Ehlers-Danlos syndrome, vascular type (EDSVASC)

What is Ehlers-Danlos syndrome, vascular type (EDSVASC)?

This rare disease is an inherited connective tissue disorder, widely considered to be the most severe form of Ehlers-Danos.

It affects various parts of the body and particularly the vascular system.

What gene changes cause Ehlers-Danlos syndrome, vascular type (EDSVASC)?

Changes in the COL3A1 are responsible for the syndrome. Rarely mutations to the COL1A1 gene might also be the cause of the condition.

It is inherited in an autosomal dominant pattern. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Ehlers-Danlos syndrome, vascular type (EDSVASC)?

Physical features of the syndrome include thin, translucent skin and easy bruising. Thin lips, a small chin and large eyes are also characteristic of the condition.

Symptoms might also include premature ageing of the skin on the hands and feet, and early-onset varicose veins.

The most serious symptoms of the syndrome are associated with the fragile arteries, muscles and internal organs of individuals with the disease. These are caused by defects in the production of collagen, an essential protein, triggered by mutations in the genes responsible for this syndrome.

How does someone get tested for Ehlers-Danlos syndrome, vascular type (EDSVASC)?

The initial testing for Ehlers-Danlos syndrome, vascular type can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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