate of 18-40%.

Summary: In the current review, we discuss the novelties for VEXAS, including pathogenic pathways, epidemiological data, diagnostic criteria and algorithms, treatment options and complications. We hope that this review may improve rheumatologists understanding of VEXAS. We strongly recommend enrolling VEXAS patients in registries and clinical trials, to improve prognosis of VEXAS in the future.

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VEXAS综合征:一种成人发病的自身炎症性疾病,伴有潜在的体细胞突变。
综述的目的:VEXAS综合征(空泡、E1酶、X-连锁、自身炎症、体细胞)于2020年首次被描述,在一个原因不明的发热或炎症的成人队列中,进行了系统的基因检测,发现了25名男性,中位年龄为64岁,UBA1基因发生了体细胞突变。在本综述中,我们旨在讨论从 2023 年 1 月到 2024 年 7 月的相关文献,以便对 VEXAS 的病理生理学、流行病学、诊断和治疗有新的认识:VEXAS 影响 1 :4269例。Janus-激酶抑制剂(JAKi)和IL-6抑制剂是对抗高炎症更有效的免疫抑制剂。Ruxolitinib比其他JAKi更有效。阿扎胞苷可使许多患者病情缓解,但只有少数MDS相关患者接受了治疗。同种异体干细胞移植适用于部分病例。感染是死亡的主要原因。小结:在本综述中,我们讨论了 VEXAS 的新特点,包括致病途径、流行病学数据、诊断标准和算法、治疗方案和并发症。我们希望这篇综述能增进风湿病学家对 VEXAS 的了解。我们强烈建议将VEXAS患者纳入登记册和临床试验,以改善未来VEXAS的预后。
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来源期刊
Current opinion in rheumatology
Current opinion in rheumatology 医学-风湿病学
CiteScore
9.70
自引率
2.00%
发文量
89
审稿时长
6-12 weeks
期刊介绍: A high impact review journal which boasts an international readership, Current Opinion in Rheumatology offers a broad-based perspective on the most recent and exciting developments within the field of rheumatology. Published bimonthly, each issue features insightful editorials and high quality invited reviews covering two or three key disciplines which include vasculitis syndromes, medical physiology and rheumatic diseases, crystal deposition diseases and rheumatoid arthritis. Each discipline introduces world renowned guest editors to ensure the journal is at the forefront of knowledge development and delivers balanced, expert assessments of advances from the previous year.
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