Ehlers-Danlos syndrome (EDS) can occur in different forms -- involving blood vessels, skin, and/or joints -- with a variety of different genetic defects as their cause. A variety of genetic mutations cause abnormality in collagen. Collagen provides structure and strength to connective tissue in skin, bone, blood vessels, and internal organs.

Different forms of EDS have different modes of inheritance. Family history is a risk factor in some cases.

Incidence is 1 in 400,000 in the USA.

• Joint dislocation or subluxation
• Joint pain
• Increased joint mobility, joints popping, early arthritis
• Double-jointedness, flat feet
• Easily damaged, bruised, and stretchy skin
• Very soft and velvety skin
• Easy scarring and poor wound healing
• Premature rupture of membranes at birth
• Visual difficulties

Examination by the health care provider may show:

• Excess joint laxity and joint hypermobility
• Soft, thin, or hyperextensible skin
• Mitral valve prolapse
• Periodontitis
• Signs of platelet aggregation failure (platelets do not clump together properly)
• Rupture of intestines, uterus, or eyeball (seen only in vascular EDS, which is rare)
• Deformed cornea

Tests:

• Collagen typing (performed on a skin biopsy sample)
• Collagen gene mutation testing
• Lysyl hydroxylase or oxidase activity
• Echocardiogram (heart ultrasound)

There is no specific cure for Ehlers-Danlos syndrome, so individual problems and symptoms must be evaluated and cared for appropriately. Frequently, physical therapy or evaluation by a physician specializing in rehabilitation medicine is needed.

People with EDS generally have a normal life span. Intelligence is normal.

Patients with the rare vascular type of EDS are at significantly increased risk for rupture of a major organ or blood vessel. These patients therefore have a high risk of sudden death.

• Failure of surgical wounds to close (or stitches tear out)
• Chronic joint pain
• Early-onset arthritis
• Rupture of major vessels, including a ruptured aortic aneurysm (only in vascular EDS)
• Rupture of a hollow organ such as uterus or bowel (only in vascular EDS)
• Rupture of the eyeball
• Premature rupture of membranes during pregnancy

Call for an appointment with your health care provider if you have a family history of Ehlers-Danlos syndrome and you are concerned about your risk or are planning to conceive a child.

Call for an appointment with your health care provider if you or your child has symptoms of Ehlers-Danlos syndrome.

Genetic counseling is recommended for prospective parents with a family history of Ehlers-Danlos syndrome. Affected parents should be aware of the type of Ehlers-Danlos syndrome they have and its mode of inheritance. This may be determined through testing and evaluation suggested by your health care provider or genetic counselor.

For those who have significant risks to their health, identification of risk may help prevent severe complications by vigilant screening and lifestyle alterations.