The Ehlers-Danlos Syndrome National Diagnostic Service in Sheffield, UK, has published a new paper on vascular Ehlers-Danlos syndrome (vEDS) diagnosis and management, in the European Journal of Human Genetics:
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
Authors: Jessica M. Bowen, Monica Hernandez, Diana S. Johnson, Claire Green, Tammy Kammin, Duncan Baker, Sylvia Keigwin, Seiko Makino, Naomi Taylor, Oliver Watson, Nigel M. Wheeldon, and Glenda J. Sobey.
The researchers’ work shows fewer vascular events and improved survival in patients with vEDS who are on a medication strategy developed by the team, together with colleagues in the South Yorkshire Regional Inherited Cardiac Conditions Service. The medications used were primarily losartan, an angiotensin II receptor blocker, and bisoprolol, a beta blocker.
“Our retrospective data showed that those on a long-term angiotensin II receptor blocker and/or beta-blocker had fewer vascular events than those not on cardiac medication who received the same lifestyle and emergency care advice.”
The paper also details the clinical features of 180 patients with vEDS who were diagnosed and managed by the team, highlighting features to prompt early diagnosis, and including recommendations for emergency management and management of pregnancy in women and pregnant people with vEDS.
This study highlights the need for early diagnosis of vEDS. With early diagnosis, appropriate medical management, lifestyle advice, and medication we can improve survival and quality of life for people with vEDS.
Dr. Glenda Sobey, Head of the EDS National Diagnostic Service in Sheffield, explained: “We have been carefully managing vascular EDS patients for fourteen years. It has been very helpful to be able to show, through detailed statistical analysis together with our colleague at Sheffield University, School of Health, and Related Research (ScHARR), that our management strategy using drug repurposing has proven efficacy.”
The authors acknowledge all of the patients who participated in the study as well as Ehlers-Danlos Support UK and Annabelle’s Challenge who provided funding for statistical analysis and journal open access.
Lead author, Jess Bowen said: “A lot of work went into our recent publication on vascular EDS, from the whole team and our colleagues. It has been a big challenge, but to get evidence showing the benefit of treatment for this rare condition is very rewarding.”
The EDS National Diagnostic Service is a Highly Specialised Service of NHS England commissioned to see people with a diagnosis or suspected diagnosis of vascular, classical, and other genetically-defined types of EDS.
The full text of the study and supplementary materials can be found here.