Clinical heterogeneity and five phenotypes identified in pediatric Behçet's syndrome: a cohort study from Shanghai Behçet's syndrome database

Dan Hu; Chun-Hui She; Hua-Fang Bao; Jun Zou; Jian-Fei Cai; Jing-Fen Ye; Yan Shen; Hai-Fen Ma; Dan Luo; Jian-Long Guan

doi:10.1007/s12519-023-00785-9

Clinical heterogeneity and five phenotypes identified in pediatric Behçet's syndrome: a cohort study from Shanghai Behçet's syndrome database

World J Pediatr. 2024 Feb 5. doi: 10.1007/s12519-023-00785-9. Online ahead of print.

Authors

Dan Hu¹, Chun-Hui She¹, Hua-Fang Bao¹, Jun Zou¹, Jian-Fei Cai¹, Jing-Fen Ye¹, Yan Shen¹, Hai-Fen Ma¹, Dan Luo¹, Jian-Long Guan²

Affiliations

¹ Department of Rheumatology and Immunology, Huadong Hospital Affiliated to Fudan University, 221 Yan'an West Road, 200040, Shanghai, China.
² Department of Rheumatology and Immunology, Huadong Hospital Affiliated to Fudan University, 221 Yan'an West Road, 200040, Shanghai, China. jianlong_guan@126.com.

PMID: 38315355
DOI: 10.1007/s12519-023-00785-9

Abstract

Objectives: Behçet's syndrome (BS) is a rare disease of unknown etiology, with limited reports especially in pediatric BS. The clinical characteristics and phenotypes of pediatric BS as a highly heterogeneous variable vessel vasculitis were investigated in this study.

Methods: A cross-sectional study was conducted to compare clinical variables and descriptive characteristics of BS by age of onset and gender. Cluster analysis was then performed to identify the phenotypes of pediatric BS.

Results: A total of 2082 BS patients were included in this study, 1834 adults and 248 children. Compared with adult-onset BS, pediatric BS had a higher incidence of folliculitis [relative risks (RR) and 95% confidence interval (CI) 1.3 (1.0-1.5)], uveitis of the left eye [RR and 95% CI 2.3 (1.0-5.0)], intestinal ulcer complications [RR and 95% CI 2.1 (1.1-4.2)], pericarditis [RR and 95% CI 2.5 (1.0-6.2)], and psychiatric disorders [RR and 95% CI 2.8(1.0-7.9)], while the incidence of thrombocytopenia was lower [RR 0.2 (0.1-1.0)]. Among pediatric BS, females had more genital ulcers, while males were more likely to have skin lesions, panuveitis, vascular involvement, venous lesions, cardiac involvement, and aortic aneurysms. Cluster analysis classified pediatric BS into five clusters (C1-C5): C1 (n = 61, 24.6%) showed gastrointestinal (GI) involvement; C2 (n = 44, 17.7%) was the central nervous system (CNS) type where 23 cases overlapped joint involvement; in C3 (n = 35, 14.1%), all patients presented with arthritis or arthralgia; all patients in C4 (n = 29, 11.7%) manifested ocular involvement, with a few patients overlapping with GI involvement or joint damage; C5 (n = 79, 31.9%) was the mucocutaneous type, presenting both oral ulcers, genital ulcers, and skin lesions.

Conclusions: The clinical features of pediatric and adult BS differ significantly. Male and female pediatric BS also have a distinct demography. Five phenotypes including GI, CNS, joint, ocular, and mucocutaneous types were identified for pediatric BS.

Keywords: Behçet’s syndrome; Clinical manifestation; Cluster analysis; Pediatric; Phenotype.

Abstract

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