Vascular Ehlers-Danlos syndrome: A multidisciplinary clinical framework for early suspicion, emergency-safe management and lifelong care.

Authors

Salvatore Corrao, Maria Irene Ruggeri, Antonino Di Benedetto, Giacomo Corrao, Luigi Calvo, Salvatore Scibetta

Published in

Journal of internal medicine. Sep 25, 2026. Epub Sep 25, 2026.

Abstract

Vascular Ehlers-Danlos syndrome (vEDS), caused by likely pathogenic COL3A1 variants, carries a high risk of arterial dissection or rupture, intestinal perforation and uterine rupture, and a median survival near 51 years. It is often recognized only at a catastrophe, and its acute management is deliberately counter-intuitive. The therapeutic landscape changed in 2025 with the first randomized evidence for an angiotensin-receptor blocker. We provide a clinical, practice-oriented review for internists and the multidisciplinary team. As is appropriate for a rare disease, case-level evidence was considered alongside cohorts and trials. Suspicion is the rate-limiting step, and we set out speciality-specific red flags. Diagnosis requires molecular confirmation, with differentiation from other heritable arteriopathies. Genotype is a probabilistic predisposition, not a deterministic predictor: there is ascertainment bias, reduced penetrance and intrafamilial variability temper inference. Emergency care is harm-avoidant-catheter angiography, elective endoscopy and unnecessary surgery should be avoided, and endovascular and tissue-sparing techniques preferred. Pharmacological prevention rests on celiprolol, with randomized evidence now supporting irbesartan added to background celiprolol, and expert-centred consideration of angiotensin-receptor blockade when celiprolol is not tolerated. Surveillance should be individualized along the European Reference Network on Rare Multisystemic Vascular Diseases logic. Pregnancy, psychosocial care and cascade testing complete lifelong management. In vEDS, earlier recognition and the avoidance of iatrogenic harm-not new molecules-offer the largest near-term gains in survival and quality of life.

PMID:
42798186
Bibliographic data and abstract were imported from PubMed on 26 Sep 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.