Background: 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.
Basic Procedures: 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.
Main Findings: 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.
Conclusions: 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.
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| http://dx.doi.org/10.1016/j.jbspin.2022.105475 | DOI Listing |
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