Diagnosis and Management of Vascular EDS

Sheffield Study

Diagnosis and Management of Vascular Ehlers-Danlos syndrome: Experience of the UK National Diagnostic Service, Sheffield

Study Title

Diagnosis and Management of Vascular Ehlers-Danlos syndrome: Experience of the UK National Diagnostic Service, Sheffield

What was the study about?

The study described the experience of the specialist clinic in Sheffield, United Kingdom who see patients with vascular Ehlers Danlos Syndrome (vascular EDS). The team aimed to share their experience of vascular EDS patient care to aid medical professionals and patients worldwide. The data included 180 patients, seen over the last 12 years. This type of study is called a long-term observational study. Clinical features were reported, as well as results from annual MRI scans of the blood vessels. The researchers were able to evaluate groups of patients who were taking medication alongside those patients who were not taking medication.

Who participated in the study?

180 patients consented to participate in this study - 97 females and 83 males. This large patient group enabled data on clinical features, pregnancy and inheritance to be reviewed. The study also reports on the use of medications and the rate of vascular events in 126 patients. This group of patients were all over age 15, had previously been seen by the EDS service in Sheffield and reviewed annually following diagnosis. Everyone was given the same lifestyle and management advice. The medications used most often were losartan, an angiotensin II receptor blocker and bisoprolol, a beta blocker.

What were the results of the study?

Medication – The study showed that those patients 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.

Early diagnosis – The study reported on the clinical features of vascular EDS and how frequently the specific features are seen. The study also highlighted new features that should prompt genetics testing, as well as pointing out features that can present early, before increased vascular risks occur.

How has this study helped patients and medical professionals?

This study highlights the need for early diagnosis of vascular EDS. Early diagnosis enables appropriate medical management, with emergency information, lifestyle advice and cardiac medication. As a result, survival and quality of life for people with vascular EDS can be improved by making diagnoses at earlier ages. Researchers outlined clinical features of vascular EDS so that medical professionals can recognise them, request genetic testing, and identify those individuals who have this diagnosis sooner.

The study adds to the evidence for cardiac medication reducing vascular events for those with vascular EDS, with bisoprolol and losartan being used most frequently in this cohort. The paper also includes advice for medical professionals on emergency care, pregnancy management as well as treatment, providing a reference on vascular EDS for other health professionals.

Click here to find out more about this study.

Acknowledgements

The authors acknowledged all the patients in the study, as well as Ehlers-Danlos Support UK and Annabelle’s Challenge who provided funding for statistical analysis and open access publishing.