Claire Green1, Neeti Ghali2, Glenda Sobey3, Fleur S van Dijk4, Rhoda Akilapa2, Chloe Angwin2, Duncan Baker5, Marion Bartlett2, Jessica Bowen1, Angela F Brady2, Joanna Brock5, Erin Chamberlain6, Harveer Cheema5, Vivienne McConnell7, Renarta Crookes5, Hanadi Kazkaz8, Diana Johnson1, F Michael Pope9, Anthony Vandersteen6. 1. National Ehlers Danlos Syndrome Service, Sheffield Children's Hospital, Sheffield, UK. 2. National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, UK. 3. National Ehlers Danlos Syndrome Service, Sheffield Children's Hospital, Sheffield, UK. glenda.sobey@nhs.net. 4. National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, Harrow, London, UK. fleur.dijk@nhs.net. 5. Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. 6. Maritime Medical Genetics Service, IWK Health Centre, Halifax, NS, Canada. 7. Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast, UK. 8. Rheumatology Department, University College Hospital, London, UK. 9. Department of Dermatology, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK.
Abstract
PURPOSE: Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to enable improved management of this rare genetic disorder. METHODS: Patients diagnosed with clEDS by the national EDS service in the UK (n = 21) and abroad (n = 1) were asked for consent for publication of their clinical and molecular data. RESULTS: Of 22 patients, 20 consented. All patients had typical features of clEDS: joint hypermobility, easy bruising, and skin hyperextensibility without atrophic scars. Importantly, 3/20 patients experienced gastrointestinal complications consisting of small or large bowel ruptures and one esophageal rupture. Other notable observations included two separate occurrences of spontaneous compartment syndrome, suspicion of nonaccidental injury due to significant bruising, and significant clinical variability regarding the debilitating effect of joint dislocations. CONCLUSIONS: We propose a predisposition to tissue fragility, particularly of the gastrointestinal tract in patients with clEDS. As such, clinical and molecular confirmation of this diagnosis is essential. It is recommended to follow up these patients closely to understand the natural history to develop better recommendations for management.
PURPOSE: Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to enable improved management of this rare genetic disorder. METHODS: Patients diagnosed with clEDS by the national EDS service in the UK (n = 21) and abroad (n = 1) were asked for consent for publication of their clinical and molecular data. RESULTS: Of 22 patients, 20 consented. All patients had typical features of clEDS: joint hypermobility, easy bruising, and skin hyperextensibility without atrophic scars. Importantly, 3/20 patients experienced gastrointestinal complications consisting of small or large bowel ruptures and one esophageal rupture. Other notable observations included two separate occurrences of spontaneous compartment syndrome, suspicion of nonaccidental injury due to significant bruising, and significant clinical variability regarding the debilitating effect of joint dislocations. CONCLUSIONS: We propose a predisposition to tissue fragility, particularly of the gastrointestinal tract in patients with clEDS. As such, clinical and molecular confirmation of this diagnosis is essential. It is recommended to follow up these patients closely to understand the natural history to develop better recommendations for management.
Authors: A C T M Peeters; M Kucharekova; J Timmermans; F W P J van den Berkmortel; G H J Boers; I R O Nováková; D Egging; M den Heijer; J Schalkwijk Journal: Neth J Med Date: 2004-05 Impact factor: 1.422