Autoinflammatory syndromes mimicking Behçet's disease with gastrointestinal involvement: a retrospective analysis
Authors' conclusion
Identification of monogenic diseases and chromosomal abnormalities resembling BD underscores the imperative of precise diagnosis for tailored treatment and genetic counselling.
Study context
- Population
- Paediatric patients diagnosed with Behçet's disease (BD) (January 2016–December 2022) with gastrointestinal involvementof 50 paediatric BD patients
- Participants
- 24 patients
- Exposure
- Genetic-positive vs genetic-negative patients
- Genetic-positiven = 7
- Outcome
- Clinical characteristics and genetic findings
Methodological detailssingle-group descriptive, stratified by genetic results
- Single-group descriptive
- Stratified by genetic results
Main finding
As reported in the abstract
- Median age of disease onset (years)
- 4.0
- Recurrent oral ulcers
- 100%
- Gastrointestinal symptoms
- 83.3%
- Abdominal pain
- 70%
- Haematochezia
- 16.7%
- Initially met ICBD criteria
- 70.8%
- Fulfilled new paediatric classification criteria
- 41.6%
- Pathogenic variants among 18 patients with genetic analysis
- 7
- Chromosomal abnormalities such as trisomy 8 syndrome
- 2
Observational data: associations, not effects.
Further findings
Genetic-positive vs genetic-negative comparison
- Genetic-positive group: earlier disease onset, more atypical symptoms, heightened inflammatory markers and distinctive gastrointestinal lesions
Original publication
Autoinflammatory syndromes mimicking Behçet's disease with gastrointestinal involvement: a retrospective analysis. Clin Exp Rheumatol. Published 7 March 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →