Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

ABSTRACT:

Background

Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in COL3A1. The aim of this cohort study is to provide further insights into the natural history of vEDS and describe genotype-phenotype correlations in a Dutch multicenter cohort to optimize patient care and increase awareness of the disease.

Methods

Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination.

Results

A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at gen

SUBMITTER: Demirdas S 

PROVIDER: S-EPMC11188628 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature