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Autoinflammatory syndromes mimicking Behçet's disease with gastrointestinal involvement: a retrospective analysis
Qianying Lv1, Yifan Li1, Qijiao Wei1
1Department of Rheumatology, Children's Hospital of Fudan University, National Paediatric Medical Center of China, Shanghai, China.
Insights
Pediatric Behçet's disease (BD) with gastrointestinal issues often presents with ulcers and mimics other autoinflammatory syndromes. Genetic analysis reveals underlying monogenic diseases and chromosomal abnormalities, necessitating precise diagnosis for effective treatment.
Area of Science:
- Pediatric Rheumatology
- Gastroenterology
- Genetics
Background:
- Behçet's disease (BD) is a complex autoinflammatory condition that can affect multiple organ systems, including the gastrointestinal tract.
- Gastrointestinal involvement in pediatric BD presents unique diagnostic challenges and can overlap with other systemic inflammatory disorders.
Purpose of the Study:
- To investigate the clinical features and genetic underpinnings of gastrointestinal involvement in pediatric BD.
- To identify autoinflammatory syndromes that mimic BD in young patients.
Main Methods:
- Retrospective analysis of 50 pediatric BD patients (2016-2022), with a focus on 24 exhibiting gastrointestinal symptoms.
- Clinical data, laboratory results, endoscopic findings, and genetic testing were analyzed.
- Patients were stratified based on genetic findings for comparative analysis.
Main Results:
- Recurrent oral ulcers were universal (100%); gastrointestinal symptoms occurred in 83.3%, notably abdominal pain (70%).
- Endoscopic findings showed lesions primarily in the ileocecal region; genetic analysis in 18 patients identified pathogenic variants in 7, including ELF4 deficiency, A20 haploinsufficiency, Majeed syndrome, and trisomy 8.
- Genetic-positive patients had earlier onset, more atypical symptoms, heightened inflammatory markers, and distinct GI lesions.
Conclusions:
- Monogenic diseases and chromosomal abnormalities can mimic pediatric BD, highlighting the need for accurate diagnosis for targeted therapy and genetic counseling.
- Expanding genetic screening is crucial for a better understanding of the genetic basis of BD and related disorders.
Objectives:
This retrospective study aimed to investigate the clinical characteristics and genetic findings in paediatric patients with gastrointestinal involvement in Behçet's disease (BD), elucidating the spectrum of autoinflammatory syndromes mimicking BD in this young population.
Methods:
Fifty paediatric patients diagnosed with BD between January 2016 and December 2022, including 24 (48%) with gastrointestinal involvement, underwent comprehensive analysis. Clinical presentations, laboratory examinations, gastrointestinal endoscopy, and genetic tests were conducted, with patients stratified based on genetic results for rigorous comparative clinical analysis.
Results:
The cohort, with a median age of disease onset at 4.0 years, predominantly manifested with recurrent oral ulcers (100%). Gastrointestinal symptoms were prevalent in 83.3%, with abdominal pain (70%) and haematochezia (16.7%) being notable. Endoscopic evaluations unveiled lesions primarily in the terminal ileum and ileocecal region, with diverse ulcers across various anatomical sites. While 70.8% initially met ICBD criteria, only 41.6% fulfilled new paediatric classification criteria. Genetic analysis in 18 patients unveiled pathogenic variants in 7, with the genetic-positive group exhibiting earlier onset and more atypical symptoms. Noteworthy cases included X-linked deficiency in ELF4, A20 haploinsufficiency, and Majeed syndrome, with two cases revealing chromosomal abnormalities such as trisomy 8 syndrome. Comparative analysis underscored earlier disease onset, heightened inflammatory markers, and distinctive gastrointestinal lesions in the genetic-positive cohort.
Conclusions:
Identification of monogenic diseases and chromosomal abnormalities resembling BD underscores the imperative of precise diagnosis for tailored treatment and genetic counselling. Expanding genetic screening initiatives holds promise for enhancing our comprehension of the genetic landscape associated with BD.
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