疑似未分化自身炎症性疾病和 PFAPA 综合征成年患者的疾病表型:临床和治疗意义。

IF 9.2 1区 医学 Q1 IMMUNOLOGY Autoimmunity reviews Pub Date : 2024-07-01 DOI:10.1016/j.autrev.2024.103520
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引用次数: 0

摘要

背景:未分化自身炎症性疾病的特点是反复发热或持续发热,通常伴有其他炎症表现,单基因自身炎症性疾病的基因研究结果为阴性或不确定。目的:对在成人参考中心确诊的未分化自身炎症性疾病成年患者的疾病表型进行定义和特征描述,并分析所用药物的疗效,以提供实用的诊断和治疗建议:方法:回顾性研究(2015-2022 年)我们参考中心就诊的所有未分化自身炎症性疾病患者。收集了人口统计学、临床、实验室特征和详细的治疗信息:结果:在334名疑似自身炎症性疾病患者中,134名(40%)患者(61%为女性)被初步诊断为未分化自身炎症性疾病。发病和确诊时的平均年龄分别为 28.7 岁和 37.7 岁。90名患者(67.2%)的症状始于成年期。44名患者(32.8%)符合成人 PFAPA 综合征的诊断/分类标准。在其余患者中,根据主要表现又分为四种表型:a) 主要发热表型(n = 18;13.4%);b) 主要腹痛/瘙痒表型(n = 9;6.7%);c) 主要心包炎表型(n = 18;13.4%);d) 复杂综合征表型(n = 45;33.6%)。常用药物包括泼尼松(主要按需使用)、秋水仙碱和阿纳金雷。总体而言,41.3%的泼尼松患者、40.2%的秋水仙碱患者和58.3%的阿纳金拉患者获得了完全应答。从表型上看,泼尼松按需治疗对成人 PFAPA 综合征更有效,而秋水仙碱对腹部/瘙痒疼痛模式和 PFAPA 综合征患者更有效。复杂综合征患者在使用泼尼松(21.9%)、秋水仙碱(25.7%)和阿那曲林(44.4%)后获得了完全应答,是更常需要额外免疫抑制剂的群体:通过对最大的单中心未分化自身炎症性疾病成年患者系列进行分析,确定并描述了不同的疾病表型及其治疗方法。这项研究有望提高医生早期识别这些疾病的意识,并提供已知的最佳治疗方案。
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Disease phenotypes in adult patients with suspected undifferentiated autoinflammatory diseases and PFAPA syndrome: Clinical and therapeutic implications

Background

Undifferentiated autoinflammatory diseases are characterized by recurrent or persistent fever, usually combined with other inflammatory manifestations, and negative or inconclusive genetic studies for monogenic autoinflammatory disorders.

Aims

To define and characterize disease phenotypes in adult patients diagnosed in an adult reference center with undifferentiated autoinflammatory diseases, and to analyze the efficacy of the drugs used in order to provide practical diagnostic and therapeutic recommendations.

Methods

Retrospective study (2015–2022) of patients with undifferentiated autoinflammatory diseases among all patients visited in our reference center. Demographic, clinical, laboratory features and detailed therapeutic information was collected.

Results

Of the 334 patients with a suspected autoinflammatory disease, 134 (40%) patients (61% women) were initially diagnosed with undifferentiated autoinflammatory diseases. Mean age at disease onset and at diagnosis was 28.7 and 37.7 years, respectively. In 90 (67.2%) patients, symptoms started during adulthood. Forty-four (32.8%) patients met diagnostic/classification criteria for adult periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome. In the remaining patients, four additional phenotypes were differentiated according to the predominant manifestations: a) Predominantly fever phenotype (n = 18; 13.4%); b) Predominantly abdominal/pleuritic pain phenotype (n = 9; 6.7%); c) Predominantly pericarditis phenotype (n = 18; 13.4%), and d) Complex syndrome phenotype (n = 45; 33.6%). Prednisone (mainly on demand), colchicine and anakinra were the drugs commonly used. Overall, complete responses were achieved with prednisone in 41.3%, colchicine in 40.2%, and anakinra in 58.3% of patients in whom they were used. By phenotypes, prednisone on demand was more effective in adult PFAPA syndrome and colchicine in patients with the abdominal/pleuritic pain pattern and PFAPA syndrome. Patients with complex syndrome achieved complete responses with prednisone (21.9%), colchicine (25.7%) and anakinra (44.4%), and were the group more often requiring additional immunosuppressive drugs.

Conclusions

The analysis of the largest single-center series of adult patients with undifferentiated autoinflammatory diseases identified and characterized different disease phenotypes and their therapeutic approaches. This study is expected to contribute to increase the awareness of physicians for an early identification of these conditions, and to provide the best known therapeutic options.

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来源期刊
Autoimmunity reviews
Autoimmunity reviews 医学-免疫学
CiteScore
24.70
自引率
4.40%
发文量
164
审稿时长
21 days
期刊介绍: Autoimmunity Reviews is a publication that features up-to-date, structured reviews on various topics in the field of autoimmunity. These reviews are written by renowned experts and include demonstrative illustrations and tables. Each article will have a clear "take-home" message for readers. The selection of articles is primarily done by the Editors-in-Chief, based on recommendations from the international Editorial Board. The topics covered in the articles span all areas of autoimmunology, aiming to bridge the gap between basic and clinical sciences. In terms of content, the contributions in basic sciences delve into the pathophysiology and mechanisms of autoimmune disorders, as well as genomics and proteomics. On the other hand, clinical contributions focus on diseases related to autoimmunity, novel therapies, and clinical associations. Autoimmunity Reviews is internationally recognized, and its articles are indexed and abstracted in prestigious databases such as PubMed/Medline, Science Citation Index Expanded, Biosciences Information Services, and Chemical Abstracts.
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