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].