Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects collagen production, causing loose joints, stretchy skin, and other symptoms. There are at least three types of EDS, each with its own set of symptoms. Treatment options include physical therapy, surgery, and medication for pain. Patients should protect their skin and joints from injury and build a support system. Mental function is not affected, but complications can limit physical activities. Women with EDS should consult their doctor before becoming pregnant.
Symptoms of Ehlers-Danlos syndrome (EDS) are mainly related to abnormal collagen and the affected joints, blood vessel walls, and skin. Having very flexible or loose joints and stretchy skin are two of the most prominent symptoms of Ehlers-Danlos syndrome, although being double jointed is not the same thing as having the syndrome. There are several types of EDS, each with its own specific set of symptoms: the classic type, the hypermobility type, and the vascular type. EDS is a rare syndrome.
Typical symptoms of Ehlers-Danlos syndrome include very flexible joints, popping joints, and joint pain. The leather will be very soft, easily bruised or damaged, and extremely supple. Also, a person with EDS may have flat feet and scar easily.
There are at least three types of EDS which each have their own set of symptoms. The classic type is characterized by loose joints, supple skin, and redundant skin folds. Wounds are slow to heal and growths on elbows and knees and heat valve problems are further signs of this type of EDS.
The most serious type of EDS is vascular because blood vessels and organs are prone to rupture. The skin is so thin that it is almost translucent and bruises easily. The patient’s face includes a thin nose and lips, a small chin, and sunken cheeks. A collapsed lung is another symptom of vascular EDS.
A person with the hypermobility type of EDS will have loose, unstable joints that dislocate frequently. He or she will also typically experience muscle strain, premature osteoarthritis, and chronic degenerative joint disease. There are other types of EDS, but they are so rare that they have only been diagnosed in a few families.
Genetic mutations passed from parent to child cause all types of EDS. These mutations disrupt the production of collagen, a protein that makes connective tissues strong and elastic. As a result, these tissues can become unstable and weak.
An EDS diagnosis typically begins with a complete physical exam. Very loose joints and supple, fragile skin, along with a family history of the disorder, are usually sufficient to make a diagnosis. Additional tests such as genetic testing, a skin biopsy, or an echocardiogram may be ordered to help determine the specific type of EDS.
Treatment options help patients manage the symptoms of Ehlers-Danlos syndrome, but there is no cure. Strengthening muscles through physical therapy can stabilize joints and limit muscle soreness. Surgery may be recommended to repair a damaged joint, but healing can be complicated by the syndrome because the stitches may not hold the supple skin together. Topical anesthetics and nonsteroidal anti-inflammatory drugs may be prescribed for muscle and joint pain.
Patients with symptoms of Ehlers-Danlos syndrome should work to protect their skin and joints from injury. Contact sports and weight lifting may not be appropriate activities for people with EDS. Protective devices and assistive devices can limit joint stress. Using sunscreens and mild soaps will help protect skin that is easily damaged. People with EDS may find it helpful to build a support system and explain their symptoms to friends, family and their employers.
Mental function is not affected by the symptoms of Ehlers-Danlos syndrome, although complications can limit physical activities. Such complications can include scarring, chronic joint pain and dislocation, and early-onset arthritis. Women with EDS who wish to become pregnant should consult their doctor or genetic counselor before conception.
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