由国际风湿性关节炎工作组专家小组制定的美国风湿病学会风湿性关节炎诊断和管理指南声明。

IF 10.9 1区医学 Q1 RHEUMATOLOGY

Arthritis & Rheumatology Pub Date : 2025-08-11 DOI:10.1002/art.43287

Arsene M Mekinian,Sophie Georgin-Lavaille,Marcela A Ferrada,Sinisa Savic,Matthew J Koster,Olivier Kosmider,Thibault Comont,Mael Heilblig,Juan I Arostegui,Annmarie Bosco,Rim Bourguiba,Katherine R Calvo,Catherine Cargo,Chiara Cattaneo,François Chasset,Henrique Coelho,Corrado Campochiaro,Francesca Crisafulli,Stephanie Ducharme-Benard,Raquel Faria,Franco Franceschini,Micol Frassi,Emma M Groarke,Carmelo Gurnari,Yervand Hakobyan,Yvan Jamilloux,Ciprian Jurcut,Yohei Kirino,Austin Kulasekararaj,Hiroyoshi Kunimoto,Lauren M Madigan,Heřman F Mann,Chiara Marvisi,Marcin Milchert,Sara Morais,Katja Sockel,Francesco Muratore,Hideaki Nakajima,Mrinal M Patnaik,Luísa Regadas,Marie Robin,Abraham Rutgers,Carlo Salvarani,Anthony M Sammel,Joerg Seebach,Pierre Sujobert,Alessandro Tomelleri,Geoffrey Urbanski,Frédéric Vandergheynst,Romana Vieira,David S Viswanatha,Ewa Więsik-Szewczyk,Elisa Diral,Benjamin Terrier,Bhavisha A Patel,Pierre Fenaux,Peter C Grayson,David B Beck,

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引用次数: 0

摘要

目的：evas是最近发现的一种罕见的与UBA1基因体细胞突变相关的遗传病。VEXAS表现为炎症和血液学表现的结合，导致发病率和死亡率增加。方法考虑到疾病表现的可变性和迄今为止有限的研究数量，目前还没有临床文献为卫生保健提供者提供有关VEXAS管理的指导。为了解决这一差距，我们组建了一个由VEXAS专家组成的国际多学科小组。结果：通过正式会议和投票程序，该小组对VEXAS管理的临床指导考虑事项达成了共识。这些考虑为以下几个关键主题提供了实用建议：(1)VEXAS的临床特征，(2)UBA1筛查方法，(3)VEXAS患者骨髓增生异常综合征（mds）的诊断，以及(4)预后和管理。目的是就哪些患者需要检测、如何检测VEXAS、在VEXAS的背景下如何处理MDS以及管理方面的考虑提供专家指导。这项工作标志着首个正式的国际共识指南，旨在作为临床医生寻求了解该疾病及其管理的资源。

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American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel.

OBJECTIVE Vacuoles E1 enzyme X-linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality. METHODS Given the variability in disease presentation and the limited number of studies to date, no clinical documents currently exist to provide guidance to health care providers about the management of VEXAS. To address this gap, we formed an international multidisciplinary panel of VEXAS experts. RESULTS Through formalized meetings and a voting process, the group developed consensus clinical guidance considerations for the management of VEXAS. These considerations offer practical advice on several key topics: (1) clinical features of VEXAS, (2) UBA1 screening methods, (3) the diagnosis of myelodysplastic syndromes (MDSs) in patients with VEXAS, and (4) prognosis and management. The aim is to provide expert guidance on which patients to test, how to test for VEXAS, how to approach MDS in the context of VEXAS, and considerations for management. CONCLUSION This work marks the first formal international consensus guidance for VEXAS and is intended to be used as a resource for clinicians seeking to understand the disease and its management.

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来源期刊

Arthritis & Rheumatology RHEUMATOLOGY-

CiteScore

20.90

自引率

3.00%

发文量

371

期刊介绍： Arthritis & Rheumatology is the official journal of the American College of Rheumatology and focuses on the natural history, pathophysiology, treatment, and outcome of rheumatic diseases. It is a peer-reviewed publication that aims to provide the highest quality basic and clinical research in this field. The journal covers a wide range of investigative areas and also includes review articles, editorials, and educational material for researchers and clinicians. Being recognized as a leading research journal in rheumatology, Arthritis & Rheumatology serves the global community of rheumatology investigators and clinicians.