Metabolic VEDS Research Study
Understanding the effect of vascular EDS on metabolism and diabetes risk.
Objective
To determine whether adults with genetically confirmed vEDS exhibit alterations in fat distribution, insulin sensitivity, and metabolic biomarkers compared with matched controls.
This research study will investigate whether people with vascular Ehlers–Danlos syndrome (vEDS), a rare inherited condition, have problems with the way their body stores and uses fat (adipose tissue). vEDS is caused by changes in a gene called COL3A1, which makes a protein important for the structure of many tissues. While vEDS is best known for making blood vessels fragile, there is some early evidence that it may also affect fat tissue and increase the risk of problems such as insulin resistance (where the body does not respond properly to insulin) and diabetes.
Fat tissue is important for keeping the body healthy. It stores extra energy, but it also sends signals to other organs. If fat tissue cannot expand or work properly, fat can build up in the liver or muscles instead, leading to high blood sugar, high cholesterol, and greater risk of diabetes and heart disease. In this study, we will invite 15 adults with genetically confirmed vEDS to take part, along with a group of age-, sex-, and weight-matched controls without vEDS.
Participants will attend a research visit at Addenbrooke’s Hospital, Cambridge. They will have measurements of body fat distribution (using a DEXA scan), a liver scan, blood tests, and a standard oral glucose tolerance test (drinking a sugary drink with blood samples before and after). Some participants may also choose to provide a small fat biopsy under local anaesthetic to allow more detailed analysis of tissue structure. The main aim is to see whether people with vEDS show changes in fat distribution and how their body handles insulin compared to those without vEDS.
This research study will be overseen by Professor Sir Stephen O’Rahilly who is a world expert in diabetes, obesity, and metabolic health at the Institute of Metabolic Science, University of Cambridge.
Methods
In this cross-sectional study, 15 adults with vEDS and age-, sex- and BMI-matched controls will undergo detailed clinical phenotyping at Addenbrooke’s Hospital, Cambridge. Assessments include body composition by DXA, liver stiffness and steatosis by transient elastography, oral glucose tolerance testing with serial free fatty acid and insulin measurements, anthropometry, clinical biochemistry, and lifestyle questionnaires. Optional abdominal subcutaneous adipose tissue biopsy will enable analysis of adipocyte structure and molecular signatures.
Eligibility
To participate in this study you must be genetically confirmed vascular Ehlers-Danlos syndrome (vEDS) and you are between 18-85 years old.
