The symptoms of Ehlers-Danlos syndrome (EDS) are primarily related to abnormal collagen and 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 as having the syndrome. There are several types of EDS, each with its own specific set of symptoms: classical type, hypermobility type, and vascular type. EDS is an uncommon syndrome.
The typical symptoms of Ehlers-Danlos syndrome include very flexible joints, popping joints, and joint pain. Skin will be very soft, easily bruised or damaged, and extremely stretchy. Additionally, a person with EDS may be flat footed and scar easily.
There are at least three types of EDS that each have their own set of symptoms. The classical type is characterized by loose joints, elastic skin, and redundant skin folds. Wounds are slow to heal, and growths on elbows and knees and heat valve problems are additional signs of this type of EDS.
The most serious type of EDS is vascular because blood vessels and organs are prone to rupturing. The skin is so thin that it is almost translucent and bruises easily. The patient’s face includes a thin nose and lips, small chin, and sunken cheeks. A collapsed lung is another of the symptoms of vascular type EDS.
A person with the hypermobility type of EDS will have loose and unstable joints that frequently dislocate. He or she will also typically experience muscle fatigue, premature osteoarthritis, and chronic degenerative joint disease. There are additional types of EDS, but these are so rare that they have been diagnosed in only a few families.
Genetic mutations passed from parent to child cause all types of EDS. These mutations interrupt 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 full physical examination. Very loose joints and stretchy and fragile skin coupled with a family history of the disorder are usually sufficient to make a diagnosis. Additional testing like genetic tests, a skin biopsy, or an echocardiogram may be ordered to help determine the specific type of EDS.
Treatment options help patients manage their symptoms of Ehlers-Danlos syndrome, but there is no cure. Strengthening muscles through physical therapy can stabilize joints and limit muscle pain. Surgery may be recommended to repair a damaged joint, but healing can be complicated by the syndrome because stitches may not hold stretchy skin together. Topical anesthetics and nonsteroidal anti-inflammatory drugs can 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 weightlifting may not be appropriate activities for people with EDS. Protective gear and assistive devices can limit joint stress. Using sunscreen and mild soaps will help protect easily damaged skin. People with EDS may find it beneficial 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 want to become pregnant should consult with their doctors or a genetic counselor prior to conception.