Vasculitis associated with VEXAS syndrome.

IF 4.7 2区 医学 Q1 RHEUMATOLOGY
Megan M Sullivan, Carolyn Mead-Harvey, Julio C Sartori-Valinotti, Kambiz Kalantari, Yael N Kusne, Mrinal M Patnaik, Abhishek A Mangaonkar, Ronald S Go, Daniel Montes, Kaaren K Reichard, Horatiu Olteanu, Melanie C Bois, Alexander S Hines, Kenneth J Warrington, Matthew J Koster
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引用次数: 0

Abstract

Objectives: To define the prevalence, distribution and characteristics of patients with VEXAS (vacuoles, E1-enzyme, X-linked, autoinflammation, somatic) syndrome who have confirmed vasculitis.

Methods: Patients with VEXAS syndrome, verified by positive UBA1 mutation, were included. Chart review was performed to identify patient characteristics and outcomes. Vasculitis diagnosis was based on either histopathology showing vascular inflammation or non-invasive angiography findings. Summary statistics were calculated.

Results: Eighty-nine patients met inclusion criteria. All were male with a median age of onset of 66.9 years (interquartile range 60.1, 72.7). Median (interquartile range) follow-up was 3.8 (2.2-5.5) years, during which 21 patients (23.6%) had evidence of vasculitis. Vasculitis subtypes included small vessel vasculitis (19.1%), cutaneous medium vessel vasculitis (2.2%) and large vessel vasculitis (2.2%). No patient had more than one vessel size involved. Histopathology in small vessel vasculitis patients was consistent with cutaneous leukocytoclastic vasculitis in the majority, though one patient had leukocytoclastic peritubular capillaritis on renal biopsy. Cranial symptoms (headache, vision changes or jaw pain) were noted in 18.0%. Two additional patients not experiencing cranial symptoms exhibited large vessel involvement with confirmed carotid thickening on non-invasive angiography; one of these had a positive temporal artery biopsy.

Conclusion: VEXAS syndrome manifests as a variable vessel vasculitis in a quarter of patients, with cutaneous small and medium vessel involvement being particularly common. Some patients may have positive ANCA serologies or even renal vasculitis leading to misdiagnosis. Cranial symptoms are common and may mimic GCA, though documented large vessel inflammation is rare.

与 VEXAS 综合征相关的血管炎。
目的界定确诊为血管炎的 VEXAS 患者的患病率、分布和特征:纳入经 UBA1 突变阳性证实的 VEXAS 综合征患者。患者:特征和结果。血管炎诊断基于组织病理学显示的血管炎症或非侵入性血管造影结果。结果89 名患者符合纳入标准。所有患者均为男性,中位发病年龄为 66.9 岁(IQR 60.1,72.7)。随访中位数(IQR)为 3.8(2.2-5.5)年,期间有 21 名患者(23.6%)出现脉管炎症状。血管炎亚型包括小血管炎(19.1%)、皮肤中血管炎(2.2%)和大血管炎(2.2%)。没有患者的血管大小超过一种。大多数小血管炎患者的组织病理与皮肤白细胞凝集性血管炎一致,但有一名患者的肾活检结果显示患有白细胞凝集性肾小管周围毛细血管炎。18.0%的患者出现头颅症状(头痛、视力改变或下颌疼痛)。另有两名未出现头颅症状的患者表现为大血管受累,无创血管造影证实颈动脉增厚;其中一人的颞动脉活检结果呈阳性:结论:VEXAS综合征在四分之一的患者中表现为可变血管脉管炎,皮肤中小血管受累尤为常见。一些患者的ANCA血清学检查可能呈阳性,甚至肾血管炎也可能导致误诊。头颅症状很常见,可能与巨细胞动脉炎相似,但记录在案的大血管炎很少见。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Rheumatology
Rheumatology 医学-风湿病学
CiteScore
9.40
自引率
7.30%
发文量
1091
审稿时长
2 months
期刊介绍: Rheumatology strives to support research and discovery by publishing the highest quality original scientific papers with a focus on basic, clinical and translational research. The journal’s subject areas cover a wide range of paediatric and adult rheumatological conditions from an international perspective. It is an official journal of the British Society for Rheumatology, published by Oxford University Press. Rheumatology publishes original articles, reviews, editorials, guidelines, concise reports, meta-analyses, original case reports, clinical vignettes, letters and matters arising from published material. The journal takes pride in serving the global rheumatology community, with a focus on high societal impact in the form of podcasts, videos and extended social media presence, and utilizing metrics such as Altmetric. Keep up to date by following the journal on Twitter @RheumJnl.
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