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Ehlers-Danlos syndrome

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Ehlers-Danlos syndrome – vascular type

Ehlers-Danlos syndrome is a group of genetic connective tissue disorders characterized by unstable, hypermobile joints, loose, “stretchy” skin, and fragile tissues.

People with Ehlers-Danlos features need to see a doctor who knows about this and other connective tissue disorders for an accurate diagnosis; often this is a medical geneticist. It is very important that people with Ehlers-Danlos syndrome are diagnosed early so they can begin the right treatments to prevent serious complications.

What causes Ehlers-Danlos syndrome?

Like Marfan syndrome, Ehlers-Danlos syndrome is caused by a defect in the body’s connective tissue. Unlike Marfan syndrome, the fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to defects in a group of proteins called collagen, proteins that add strength and elasticity to connective tissue.

What is Ehlers-Danlos syndrome—vascular type?

There are several different types of Ehlers-Danlos syndrome, each with its own set of features and complications.

Ehlers-Danlos Syndrome—Vascular Type is generally regarded as the most serious form of Ehlers-Danlos Syndrome due to the possibility of arterial or organ rupture. The skin is usually thin and translucent with veins being seen through the skin (see photos below). This 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 (see photo below).

Arterial/intestinal/uterine fragility or rupture commonly arise in this type of Ehlers-Danlos syndrome. 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 maybe complicated by intra-partum uterine rupture and pre- and postpartum arterial bleeding.

Joint hypermobility is usually limited to the digits (see photos below). 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; arteriovenousfistula (an opening between an artery and vein), carotid-cavernousfistula (abnormal communication between the arterial and venous systems within the cavernous sinus in the skull); pneumothorax (collapse of a lung) /pneumohemothorax (collapse of a lung with a collection of air or gas and blood); gingival recession (receding gums) and complications during and after surgery such as  wound dehiscence (surgical wound slipts open)..

The Vascular Type of Ehler-Danlos syndrome is caused by structural defects in the proα1(III) chain of type III procollagen encoded by the COL3A1 gene. This type is inherited in an autosomal dominant manner.