{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T00:26:20Z","timestamp":1789259180088,"version":"build-2803163510"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T00:00:00Z","timestamp":1735257600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T00:00:00Z","timestamp":1735257600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000761","name":"Imperial College London","doi-asserted-by":"publisher","award":["P89680-1"],"award-info":[{"award-number":["P89680-1"]}],"id":[{"id":"10.13039\/501100000761","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic <jats:italic>COL3A1<\/jats:italic> 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 (&lt;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\u201313) and genetic testing was initiated as a direct result of the first event in 11\/13 cases. In the cohort majority, diagnosis was the result of familial genetic testing (55%). Our findings emphasise the importance of offering genetic testing in childhood when there is a positive family history of vEDS and\/or features suggestive of a potential inherited connective tissue disorder. Diagnosis in childhood allows for follow-up surveillance and informed multi-disciplinary management, in addition to genetic counselling and patient-led management including lifestyle modification. As seen in adult cohorts, we anticipate children with vEDS will experience the same protective benefit afforded by early diagnosis and present preliminary data on follow-up in childhood. Formal evaluation of the impact that diagnosis of vEDS in childhood has on disease management is needed when sufficient data is internationally available.<\/jats:p>","DOI":"10.1038\/s41431-024-01773-x","type":"journal-article","created":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T17:59:12Z","timestamp":1735322352000},"page":"368-376","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood"],"prefix":"10.1038","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1056-2098","authenticated-orcid":false,"given":"Niamh R.","family":"Wilkinson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2612-1014","authenticated-orcid":false,"given":"Elena","family":"Cervi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1244-3063","authenticated-orcid":false,"given":"Bart","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7780-4707","authenticated-orcid":false,"given":"Deborah","family":"Morris-Rosendahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duncan","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harpaul","family":"Flora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"von Klemperer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toby","family":"Andrew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2847-1376","authenticated-orcid":false,"given":"Neeti","family":"Ghali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6341-169X","authenticated-orcid":false,"given":"Fleur S.","family":"van Dijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,27]]},"reference":[{"key":"1773_CR1","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/ajmg.c.31552","volume":"175","author":"F Malfait","year":"2017","unstructured":"Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J. et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175:8\u201326.","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"1773_CR2","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1002\/humu.20455","volume":"28","author":"F Malfait","year":"2007","unstructured":"Malfait F, Symoens S, De Backer J, Hermanns-L\u00ea T, Sakalihasan N, Lapi\u00e8re CM. et al. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat. 2007;28:387\u201395.","journal-title":"Hum Mutat"},{"key":"1773_CR3","doi-asserted-by":"crossref","unstructured":"Omar R, Malfait F, Van Agtmael T. Four decades in the making: collagen III and mechanisms of vascular Ehlers Danlos Syndrome. Matrix Biol. 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All data was anonymised. Ethical approval was obtained for the NEEDS study from the Newcastle and North Tyneside Research Ethics Committee.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}}]}}