What is vascular EDS?

Vascular EDS

Friday 17 May, 2024

What is vascular EDS?

Vascular EDS is a life threatening connective tissue disorder that affects all tissues, arteries and internal organs making them extremely fragile, it is estimated to affect 1 in 90,000 people.

Patients are at risk of sudden arterial or organ rupture. Vascular EDS (previously known as Ehlers-Danlos type IV) is a rare type of Ehlers-Danlos syndrome caused by an alteration, also known as a mutation in the COL3A1 gene. 

COL3A1 gene is the instruction for making collagen type III a tough fibre-like protein that makes up a third of our body protein. When this gene is altered, it causes a lack or deficiency of this collagen making the connective tissue less effective, particularly in skin, lung, uterus, intestine and the vascular system. 

Vascular EDS can be very variable even within the same family. It is also rare and therefore many health professionals will not have seen someone with this diagnosis.

What causes vascular EDS?

Vascular EDS is a genetic condition caused by an alteration, also known as a mutation, in a gene called COL3A1. This gene is the instruction for making collagen type III. When the gene is altered it causes a lack or deficiency of this collagen. This leads to disordered packing of collagen fibres making the connective tissue less effective, particular in blood vessels, hollow organs and the skin.

The condition is characterised by aneurysms (a bulge in an artery), rupture of the bowel, and rupture of the womb during pregnancy. Managing and monitoring the condition improves outlook and requires specialists from different disciplines.

The evidence shows that patients with vascular EDS should avoid any invasive tests or invasive treatments unless strictly necessary. Invasive techniques that are routinely arranged for other patients could damage the fragile tissues and organs of someone with vascular EDS. Therefore, once the diagnosis is known, someone with vascular EDS is in a better position to receive appropriate medical care.

We know that day to day, many people with vascular EDS have no problems and live full and enjoyable lives. However, people with vascular EDS do have fragile connective tissues, as the condition is caused by faulty type III collagen.

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