How are Ehlers-Danlos syndromes treated?

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome is a group of disorders that affect connective tissues, which are tissues that support the skin, bones, blood vessels, and other organs. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.

In the past, there were more than 10 recognized types of Ehlers-Danlos syndrome. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the arthrochalasia type, the classic type, the dermatosparaxis type, the hypermobility type, the kyphoscoliosis type, and the vascular type. Other forms of the condition may exist, but they have been reported only in single families or are not well characterized.

Ehlers-Danlos syndrome facts

• Ehlers-Danlos syndromes are a group of disorders which share common features including easy bruising, joint hypermobility (loose joints), skin that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.

• The Ehlers-Danlos syndromes are inherited in the genes that are passed from parents to offspring.

• Danlos syndromes symptoms and signs are joints that are more flexible than normal and loose skin that stretches away from the body.

• The diagnosis of Ehlers-Danlos syndrome is based upon the clinical findings of the patient and the family history.

• Ehlers-Danlos syndromes are treated according to the particular manifestations present in a given individual.

Symptoms of Ehlers-Danlos syndrome

Signs and symptoms of the most common form of Ehlers-Danlos syndrome include:

• Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Small joints are affected more than large joints. You might also be able to touch the tip of your nose with your tongue.

• Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.

• Fragile skin. Damaged skin often doesn’t heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.

• Fatty lumps at pressure points. These small, harmless growths can occur around the knees or elbows and may show up on X-rays.

Symptom severity can vary from person to person. Some people with Ehlers-Danlos syndrome will have overly flexible joints but few or none of the skin symptoms.

How common is Ehlers-Danlos syndrome?

Although it is difficult to estimate the overall frequency of Ehlers-Danlos syndrome, the combined prevalence of all types of this condition may be about 1 in 5,000 individuals worldwide. The hypermobility and classic forms are most common; the hypermobility type may affect as many as 1 in 10,000 to 15,000 people, while the classic type probably occurs in 1 in 20,000 to 40,000 people.

Other forms of Ehlers-Danlos syndrome are very rare. About 30 cases of the arthrochalasia type and fewer than 60 cases of the kyphoscoliosis type have been reported worldwide. About a dozen infants and children with the dermatosparaxis type have been described. The vascular type is also rare; estimates vary widely, but the condition may affect about 1 in 250,000 people.

Causes of Ehlers-Danlos syndrome

Different subtypes of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child.

If you have some subtypes of Ehlers-Danlos syndrome, such as the vascular variety, there’s a 50 percent chance that you’ll pass the gene on to each of your children.

How are Ehlers-Danlos syndromes treated?

Ehlers-Danlos syndromes are treated according to the particular manifestations present in a given individual.

Skin protection (from injury of trauma and sun, etc.) is critical. Wounds must be tended with great care and infections treated and prevented. Suturing can be difficult as the skin can be extremely fragile.

Joint injury must be avoided. Occasionally, bracing may be necessary to maintain joint stability. Exercises that strengthen the muscles that support the joints can help to minimize joint injury. Contact sports and activities involving joint impact should be avoided.