Vascular Ehlers-Danlos Syndrome

Also known as

  • Vascular EDS
  • EDS Type 4
  • Ehlers-Danlos Syndrome Type 4
  • VEDS

Vascular EDS is a serious condition that is associated with a risk of sudden death due to arterial or organ rupture at any age. The major risks for patients with vascular EDS are arterial (including aortic) dissection, rupture and aneurysm which accounts for the majority of deaths in vascular EDS.

Condition details

Vascular EDS is 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 this 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, particularly in blood vessels, hollow organs and the skin. Facial Characteristics: typically small features; thin lips, nose, mouth, narrow palate, deep-set or almond shaped eyes, lobeless ears, fine hair and thin translucent skin with veins and small blood vessels easily seen on chest, abdomen and thighs.

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Photos of affected individuals

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Typical age range of first manifestation

  • Can manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • COL3A1

Inheritance patterns

Is Autosomal dominant

Are carriers affected?

The major risks for patients with vascular EDS are spontaneous arterial (including aortic) dissection, rupture and aneurysm which accounts for the majority of deaths in vascular EDS.

How many are affected?

Varies between 1 in 50,000 and 1 in 100,000. In the UK less than 100 are registered on the EDS database and it is estimated 700 have Vascular EDS but not yet diagnosed.

Support groups and organisations

Mrs Sarah Griffin
Annabelle's Challenge
Wilby Close
Bury
Lancashire
BL8 1XU
United Kingdom
Tel 0161 207 8337
Facebook

Known experts

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