Study of Metabolism and Fat Tissue in Adults With Vascular Ehlers-Danlos Syndrome vEDS Compared to Similar Adults Without vEDS

What this Trial Is About

Researchers are studying people with vascular Ehlers-Danlos syndrome vEDS, a rare inherited condition caused by changes in the COL3A1 gene. This condition is known for making blood vessels fragile, but early evidence suggests it may also affect how the body stores and uses fat. The study aims to understand whether individuals with vEDS have differences in fat distribution and insulin sensitivity compared to those without the condition. The study involves adults with genetically confirmed vEDS and a control group matched for age, gender, ethnicity, and body weight. Participants will have body fat measurements using DEXA scans, liver scans, blood tests, and an oral glucose tolerance test where blood samples are taken before and after drinking a sugary drink. Some participants may also choose to provide a small fat tissue sample under local anesthesia for more detailed analysis. Participants will attend a research visit at Addenbrookes Hospital. Researchers will assess body fat distribution and insulin sensitivity using tests like the OGTT-derived free fatty acid suppression test. They will also examine biomarkers related to fat tissue and metabolism. The study plans to follow participants and analyze results over three years to better understand metabolic changes in vEDS.

Metabolic Phenotyping in vEDS