Jürgen Rech, Georg Schett, Abdurrahman Tufan, Jasmin B Kuemmerle-Deschner, Seza Özen, Koray Tascilar, Leonie Geck, Tobias Krickau, Ellen Cohen, Tatjana Welzel, Marcus Kuehn, Malena Vetterli
BACKGROUND: Autoinflammatory diseases (AIDs) are rare, mostly genetic diseases that affect the innate immune system and are associated with inflammatory symptoms. Both paediatric and adult patients face daily challenges related to their disease, diagnosis and subsequent treatment. For this reason, a survey was developed in collaboration between the FMF & AID Global Association and the Erlangen Center for Periodic Systemic Autoinflammatory Diseases. METHODS: The aim of the survey was to collect the personal assessment of affected patients with regard to their current status in terms of diagnostic timeframes, the interpretation of genetic tests, the number of misdiagnoses, and pain and fatigue despite treatment...
February 20, 2024: Journal of Clinical Medicine