Systemic autoinflammatory diseases (SAIDs) impose a heavy and often invisible burden on patients’ quality of life, according to a multicenter qualitative study conducted at three sites of the French National Reference Centre for SAIDs (CEREMAIA). The research, published open access in Arthritis Research & Therapy, used in-depth semi-structured interviews to identify which aspects of health matter most to patients and families affected by familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), TRAPS, CAPS, PFAPA, and Still’s disease. The goal was to lay the conceptual groundwork for a disease-specific, patient-reported outcome measure, since quality of life is routinely assessed in chronic disease but the specific impact of SAIDs has remained insufficiently described.
The study took a phenomenological approach, a qualitative method designed to capture lived experience from the patient’s own perspective. Interviews were conducted prospectively with parents on behalf of children under six years old, separately with both patients and parents for those aged six to seventeen, and with adults alone. In total, the researchers analyzed 58 interviews involving 39 patients and their parents. This design allowed the team to compare how the same disease is experienced at different developmental stages and from different positions within a family.
Three main dimensions emerged from the analysis. The first, labeled “Self,” centered on a substantial emotional burden. Patients described anxiety in the period before diagnosis, fear of innovative treatments that had been initiated at a very young age, and frustration connected to pain, physical limitations, and changes to their bodies. Pain was often reported as invasive and overwhelming, dominating the experience of flares.
The intermittent and unpredictable course of SAIDs shaped daily life in distinctive ways. Because flares cannot be reliably foreseen, patients reported learning to anticipate possible triggers and to adjust their daily activities around the threat of an attack. Attitudes toward medical care were frequently ambivalent: participants expressed gratitude for treatments that worked, while simultaneously worrying about their long-term effects. This tension between relief and apprehension is a detail the authors argue conventional outcome measures may miss.
The second dimension, “Others,” concerned interpersonal life. SAIDs deeply affected family dynamics, with siblings sometimes reacting with jealousy or overprotection and parental attention perceived as unevenly distributed among children. Episodes of strain within conjugal relationships were also reported. Beyond the household, patients and parents encountered a lack of understanding from relatives and peers, a problem the authors link to the often-invisible nature of the diseases. In response, some patients chose to hide their symptoms or avoid discussing the illness altogether.
The third dimension, “Society,” mapped the disease onto education and work. Unpredictable flares disrupted school attendance, shaped educational choices, limited career opportunities, and occasionally resulted in professional exclusion. Patients frequently adapted their aspirations to accommodate disease-related constraints, narrowing long-term plans around the realities of recurrent illness.
The authors conclude that quality of life in SAIDs is affected across multiple, interlocking dimensions spanning the personal, familial, and societal spheres. They present these findings as the conceptual foundation for developing SAID-specific patient-reported outcome measures intended to capture the lived experience of patients more faithfully than generic instruments.
As a qualitative study, the work describes patients’ reported experiences rather than measuring clinical outcomes, and its findings derive from 39 patients and their parents interviewed at French reference centres; the authors position the resulting framework as a basis for future instrument development rather than a validated measure in itself. Even so, the study offers a detailed map of what patients and families say matters most, from pre-diagnosis anxiety and fear of early treatment to sibling jealousy, workplace exclusion, and the constant negotiation with unpredictability that defines life with an autoinflammatory disease.
Subject of Research: Quality of life in systemic autoinflammatory diseases assessed through multicenter qualitative patient interviews
Article Title: Quality of life in systemic autoinflammatory diseases: a multicenter qualitative study to inform the development of a disease-specific outcome measure
Article References: Lemoine, N., Hentgen, V., Georgin-Lavialle, S., Lachal, J., Bourque, C. J., Bouarour, S., Gagnon, R., Koné-Paut, I., & Piram, M. (2026). Quality of life in systemic autoinflammatory diseases: a multicenter qualitative study to inform the development of a disease-specific outcome measure. Arthritis Research & Therapy. https://doi.org/10.1186/s13075-026-03864-0
Image Credits: AI Generated
DOI: 10.1186/s13075-026-03864-0
Keywords: systemic autoinflammatory diseases, quality of life, FMF, MKD, TRAPS, CAPS, PFAPA, Still's disease, qualitative study, patient-reported outcomes, CEREMAIA, pediatric rheumatology
News Source: Ophelia Keating. (October 29, 2026). Interviews Reveal How Autoinflammatory Diseases Disrupt Quality of Life Across Ages. Scienmag.
