biostudies-literatureWilkinson NRImperial College London368-376https://www.ebi.ac.uk/biostudies/studies/S-EPMC11893879biostudies-literatureUnknown33(3)Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this. Patients were identified through the National Ehlers-Danlos Syndrome (EDS) Service London. We report on 18 events in childhood, recorded in 13 individuals. First events occurred at a median age of 11 years (IQR 0-13) and genetic testing was initiated as European journal of human genetics : EJHGVascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.PMC11893879P89680-1Cervi EGhali NFlora HWagner BMorris-Rosendahl Dvon Klemperer KAndrew TBaker Dvan Dijk FSWilkinson NRfalseVascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this. Patients were identified through the National Ehlers-Danlos Syndrome (EDS) Service London. We report on 18 events in childhood, recorded in 13 individuals. First events occurred at a median age of 11 years (IQR 0-13) and genetic testing was initiated as 2025-01-01T00:00:00Z2025 Mar2026-06-02T00:01:02.433Z2025-04-04T13:11:39.685ZS-EPMC118938793973091610.1038/s41431-024-01773-x