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自身炎症性疾病管理中的患者体验与挑战——来自国际家族性地中海热与自身炎症性疾病全球协会调查的数据

Patient Experiences and Challenges in the Management of Autoinflammatory Diseases-Data from the International FMF & AID Global Association Survey.

作者信息

Rech Jürgen, Schett Georg, Tufan Abdurrahman, Kuemmerle-Deschner Jasmin B, Özen Seza, Tascilar Koray, Geck Leonie, Krickau Tobias, Cohen Ellen, Welzel Tatjana, Kuehn Marcus, Vetterli Malena

机构信息

Department of Internal Medicine 3, Rheumatology and Immunology, Friedrich-Alexander University (FAU), Erlangen-Nürnberg and Universitätsklinikum Erlangen, 91054 Erlangen, Germany.

Deutsches Zentrum Immuntherapie, Friedrich-Alexander University (FAU), Erlangen-Nürnberg and Universitätsklinikum Erlangen, 91054 Erlangen, Germany.

出版信息

J Clin Med. 2024 Feb 20;13(5):1199. doi: 10.3390/jcm13051199.

DOI:10.3390/jcm13051199
PMID:38592017
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10931825/
Abstract

BACKGROUND

Autoinflammatory diseases (AIDs) are rare, mostly genetic diseases that affect the innate immune system and are associated with inflammatory symptoms. Both paediatric and adult patients face daily challenges related to their disease, diagnosis and subsequent treatment. For this reason, a survey was developed in collaboration between the FMF & AID Global Association and the Erlangen Center for Periodic Systemic Autoinflammatory Diseases.

METHODS

The aim of the survey was to collect the personal assessment of affected patients with regard to their current status in terms of diagnostic timeframes, the interpretation of genetic tests, the number of misdiagnoses, and pain and fatigue despite treatment.

RESULTS

In total, data from 1043 AID patients (829 adults and 214 children/adolescents) from 52 countries were collected and analyzed. Familial Mediterranean fever (FMF) (521/50%) and Behçet's disease (311/30%) were the most frequently reported diseases. The average time to diagnosis was 3 years for children/adolescents and 14 years for adults. Prior to the diagnosis of autoinflammatory disease, patients received several misdiagnoses, including psychosomatic disorders. The vast majority of patients reported that genetic testing was available (92%), but only 69% were tested. A total of 217 patients reported that no increase in acute-phase reactants was detected during their disease episodes. The intensity of pain and fatigue was measured in AID patients and found to be high. A total of 88% of respondents received treatment again, while 8% reported no treatment.

CONCLUSIONS

AID patients, particularly adults, suffer from significant delays in diagnosis, misdiagnosis, and a variety of symptoms, including pain and fatigue. Based on the results presented, raising awareness of these diseases in the wider medical community is crucial to improving patient care and quality of life.

摘要

背景

自身炎症性疾病（AIDs）是罕见的、大多为遗传性疾病，会影响先天性免疫系统，并伴有炎症症状。儿科和成年患者在日常中都面临与疾病、诊断及后续治疗相关的挑战。因此，周期性系统性自身炎症性疾病埃尔朗根中心与FMF&AID全球协会合作开展了一项调查。

方法

该调查旨在收集受影响患者对其当前状况的个人评估，内容涉及诊断时间框架、基因检测解读、误诊次数以及治疗后仍存在的疼痛和疲劳情况。

结果

总共收集并分析了来自52个国家的1043例AID患者（829名成年人和214名儿童/青少年）的数据。家族性地中海热（FMF）（521例/50%）和白塞病（311例/30%）是报告最多的疾病。儿童/青少年的平均诊断时间为3年，成人为14年。在自身炎症性疾病被诊断之前，患者曾多次被误诊，包括身心障碍。绝大多数患者报告有基因检测可用（92%），但只有69%的患者接受了检测。共有217例患者报告在疾病发作期间未检测到急性期反应物增加。对AID患者的疼痛和疲劳强度进行了测量，发现强度较高。共有88%的受访者再次接受了治疗，而8%的受访者报告未接受治疗。

结论

AID患者，尤其是成年患者，在诊断方面存在显著延迟、误诊情况，并且伴有包括疼痛和疲劳在内的各种症状。基于所呈现的结果，提高广大医学界对这些疾病的认识对于改善患者护理和生活质量至关重要。

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