Quality of life in systemic autoinflammatory diseases: a multicenter qualitative study to inform the development of a disease-specific outcome measure

Systemic autoinflammatory diseases (SAIDs) have an intermittent and often unpredictable clinical course that can significantly impair patients’ quality of life (QoL). While QoL is commonly assessed in chronic diseases, the specific impact of SAIDs and the aspects of health that matter most to patients and families remain insufficiently described. We aimed to identify key elements required to assess health-related quality of life (HRQoL) in adults and children affected by FMF, MKD, TRAPS, CAPS, PFAPA, and Still’s disease. We conducted a qualitative multicenter prospective study using a phenomenological approach. Individual semi-structured interviews were conducted at three sites of the French National Reference Centre for SAIDs (CEREMAIA). Interviews were carried out with parents for children < 6 years, with patients and parents separately for those aged 6–17 years, and with patients alone for adults. We analyzed 58 interviews involving 39 patients and their parents. Three main dimensions emerged: (1) Self: Patients described a substantial emotional burden, including anxiety before diagnosis, fear of innovative treatments initiated at very young ages, and frustration related to pain, physical limitations, and body changes. Pain was often invasive and overwhelming, and the unpredictable nature of flares required patients to learn to anticipate triggers and adjust daily activities. Ambivalence toward medical care was frequent, with gratitude for effective treatments but concerns about long-term effects. (2) Others: SAIDs deeply affected family dynamics, with sibling jealousy or overprotection, unequal distribution of parental attention, and episodes of strain within conjugal relationships. Patients and parents also faced a lack of understanding from relatives and peers, due to the often-invisible nature of SAIDs, sometimes leading patients to hide symptoms or avoid discussing the disease; (3) Society: 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. Our in-depth analysis shows that the QoL of patients with SAIDs was affected in multiple dimensions. These findings provide the conceptual foundation for developing SAID-specific, patient-reported outcome measures to better capture the lived experience of patients.