This leads to abnormal collagen fibers, with 7/8ths of the collagen produced being abnormal. Most vascular EDS patients have one ‘normal’ type III collagen gene (CO元A1) and one ‘abnormal’ (or mutated) type III collagen gene. Patients with haploinsufficiency vascular EDS have a different underlying cause of their vascular EDS. There also appears to be an increase in the relative frequency of muscle and tendon rupture, but these data have not been aggregated. 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.ĭistal joint contractures occur in a small proportion of individuals, these are progressive and can be disabling. Height varies through the normal range although small for family may be more common. Varicose veins may occur in early adult life.Īlthough 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.Īcrogeria, 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.īruising may increase with aspirin or non-steroidal anti-inflammatory medications and certain in the presence of anticoagulant treatment.Problems, such as bleeding or receding gums.Partial collapse of the lung called a pneumothorax.Joint contractures caused by shortening of the ligaments.Facial features, including a thin nose and lips, large eyes, small earlobes and fine hair.Premature ageing of the skin on hands and feet.Occasionally there may be other features present including: Fragile blood vessels (arteries) which can lead to major complications, including ruptures, dissections or aneurysms.There is also a risk of rupture of the spleen, or the uterus (womb) in pregnancy. Risk of hollow organ rupture, most commonly the large bowel.Thin skin which makes small blood vessels visible on the upper chest, and legs.Tendency to bruise very easily because blood vessels are more fragile.Individuals with vascular EDS may have the following features: What are the main signs and symptoms of vascular EDS? However, people with vascular EDS do have fragile connective tissues, as the condition is caused by faulty type III collagen. We know that day to day, many people with vascular EDS have no problems and live full and enjoyable lives.
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