Signs & Symptoms

We know that day to day, many people with vascular EDS have no problems and live full and enjoyable lives. However, people with vascular EDS do have fragile connective tissues, as the condition is caused by faulty type III collagen.

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What are the main signs and symptoms of vascular EDS?

Individuals with vascular EDS may have the following features:

Tendency to bruise very easily because blood vessels are more fragile.

Thin skin which makes small blood vessels visible on the upper chest, and legs.

Risk of hollow organ rupture, most commonly the large bowel. There is also a risk of rupture of the spleen, or the uterus (womb) in pregnancy.

Fragile blood vessels (arteries) which can lead to major complications, including ruptures, dissections or aneurysms.

Occasionally there may be other features present including:

Hypermobility of small joints. (i.e. fingers and toes).

Premature ageing of the skin on hands and feet.

Facial features, including a thin nose and lips, large eyes, small earlobes and fine hair.

Joint contractures caused by shortening of the ligaments.

Partial collapse of the lung called a pneumothorax.

Problems, such as bleeding or receding gums.

Varicose veins may occur in early adult life.

Wounds may take longer to heal.

Clubfoot.

Skin

Although thin skin with readily visible venous patterning is one of the typical features described in individuals with vascular EDS, it is often a subtle finding and bruising that is not explained by trauma is more common.

Acrogeria, is a cutaneous condition characterised by premature ageing, more especially in the form of unusually fragile, thin skin on the hands and feet, however this is uncommon in patients diagnosed with vascular EDS.

Bruising may increase with aspirin or non-steroidal anti-inflammatory medications and certain in the presence of anti-coagulant treatment.

Musculoskeletal

Height varies through the normal range although small for family may be more common. Congenital hip dislocation is increased as is congenital talipes and limb reduction defects (perhaps secondary to amputations by amniotic bands) when compared to the average population but these alone are generally insufficient to warrant diagnostic testing.

Distal joint contractures occur in a small proportion of individuals, these are progressive and can be disabling. There also appears to be an increase in the relative frequency of muscle and tendon rupture, but these data have not been aggregated.

COL3A1 Haploinsufficiency

Patients with haploinsufficiency vascular EDS have a different underlying cause of their vascular EDS. Most vascular EDS patients have one 'normal' type III collagen gene (COL3A1) and one 'abnormal' (or mutated) type III collagen gene.

This leads to abnormal collagen fibers, with 7/8ths of the collagen produced being abnormal. Haploinsufficiency vascular EDS is caused by having one 'normal' type III collagen gene and then one gene that does not produce any collagen. This is known as a 'null mutation'. Therefore, these patients only produce normal collagen, but in less quantity compared to a person unaffected by vascular EDS.

As a result, haploinsufficiency vascular EDS tends to have later onset of complications by almost 15 years and extended life expectancy compared to other vascular EDS patients.

Compared with individuals with missense or exon-skipping mutations, it was found that life span was extended, the age of first complication was delayed by almost 15 years, and major complications were limited to vascular events.

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Vascular EDS Diagnosis

In many people without a family history of the condition a diagnosis of vascular EDS is not considered until they present with a medical emergency such as dissection or rupture of an artery, an organ rupture (for example bowel or womb) or after the discovery of one or more aneurysms (a swelling in an artery).

There are other medical conditions with some of the same symptoms such as Marfan syndrome, Loeys-Dietz syndrome and SCAD therefore it is very important that a suspected diagnosis of vascular EDS is confirmed by a genetic test.

The gene associated with vascular EDS is called COL3A1 and an alteration in this gene is found in over 99% of people who have vascular EDS. In rare cases, genetic testing does not confirm the diagnosis and a skin biopsy to look at a piece of skin under the electron microscope can help clarify whether vascular EDS is the correct diagnosis.