VEDS Publications
Navigating Rare Disease in General Practice
Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood
Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients
Clare Sadgrove explains the fears she has living with vascular Ehlers-Danlos syndrome, and how opportunities to sit down with her clinical team created collaborative learning and built trust
A unique collaborative model providing supportive and self-advocacy tools
to the rare disease community
Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center
Reproductive decision-making and the utilization of preimplantation genetic testing among individuals with inherited aortic or vascular disease
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
An exemplary model of genetic counselling for highly specialised services
Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort
Evaluating perinatal and neonatal outcomes among children with vascular Ehlers–Danlos syndrome
Sara B. Stephens, Melissa Russo, Sherene Shalhub, Taylor Beecroft, Justin Weigand, Dianna M. Milewicz, Shaine A. Morris.
Published 20 August, 2022.
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network for Rare Vascular Diseases (VASCERN)
Rough endoplasmic reticulum expansion: a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta
Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross sectional study of patient experiences with physical activity
Heidi Johansen, Gry Velvin and Ingeborg Lidal.
Published 11 September, 2020.
Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model
Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations
Targetable cellular signalling events mediate vascular pathology in vascular Ehlers-Danlos syndrome
Clinical Updates: Ehlers-Danlos syndromes
Assessment of the information sources and interest in research collaboration among individuals with vascular Ehlers-Danlos syndrome
A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis
Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome
Arterial complications of vascular Ehlers-Danlos syndrome
Matthew J. Eagleton, MD
Published December 2016.
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes
Sherene Shalhub, MD, MPH, James H. Black III, MD, Alana C. Cecchi, MS, Zhi Xu, PhD, Ben F. Griswold, BS, Hazim J. Safi, MD, Dianna M. Milewicz, MD, PhD and Nazli B. McDonnell, MD, PhD
Published March 20, 2014.
Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial
Kim-Thanh Ong, Jérôme Perdu, Julie De Backer, Erwan Bozec, Patrick Collignon, Joseph Emmerich, Anne-Laure Fauret, Jean-Noël Fiessinger, Dominique P Germain, Gabriella Georgesco, Jean-Sebastien Hulot, Anne De Paepe, Henri Plauchu, Xavier Jeunemaitre, Stéphane Laurent, Pierre Boutouyrie.
Published 7 September, 2010.
Gastrointestinal
- Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers–Danlos syndrome
- Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome
- Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review
- Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review
Genetics
- Atypical COL3A1 variants (glutamic acid to lysine) causevascular Ehlers–Danlos syndrome with a consistentphenotype of tissue fragility and skin hyperextensibility
- Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)
- Next-generation sequencing and a novel COL3A1 mutation associated with vascular EDS with severe intestinal involvement: a case report
- Haploinsufficiency of the murine Col3a1 locus causes aortic dissection: a novel model of the vascular type of Ehlers–Danlos syndrome
- The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome
