P277: Underrecognized late-onset forms of vascular Ehlers–Danlos syndrome: Insights from a community hospital case series
Abstract
Vascular Ehlers Danlos Syndrome (vEDS) is a severe, autosomal dominant form of Ehlers Danlos Syndrome (EDS) caused by variants in the COL3A1 gene. vEDS is characterized by tissue fragility and increases the risk of major clinical complications such as aortic dissections, colonic perforations, and uterine ruptures, leading to reduced lifespan. There are known genotype–phenotype correlations in COL3A1 with loss-of-function variants leading to delayed disease onset, yet milder or late-onset presentations of vascular Ehlers–Danlos syndrome remain underrecognized.
Fields of Study & Subjects
Connective tissue disorders research
Dermatological and Skeletal Disorders
Cerebrovascular and genetic disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103771–103771
- Publication date
- 1 January 2026
- Language
- EN