The diagnosis of systemic autoinflammatory diseases (SAIDs) is frequently missed or delayed. The establishment of specialist clinics and the availability of genetic testing enables increased diagnosis of these disorders. We aimed to study the case mix and demographics of patients referred to a UK national centre for primarily adult SAID. The medical records of all new patients seen in 2022 were reviewed. Genetic testing either involved a next-generation sequencing (NGS) panel of 24 SAID-related genes, or Sanger sequencing of individual genes. Of 306 patients, 121 (39.5%) were diagnosed with SAID. Of the patients with SAID, 59% were male, 79% were new diagnoses, and 21% had transitioned from paediatric care. The new-diagnosis group were primarily adults and included patients with SAIDs with known late-adult onset. Fifty-nine of the patients with SAID (49%) had genetic results supportive of monogenic disease. The most frequent diagnoses were FMF (31%), idiopathic recurrent pericarditis (14%), and undifferentiated SAID (11%). The median age at diagnosis was 7 years [interquartile range (IQR) 3.75-12.5] for transition patients, 35 years (IQR 22-45.75) for newly diagnosed patients, and 65 years (IQR 57.75-74.25) for newly diagnosed late-adult-onset SAIDs. The median diagnostic delay was 2 years (IQR 0-5.5) in transition SAID, 4.5 years (IQR 1-12.75) in new diagnoses, and 6 years (IQR 2-8.5) in late-onset SAID. The clinic sees a clinically important number and range of SAID diagnoses in a primarily adult population. SAID diagnosis remains challenging, and it was found that there were significant diagnostic delays.
Vanoni F, Federici S, AntĂłn J, Barron KS, Brogan P , et al.
Pediatric rheumatology online journal •
Diagnosis of Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is currently based on a set of criteria proposed in 1999 modified from Marshall's criteria. Nevertheless no validated evidence based set of classification criteria for PFAPA has been established so far. The aim of this study was to identify candidate classification criteria PFAPA syndrome using international consensus formation through a Delphi questionnaire survey. A first open-ended questionnaire was sent to adult and pediatric clinicians/researchers, asking to identify the variables thought most likely to be helpful and relevant for the diagnosis of PFAPA. In a second survey, respondents were asked to select, from the list of variables coming from the first survey, the 10 features that they felt were most important, and to rank them in descending order from most important to least important. The response rate to the first and second Delphi was respectively 109/124 (88%) and 141/162 (87%). The number of participants that completed the first and second Delphi was 69/124 (56%) and 110/162 (68%). From the first Delphi we obtained a list of 92 variables, of which 62 were selected in the second Delphi. Variables reaching the top five position of the rank were regular periodicity, aphthous stomatitis, response to corticosteroids, cervical adenitis, and well-being between flares. Our process led to identification of features that were felt to be the most important as candidate classification criteria for PFAPA by a large sample of international rheumatologists. The performance of these items will be tested further in the next phase of the study, through analysis of real patient data.
