06/29/2024
https://www.facebook.com/share/p/QsLFo7LCS6VsNDBY/?mibextid=WC7FNe
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.
Blood vessel dissection and rupture as well as hollow organ rupture are potentially fatal consequences of vascular EDS. Evidence suggests that having a correct diagnosis made, with appropriate clinical management and long-term follow-up improves survival for vascular EDS patients.
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 live full and enjoyable lives, outcomes are improved by early diagnosis followed by appropriate management.
