Autoinflammatory & rare systemic diseases
Systemic autoinflammatory disease diagnoses in a single year from a UK national referral centre
Authors' conclusion
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.
Study context
- Population
- All new patients seen in 2022 at a UK national referral centre for primarily adult systemic autoinflammatory disease (SAID)121 with SAID
- Participants
- 306 participants
- Exposure
- Transition vs New diagnoses vs Late-adult-onset
- Outcome
- Case mix and demographics of referred patients
Methodological detailssingle-centre, medical records review, Genetic testing: Next-generation sequencing (NGS) panel of 24 SAID-related genes or Sanger sequencing of individual genes
- Single-centre
- Medical records review
- Genetic testing: NGS panel of 24 SAID-related genes or Sanger sequencing of individual genes
Main finding
As reported in the abstract
SAID diagnosis
- Diagnosed with SAID
- 121 (39.5%)
- Male, among SAID
- 59%
- New diagnoses, among SAID
- 79%
- Transitioned from paediatric care, among SAID
- 21%
- Genetic results supportive of monogenic disease
- 59 (49%)
- FMF
- 31%
- Idiopathic recurrent pericarditis
- 14%
- Undifferentiated SAID
- 11%
Observational data: associations, not effects.
Further findings
Age at diagnosis
Diagnostic delay
Original publication
Systemic autoinflammatory disease diagnoses in a single year from a UK national referral centre. Rheumatology (Oxford). Published 24 March 2025. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →