CeRéMAIA, Department of Genetics, CHU de Montpellier, Inserm, University of Montpellier, A. de Villeneuve Hospital, 371, avenue Doyen-Giraud, Montpellier, France.
CeRéMAIA, Department of Genetics, CHU de Montpellier, Inserm, University of Montpellier, A. de Villeneuve Hospital, 371, avenue Doyen-Giraud, Montpellier, France; CeRéMAIA, Department of Pediatrics, CHU de Montpellier, Pediatric Department, Montpellier, France.
Joint Bone Spine. 2023 Mar;90(2):105475. doi: 10.1016/j.jbspin.2022.105475. Epub 2022 Oct 28.
Systemic autoinflammatory diseases (SAIDs) are a group of disorders related to defective regulation of the innate immune system. Recurrence of inflammation can severely affect the patients' outcomes with a direct or indirect impact on their physical and mental health and/or global quality of life (QoL). We therefore sought to identify currently available QoL studies for these diseases as well as measurement tools at our disposal.
A systematic literature review was carried out with a focus on monogenic SAIDs. We inventoried the study designs developed in the selected publications, grouped them into similar topics, and listed the different outcome measures used for QoL.
We recorded 53 bibliographic references evaluating the impact of monogenic SAIDs on the patients' QoL. These publications revealed 150 different study designs and 82 outcome measures used for their assessment. The best-explored topics were the overall patients' QoL, followed by the evaluation of their psychosocial and physical functioning. We found fair coverage of familial Mediterranean fever, poor investigation of the mixed hereditary recurrent fever (HRF) group, cryopyrin-associated periodic diseases and cherubism, and almost no study of the other monogenic SAIDs.
This work revealed areas requiring further investigation such as homogenization of concepts, study of uncommon or more recent diseases, and development of more specific and validated outcome measures for SAIDs.
系统性自身炎症性疾病（SAIDs）是一组与先天免疫系统调节缺陷相关的疾病。炎症的复发会严重影响患者的预后，直接或间接地影响他们的身心健康和/或整体生活质量（QoL）。因此，我们试图确定目前针对这些疾病的 QoL 研究以及我们可用的测量工具。
对单基因 SAIDs 进行了系统的文献回顾。我们在选定出版物中列出了研究设计，将它们分组为类似的主题，并列出了用于 QoL 评估的不同的测量工具。
我们记录了 53 篇评估单基因 SAIDs 对患者 QoL 影响的文献参考。这些出版物揭示了 150 种不同的研究设计和 82 种用于评估的测量工具。最受关注的主题是患者整体 QoL，其次是心理社会和身体功能的评估。我们发现对家族性地中海热的研究比较充分，对混合遗传性复发性发热（HRF）组的研究较差，对 cryopyrin 相关周期性疾病和 cherubism 的研究几乎没有，对其他单基因 SAIDs 的研究则很少。
这项工作揭示了需要进一步研究的领域，如概念的统一、对罕见或更新的疾病的研究，以及为 SAIDs 开发更具体和经过验证的测量工具。
