VASCULAR EDS

Vascular EDS is a life threatening connective tissue disorder that affects all tissues, arteries and internal organs making them extremely fragile.

 

The initial diagnosis is usually suspected on the basis of family history, or a clinical history of arterial rupture, dissection or aneurysm, rupture of the large intestine, or pregnancy complications at young ages.

 

Because of clinical overlap with some forms of Loeys-Dietz syndrome, Marfans syndrome and dissection syndromes, the diagnosis should be confirmed by identification of pathogenic variants in COL3A1 to allow for appropriate surveillance, treatment, and family studies. Type III collagen is a major protein in the walls of blood vessels and hollow organs, which explains increased bruising, arterial and bowel fragility, and unterine, cervical and vaginal fragility during pregnancy and delivery.

Fortunately vascular EDS is an uncommon genetic disorder and it is estimated to account for less than 5% of the EDS community, it is considered the most severe due to the risk of life threatening vascular ruptures.

 

In some reports, up to 70% of cases are diagnosed due to vascular rupture or dissection, gastrointestinal perforation, or organ rupture is a presenting sign.

 

The clinical features are variable but a number of characteristics can be identified to enable a diagnosis.

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Skin involvement

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.

 

The skin is thinned to about a half to one third of normal thickness resulting in being translucent. This results in the underlying blood vessels being clearly visible, especially over the chest and extremities. In some individuals these changes are more pronounced over the hands and feet, giving the appearance of premature ageing (acrogeria).

 

In addition, wounds heal abnormally slowly resulting in thin scars. The scars may become deeply pigmented giving rise to brown discolouration.

Easy bruising

The most common presentation in childhood is easy bruising that may be accompanied by striking skin lucency and vascular visibility. There may be excessive bleeding with circumcision.

 

In some instances, childhood bruising has been sufficient to raise the question of abuse. Child protection agencies may have been or could be involved due to this prominent feature. 

Elastosis perforans serpiginosa (EPS), which presents as a red circular rash usually around the face, neck and upper body, is more common in vascular EDS than other types. It is not harmful and consists of microscopic fragments of elastic fibres which are 'extruded' through the skin. It is not fully understood why this happens but it also occurs in other inherited connective tissue disorders. Treatment is, in general, unsatisfactory.

 

Facial features

Some individuals have the typical facial appearance (facies) which is characterised by a thin pinched nose, thin lips, prominent protruding eyes, hollow cheeks, small chin, lobeless ears and thinning of scalp hair. Some of these features can be rather subtle, particularly in children.

 

Joint hypermobility

In vascular EDS this is usually limited to the small joints of the hands and feet. 

 

Laxity, double-jointedness is not very marked in vascular EDS. If present, if joint laxity affects the ankles some babies may be born with club feet.

 

Other features 

Varicose veins may appear in early adult life and can be an early clue to the diagnosis. 

 

Vascular EDS in Children

In children, the features most commonly identified as the reason for testing are family history, easy bruising, thin skin and club foot.

 

Infants with the condition may be born with;

  • Hip dislocations
  • Clubfoot, which causes the foot to turn inward and downward

In childhood, also may see inguinal hernia, pneumothorax, and recurrent joint subluxation or dislocation can occur.

Complications in children with vascular EDS

It is the same as adults, but less common;

  • Aneurysms (anywhere)
  • Dissection and rupture of vessels
  • Less common intestinal and uterine rupture
  • Lung collapse
  • Groin hernias
  • Joint dislocations

What causes vascular EDS?

Vascular EDS is a genetic condition 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.

 

How is vascular EDS inherited?

Our bodies are made up of millions of cells and inside almost every cell is a complete set of our genetic material. Genes are the unique instructions which make us each individual. There are many thousands of genes, each carrying a different instruction. We have two copies of each gene. One copy of each pair is inherited from our mother, in the egg, and the other from our father, in the sperm.

 

People diagnosed with vascular EDS will have an alteration in one copy of the COL3A1 gene. The inheritance pattern for this is called autosomal dominant inheritance, because the altered copy of the gene is dominant over the other copy. Autosomal means it can affect, and be passed on by, both males and females.

 

When someone with this condition has children, they will pass on one copy of their COL3A1 gene to each child, either their altered or unaltered gene. So in each pregnancy, there is a 50% (1 in 2) chance of a child inheriting the altered copy of the gene and having vascular EDS. Equally, there is a 50% (1 in 2) chance of a child getting the unaltered copy of the gene and not inheriting the condition.

 

The gene alteration can happen for the first time in an individual, so there may be no previously affected family members.

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