Department of Paediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.
Ann Rheum Dis. 2013 May;72(5):678-85. doi: 10.1136/annrheumdis-2011-201268. Epub 2012 Jun 29.
To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review.
The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase.
22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative.
In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.
通过国际注册和最新文献回顾评估自身炎症性疾病的治疗反应。
通过一个基于网络的注册系统研究了治疗反应，该系统作为 Eurofever 倡议的一部分，回顾性地收集了自身炎症性疾病匿名患者的临床信息。参与的医院包括儿科风湿病学组织网络的儿科风湿病学中心和对自身炎症性疾病有特定兴趣的成人中心。纳入的疾病包括家族性地中海热（FMF）、冷吡啉相关周期性综合征（CAPS）、肿瘤坏死因子（TNF）受体相关周期性综合征（TRAPS）、甲羟戊酸激酶缺乏症（MKD）、脓疱性关节炎脓疱性痤疮（PAPA）综合征、白细胞介素-1 受体拮抗剂缺乏症（DIRA）、NLRP12 相关周期性发热和周期性发热性口疮咽炎腺炎（PFAPA）综合征。每种疾病的病例均由专家独立验证。还使用 Medline 和 Embase 对上述疾病的治疗进行了文献检索。
在登记开始后的 22 个月，获得了 496 例经过验证的患者的完整信息。来自注册系统的数据结合文献证据证实，秋水仙碱是 FMF 的治疗选择，IL-1 阻断剂是 DIRA 和 CAPS 的治疗选择。按需使用皮质类固醇可能是 PFAPA 的有效治疗策略，但也适用于 MKD 和 TRAPS。对于控制不佳的 MKD、TRAPS、PAPA 或 FMF 患者，IL-1 阻断可能受益；抗 TNF 治疗可能是一种有价值的替代方法。
在缺乏高级别证据的情况下，这些结果可以作为治疗指南的基础，并确定候选药物用于未来的治疗试验。
