Systemic autoinflammatory disease diagnoses in a single year from a UK national referral centre.

Key Findings

• ●306 patients referred to UK national SAID centre in 2022; 121 (39.5%) received a SAID diagnosis
• ●Median diagnostic delay for late-adult-onset SAIDs (including Schnitzler) was 6 years (IQR 2–8.5 years)
• ●Late-adult-onset SAIDs median age at diagnosis 65 years (IQR 57.75–74.25); predominantly new diagnoses
• ●Confirms significant underdiagnosis and delay for adult-onset autoinflammatory conditions
• ●Genetic testing with 24-gene NGS panel supported diagnosis in 49% of SAID patients

Referenced in (1 disease)