Department of Pediatrics and Pediatric Rheumatology, National Reference Center for Auto-Inflammatory Disorders, Bicêtre University Hospital, Paris XI University, Le Kremlin-Bicêtre, France.
Ann Rheum Dis. 2011 Feb;70(2):309-14. doi: 10.1136/ard.2010.132613. Epub 2010 Nov 15.
The systemic autoinflammatory disorders (SAID) share many clinical manifestations, albeit with variable patterns, intensity and frequency. A common definition of disease activity would be rational and useful in the management of these lifelong diseases. Moreover, standardised disease activity scores are required for the assessment of new therapies in constant development. The aim of this study was to develop preliminary activity scores for familial Mediterranean fever, mevalonate kinase deficiency, tumour necrosis factor receptor-1-associated periodic syndrome and cryopyrin-associated periodic syndromes (CAPS).
The study was conducted using two well-recognised consensus formation methods: the Delphi technique and the nominal group technique. The results from a two-step survey and data from parent/patient interviews were used as preliminary data to develop the agenda for a consensus conference to build a provisional scoring system.
24 of 65 experts in SAID from 20 countries answered the web questionnaire and 16 attended the consensus conference. There was consensus agreement to develop separate activity scores for each disease but with a common format based on patient diaries. Fever and disease-specific clinical variables were scored according to their severity. A final score was generated by summing the score of all the variables divided by the number of days over which the diary was completed. Scores varied from 0 to 16 (0-13 in CAPS). These scores were developed for the purpose of clinical studies but could be used in clinical practice.
Using widely recognised consensus formation techniques, preliminary scores were obtained to measure disease activity in four main SAID. Further prospective validation study of this instrument will follow.
全身炎症性疾病（SAID）具有许多临床表现，尽管表现形式、强度和频率各不相同。疾病活动的通用定义在这些终身疾病的管理中是合理且有用的。此外，为了评估不断开发的新疗法，需要标准化的疾病活动评分。本研究旨在为家族性地中海热、甲羟戊酸激酶缺乏症、肿瘤坏死因子受体 1 相关周期性综合征和 Cryopyrin 相关周期性综合征（CAPS）制定初步的活动评分。
本研究使用两种公认的共识形成方法：德尔菲技术和名义群体技术。两步调查的结果和来自父母/患者的访谈数据被用作初步数据，以制定共识会议的议程，以建立一个临时评分系统。
来自 20 个国家的 65 名 SAID 专家中的 24 名回答了网络问卷，16 名参加了共识会议。专家们达成共识，为每种疾病制定单独的活动评分，但采用基于患者日记的共同格式。发热和疾病特异性临床变量根据其严重程度进行评分。最终评分通过将所有变量的评分除以完成日记的天数得出。评分范围从 0 到 16（CAPS 为 0-13）。这些评分是为临床研究目的而制定的，但也可在临床实践中使用。
使用广泛认可的共识形成技术，获得了衡量四种主要 SAID 疾病活动的初步评分。该工具的进一步前瞻性验证研究将随后进行。
