INTRODUCTION
Vascular Ehlers-Danlos Syndrome (vEDS) is an autosomal-dominant inherited disorder result on collagen type III alpha-1 chain (COL3A1) gene mutation[1]. vEDS is commonly considered the most severe subtype of Ehlers-Danlos Syndrome (EDS) and is associated with a reduced life expectancy due to spontaneous arterial, intestinal, or uterine rupture. Some patients presented with thin skin cuticles, easy bruising, and increased brittleness of connective tissue of hollow organ wall. The diagnosis of vEDS is relays on confirming the pathogenic variations in COL3A1by genetic testing[2].
COL3A1 is located on the long arm of chromosome 2 and is about 38 kb long. COL3A1 encodes the alpha 1 chain of type III collagen, also known as Collagen alpha-1(III) chain in humans. Type III collagen, an extracellular matrix (ECM) protein, is synthesized by cells as a pre-procollagen. It is found a significant structural component in hollow organs such as large blood vessels, uterus and bowel[3]. The alterations in content and properties of type III collagen, can lead to organ fragility. Mutations in theCOL3A1 gene cause the vascular type of Ehlers-Danlos syndrome. Patients with vEDS have decreased type III pro-collagen[4]. The content of type III collagen accounts for about 5-20% among of the total collagen content of the human body. The reduction of type III collagen will lead to the loss of structural integrity of tissue, which directly leads to tissue brittleness and vascular endothelial dysfunction [5,6].