Types of Ehlers-Danlos syndrome?

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There are six types of Ehlers-Danlos syndrome (EDS): three main types and three rarer ones. Hypermobility, classical, and vascular are the most common, while kyphoscoliosis, arthrochalasis, and dermatoparaxis are so rare that fewer than 100 cases of each have been reported. Originally, researchers recognized 10 types of Ehlers-Danlos syndrome, but the simpler classification of six was introduced in 1997. It is possible that there are more than the six recognized types of Ehlers-Danlos syndrome, but these types have been found only in specific families and are not well defined or understood.

The most common of the six types of Ehlers-Danlos syndrome is hypermobility, formerly type III. Approximately one in 10,000-15,000 people are affected by this type of EDS. Typical symptoms include loose and unstable joints, muscle fatigue, and easy bruising. Joint instability causes frequent dislocations which can lead to chronic degenerative joint disease and premature osteoarthritis. Being double-jointed is not necessarily the same as having this type of EDS.

The classic type of EDS was previously classified as types I and II and affects approximately one in 10,000 to 20,000 people. Loose joints and muscle fatigue are also seen in these patients, but the hallmark symptoms are related to the skin. The skin is extremely elastic and fragile. The patient bruises and scars easily, heals wounds slowly, and has extra folds of skin in areas such as the eyelids. Fat deposits are common on the forearms and shins, while the elbows and knees will develop fibrous growths.

The least common of the major types of Ehlers-Danlos syndrome is the vascular type, formerly type IV. Although rare, affecting about one in 100,000 to 200,000 people, it is one of the more serious types because it affects blood vessels and organs. Blood vessels and organs are fragile and break easily. The skin is nearly translucent, and the face typically has a distinctive appearance of bulging eyes, sunken cheeks, and thin nose and lips. Many of these patients may develop a collapsed lung and heart valve problems.

The three remaining types of Ehlers-Danlos syndrome are extremely rare, affecting fewer than 100 people each. Kyphoscoliosis is characterized by severe scoliosis and fragile eyeballs. Patients with arthrokalasia will be short and severely limited by loose joints and subsequent dislocations. The signs of dermatosparaxis are very fragile and sagging skin. Further possible types have mostly been found in individual families and have yet to be fully defined.

While the six types of Ehlers-Danlos syndrome are well defined, individual cases often defy categorization. There may be an overlap of some symptoms leading to a delay in diagnosis or misdiagnosis. Treatment is largely limited to symptom relief, because as of 2011, there is no cure for this syndrome. Individuals with EDS who plan to have children should consult a genetic counselor before conceiving.

The type of EDS can determine a patient’s prognosis and outlook. The severity of symptoms varies significantly between types of Ehlers-Danlos syndrome. While most patients can expect to live normal lives, some will have mild symptoms while others will be severely limited. EDS is a lifelong problem, but the fear of pain and degeneration can be as great or greater a burden than the physical symptoms.

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