Living with a systemic autoinflammatory disease: burden of disease and effects on quality of life—an international patient survey

Systemic autoinflammatory diseases (SAIDs) significantly impact patients’ and their families’ quality of life (QoL). This international study aimed to evaluate the extent of this burden by gathering patient-reported data on their SAIDs and its effects on daily living and well-being. A 24-question online survey, developed by the Autoinflammatory Alliance and KAISZ/VAISZ in English and Dutch, was distributed internationally from 2017 to 2018. The survey included both closed-ended and open-ended questions addressing the SAID diagnosis and perceived impact on QoL. Participants were recruited through online social media platforms, and responses were collected using convenience sampling. A total of 371 responses were received. Most respondents were from the United States (64%). The most common diagnoses were undifferentiated SAIDs (24%); periodic fever, aphthous stomatitis, pharyngitis, adenitis (19%); and cryopyrin-associated periodic syndrome (12%). Participants saw an average of 6.5 doctors before diagnosis, with 7% seeing over 20 doctors. Common symptoms included headaches (94%), fatigue (86%), pain (80%), and fever (79%). Assessment of QoL revealed an average score of 61 of the 100 between flares, which dropped to 18 of the 100 during flares. Daily activities were severely limited during flares for 52.5% of participants; 81% of participants reported that SAIDs impacted their work, career, or education. This study highlights the profound impact of SAIDs on QoL, emphasising the need for ongoing research and improved care for these rare conditions. Early diagnosis, targeted treatment, and psychosocial support can help mitigate the burden of these diseases.