Diagnosis and Management of Vascular Ehlers-Danlos Syndrome: Experience of the UK National Diagnostic Service, Sheffield
March 2023
in “
European Journal of Human Genetics
”
vascular Ehlers-Danlos syndrome vEDS connective tissue disorder vascular events bowel perforation losartan bisoprolol clinical progression score early diagnosis lifestyle advice imaging surveillance phenotypic spectrum easy bruising severe talipes premature birth amniotic band sequence distal contractures pneumothorax early onset varicose veins vascular EDS Cozaar Zebeta clubfoot collapsed lung
Studysummary This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
Over a 12-year period, the UK EDS National Diagnostic Service diagnosed and managed over 200 patients with vascular Ehlers-Danlos syndrome (vEDS), a rare connective tissue disorder. The study found that 40% of these patients experienced 165 vascular events, and 13.88% had bowel perforation. In terms of pregnancy, 10% of women had a life-threatening or fatal vascular event. The study also found that patients on a combination of losartan and bisoprolol had a significantly lower clinical progression score, suggesting a reduction in vascular events from this therapy. Survival in the treated group was 93.3% over a median of 4.67 years. The study emphasizes the importance of early diagnosis, lifestyle advice, and regular imaging surveillance for managing vEDS. The phenotypic spectrum of vEDS is broader than previously recognized, with early clinical signs such as significant easy bruising, severe talipes, premature birth, amniotic band sequence, distal contractures, pneumothorax, and early onset varicose veins. The study underscores the role of specialist services in managing vEDS and the need for early diagnosis for improved survival and quality of life.
