PDF(Pubmed)
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.
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：自身炎性疾病（AIDs）很少见，主要是影响先天免疫系统并与炎症症状相关的遗传疾病。儿科和成人患者每天都面临与他们的疾病相关的挑战，诊断和后续治疗。出于这个原因,FMF&AID全球协会与Erlangen周期性系统性自身炎性疾病中心合作开展了一项调查.
方法：调查的目的是收集受影响患者在诊断时限方面的现状的个人评估。基因测试的解释，误诊的数量，疼痛和疲劳，尽管治疗。
结果：总计，我们收集并分析了来自52个国家的1043例AID患者(829例成人和214例儿童/青少年)的数据.家族性地中海热（FMF）（521/50％）和Behçet病（311/30％）是最常见的疾病。儿童/青少年的平均诊断时间为3年，成人为14年。在诊断自身炎性疾病之前，患者接受了几次误诊，包括心身疾病.绝大多数患者报告说基因检测可用（92％），但只有69％的人接受了测试。共有217名患者报告说，在其疾病发作期间未检测到急性期反应物的增加。在AID患者中测量了疼痛和疲劳的强度，发现该强度很高。共有88%的受访者再次接受治疗,而8%的人报告没有治疗。
结论：AID患者，尤其是成年人,严重延误诊断，误诊,和各种症状，包括疼痛和疲劳。根据所提出的结果，在更广泛的医学界提高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。
方法：调查的目的是收集受影响患者在诊断时限方面的现状的个人评估。基因测试的解释，误诊的数量，疼痛和疲劳，尽管治疗。
结果：总计，我们收集并分析了来自52个国家的1043例AID患者(829例成人和214例儿童/青少年)的数据.家族性地中海热（FMF）（521/50％）和Behçet病（311/30％）是最常见的疾病。儿童/青少年的平均诊断时间为3年，成人为14年。在诊断自身炎性疾病之前，患者接受了几次误诊，包括心身疾病.绝大多数患者报告说基因检测可用（92％），但只有69％的人接受了测试。共有217名患者报告说，在其疾病发作期间未检测到急性期反应物的增加。在AID患者中测量了疼痛和疲劳的强度，发现该强度很高。共有88%的受访者再次接受治疗,而8%的人报告没有治疗。
结论：AID患者，尤其是成年人,严重延误诊断，误诊,和各种症状，包括疼痛和疲劳。根据所提出的结果，在更广泛的医学界提高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。
