Vascular Type

Vascular Type is generally regarded as the most serious form of EDS due to the possibility of arterial or organ rupture. The skin is usually thin and translucent with veins being seen through the skin, which is most apparent over the chest and abdomen. There are certain facial characteristics present in some affected individuals. These manifestations include large eyes, thin nose, lobeless ears, short stature and thin scalp hair. Also evident is a decrease in subcutaneous tissue, particularly in the face and extremities. Minor trauma can lead to extensive bruising.

Arterial/intestinal/uterine fragility or rupture commonly arise in this type of EDS. Spontaneous arterial rupture has a peak incidence in the third or fourth decade of life, but may occur earlier. Midsize arteries are commonly involved. Arterial rupture is the most common cause of sudden death. Acute diffuse or localized abdominal or flank pain is a common presentation of arterial or intestinal rupture. Life expectancy is shortened with a majority of individuals living only into their forties. Pregnancies may be complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding. Treatments are available which may help extend life, and surgical interventions are improving.

Joint hypermobility is usually limited to the digits. Tendon and muscle rupture can occur. Talipes equinovarus (clubfoot) is frequently seen at birth. Other manifestations that may be found in the Vascular Type include: acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; arteriovenous fistula (an opening between an artery and vein), carotid-cavernous fistula; pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingival recession and complications during and after surgery (i.e. wound dehiscence).

The Vascular Type of EDS is caused by structural defects in the proa1(III) chain of collagen type III encodes by COL3A1. This type of EDS is inherited in an autosomal dominant manner. A skin biopsy can diagnose this type of EDS.