This patient support community is for discussions relating to Peripheral Nerve Hyperexcitability (PNH) and the various conditions related to it such as neuromyotonia (NMT), cramp fasciculation syndrome (CFS), benign fasciculation syndrome (BFS), Isaacs syndrome and others.
Also called: Cutis elastica,
EDS Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that weaken connective tissues. Connective tissues are proteins that support skin, bones, blood vessels and other organs. EDS usually affects your skin, joints and blood vessel walls.
Symptoms include Loose joints Fragile, small blood vessels Abnormal scar formation and wound healing Soft, velvety, stretchy skin that bruises easily There are several types of EDS. They can range from mild to life-threatening. About 1 in 5,000 people has EDS. There is no cure. Treatment involves managing symptoms. It also includes learning how to protect your joints and prevent injuries.
Symptoms vary depending on which type of EDS a person has. The most common forms of Ehlers-Danlos syndrome (EDS Type I and II) are characterized by one or more of the following features:
Less common symptoms that may occur in the more rare forms of EDS include:
Specific diagnostic tests are available for some types of EDS in which there is a known biochemical defect. Doctors will also review your family and medical histories and perform a complete physical examination.
Having EDS is more than being limber or double-jointed. "Over extension" is the ability to flex the joints beyond normal limits.
Sometimes, a skin biopsy may be performed to study the chemical make-up of the connective tissue. (A biopsy is a simple, almost painless procedure in which a tiny piece of skin is removed for examination in the laboratory.).
Because Ehlers-Danlos is uncommon, it is important to find a doctor who has experience with its diagnosis and treatment. Many family doctors, pediatricians, arthritis specialists, skin specialists and specialists in medical genetics are able to diagnose and/or treat Ehlers-Danlos syndrome. If you are unable to find a knowledgeable doctor in your area, contact the Ehlers-Danlos National Foundation.
EDS is often misdiagnosed as fibromyalgia, and other arthridic type conditions. It is important to know if you have this condition especially prior to having major surgery.
Treatment will vary, depending on how EDS affects you. One or more of the following treatments and precautions may be recommended.
Because serious complications can occur in the more rare forms of EDS, regular check-ups with specialists familiar with EDS are recommended. Ask your doctor to describe the symptoms of any possible complications and what to do should these occur.
Learning how to protect your joints will help prevent further injury, reduce pain, conserve energy and enable you to stay as active as possible. Recognize activities that cause joint pain and find less painful ways to move and perform tasks.
Avoid activities that cause you to overextend or "lock" your joints. Frequent over extension of the joints may cause chronic "traumatic" arthritis. For example, avoid leaning on or pushing off with the palms of your hands. These movements cause fingers to hyperextend.
Prevent slips and falls at home by keeping walkways, entrances and exits clear of toys and other objects. Don't use scatter rugs and avoid using slippery floor polish. Toddlers and young children should be encouraged to wear knee pads to protect their knees if they do fall.
Consider using self-help devices, such as long-handled combs and reachers, if reaching or stretching puts your joints at risk for injury or dislocation. Most devices can be found in hardware or variety stores, pharmacies or medical supply shops.
How you store routinely used items can also make a difference. Are items within easy reach? If not, rearrange storage areas and place items at comfortable heights. If stair-climbing puts excessive strain on your knees or hips, consider placing a ramp over the steps. Duplicate items upstairs and downstairs to avoid frequent trips up and down steps. Identify other ways to make your home or work area safe and comfortable. Be creative and see what works for you.
Children and adults should have regular eye exams. Nearsightedness (myopia) is a common condition and can be corrected with prescription glasses or contact lenses. People with EDS VI are particularly at risk for more serious eye conditions and need to consult a doctor who has experience treating EDS.
Vitamin C (ascorbic acid) may or may not be effective in reducing the severity of symptoms for some people with EDS VI and possibly other types. Be sure to check with your doctor before taking supplemental doses of vitamin C.
Premature aging due to sun exposure is a risk for many people with Ehlers-Danlos syndrome. When out-of-doors during peak daylight hours use a sunscreen with a protection factor of 15 or above and wear long sleeves, long pants and a wide brimmed hat.
Joint stability may be improved through prescribed exercise programs that strengthen the muscles. But avoid weightlifting. It puts too much strain on your joints. In fact, any exercises that cause you to put pressure on locked joints should be avoided. Check with your doctor or physical therapist to learn appropriate strengthening exercises and the proper way to do them.
People with EDS may need surgery to correct fractures and dislocated joints. If you are scheduled for any type of surgery be sure to tell the surgeons that you have Ehlers-Danlos syndrome so that surgeons may choose to use staples or tape (rather than stitches) to close wounds. Surgeons should also be alerted to any vascular or bleeding problems.
If you or your child has EDS, you know that it may present many challenges.
Adults and children may initially react with feelings of fear, anger or depression. Children may also feel self-conscious about having the disorder. Try to remember that it often takes time to adjust to having a chronic (long-lasting) disorder, but that many people with Ehlers-Danlos syndrome are able to live full, relatively active lives.
If you have EDS you might have concerns about managing pain, maintaining independence, financial strain or family worries. Discussing your problems and learning new ways to manage daily activities will help you cope more effectively. Your family may be one of your best sources of support. Discuss these issues with them, and ask for their support.
It is important that parents discuss their child's symptoms with teachers, neighbors, relatives, baby-sitters and friends. They need to understand that cuts and bruises are common features of the Ehlers-Danlos syndromes, and not signs of child abuse. They also need to know about the following:
Although children with EDS may need special protection, they also need to play and have friends. Involve your children in activities they can safely enjoy. Ehlers-Danlos syndrome does not affect intelligence, but medical problems may interfere with progress in school or the child's social or psychological adjustment.
Children with disabilities have legal rights to a free and appropriate public education, along with special services. For further information about special needs of children and educational rights, consult our article on juvenile arthritis.
For more information on parent advocacy, contact your local chapter of the Arthritis Foundation or the American Juvenile Arthritis Organization (AJAO).
You might find it helpful to talk with a health professional such as a medical social worker, psychologist, genetic counselor, or clergyman about your illness and how it affects you and your family. Ask your doctor for a referral or contact your local church or family social service agency.
Many people gain support by sharing their concerns with other people who have the disorder. The Ehlers-Danlos National Foundation can provide you with names of both children and adults with EDS who live in your area. Children, especially, may wish to talk to other children who have EDS.
Support services exist for people who may be more severely disabled. For more information, contact the State Crippled Children's Services, Department of Vocational Rehabilitation or the Social Security Administration's Supplemental and Disability Insurance Income Program.
Medical researchers are studying inherited disorders of connective tissue. By analyzing the chemical make-up of connective tissue and the results of gene mutations, they will some day find ways to treat EDS more effectively, and perhaps cure or prevent these disorders.
Patients that have Chiari malformation, Tethered cord and Ehlers-Danlos Syndrome. The NS's at TCI made this discovery a few years ago, and are trying to find the link.
Some of this material may also be available in an Arthritis Foundation brochure. Contact the Washington/Alaska Chapter Helpline: (800) 542-0295. If dialing from outside of WA and AK, contact the National Helpline: (800) 283-7800.
Adapted from the pamphlet originally prepared for the Arthritis Foundation by Meinhard Robinow, M.D., Robin L. Bennett, M.S.
This resource has been provided by the University of Washington Department of Orthopaedics and Sports Medicine as general information only. This information may not apply to a specific patient. Additional information may be found at http://www.orthop.washington.edu or by contacting the UW Department of Orthopaedics and Sports Medicine.
What Dr should I see?
Most NS or NL can dx and treat EDS, but if you have other related conditions such as Chiari Malformation or Syringomyelia , drs that specialize in this area would be a good place to look for expertise.