Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome
Por:
Felipe, DF, Casas-Alba, D, Sadok, SH, Fernández, MT, Vega-Hanna, L, Plaza, L, Villa, AV, Armstrong, J, Guillén-Navarro, E, Martínez-Monseny, AF
Publicada:
31 jul 2025
Resumen:
Diagnosing hypermobility disorders and Ehlers-Danlos syndrome (EDS) in children is challenging due to overlapping features with generalized joint hypermobility (GJH) and the lack of biomarkers. Background/Objectives: This study aims to describe the clinical and genetic features of pediatric EDS patients and identify key comorbidities and correlations. Methods: This is a single-center observational study of patients under 18 diagnosed with suspicion of EDS (2018-2024) at a tertiary pediatric hospital. Diagnoses were made using 2017 criteria. Results: Forty-one patients (46% female; mean age 11.1 +/- 2.8 years) were included. Based on 2017 criteria, 61% had hypermobile EDS (hEDS)/hypermobility spectrum disorder (HSD), 22% classical EDS, 7.3% vascular, and 9.7% other subtypes. Musculoskeletal (90.2%), cutaneous (68.3%), and psychiatric (56.1%) symptoms were most frequent. Significant associations included older age with psychiatric symptoms (p = 0.029), Beighton score with dislocations (p = 0.026), and less atrophic scarring in hEDS (p < 0.008). Genetic testing (73% performed) confirmed pathogenic variants (11 novel) in EDS with a known molecular cause. Conclusions: This study proposes a clinically guided approach and diagnostic algorithm for youth hypermobility, emphasizing precision medicine principles, while highlighting the urgent need for further research to identify hEDS biomarkers.
Filiaciones:
Felipe, DF:
Hosp St Joan de Deu, Pediat Dept, Barcelona 08950, Spain
Casas-Alba, D:
Hosp St Joan de Deu, Inst Recerca St Joan de Deu, Dept Med Genet, Barcelona 08950, Spain
Sadok, SH:
Hosp St Joan de Deu, Inst Recerca St Joan de Deu, Dept Med Genet, Barcelona 08950, Spain
Fernández, MT:
Hosp St Joan de Deu, Pediat Dept, Barcelona 08950, Spain
Vega-Hanna, L:
Hosp Santa Creu & Sant Pau, Dept Genet, Barcelona 08950, Spain
Plaza, L:
Hosp St Joan de Deu, Pediat Dept, Barcelona 08950, Spain
Villa, AV:
Hosp St Joan de Deu, Dept Dermatol, Barcelona 08950, Spain
Armstrong, J:
Hosp St Joan de Deu, Inst Recerca St Joan de Deu, Dept Genet & Mol Med, Genom Unit, Barcelona 08950, Spain
Ctr Invest Biomed Red Enfermedades Raras, CIBERER, Madrid 28029, Spain
Guillén-Navarro, E:
Hosp St Joan de Deu, Inst Recerca St Joan de Deu, Dept Med Genet, Barcelona 08950, Spain
Ctr Invest Biomed Red Enfermedades Raras, CIBERER, Madrid 28029, Spain
Martínez-Monseny, AF:
Hosp St Joan de Deu, Inst Recerca St Joan de Deu, Dept Med Genet, Barcelona 08950, Spain
Green Submitted, gold
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