Ehlers-Danlos Syndrome
Description
Reviewed by Dr. Gary Meininger
Ehlers-Danlos Syndrome (EDS) describes a group of approximately eleven hereditary disorders mainly affecting the connective tissues from various parts of the body, such as skin, muscles, tendons, blood vessels, and ligaments. EDS can also affect other organs. In EDS, collagen, a common protein found in many types of connective tissues, is defective, leading to abnormalities in various connective tissues and subsequently to a variety of signs and symptoms (see below). Each type of EDS is distinct. In fact, individuals with the same type of EDS may have slightly different manifestations from each other. EDS is estimated to occur in approximately 1 in 5000 births, although the true incidence of this disease is unknown because it is difficult to diagnose EDS. Physicians who more commonly diagnose EDS include medical geneticists, pediatricians, rheumatologists and dermatologists.
Symptoms
Symptoms
Symptoms differ depending on the type of EDS, but they can include:
- Stretchy, rubber band-like skin that bruises or tears easily
- Poor and slow wound healing (usually taking weeks or months to heal)
- Small, harmless bumps under the skin
- Loose, unstable joints causing frequent dislocations usually in the shoulders, knees, hips, collar bone or jaw
- Double-jointedness (hyper-extensible joints)
- Joint pain from frequent dislocation
- Eye problems, including nearsightedness
Less-common symptoms of EDS include:
- Chronic, early onset of debilitating musculoskeletal pain
- Arterial, intestinal or uterine fragility or rupture
- Scoliosis at birth
- Poor muscle tone
- Mitral valve prolapse
- Gum disease
Diagnosis
The diagnosis of EDS is usually suspected based upon clinical findings and family history. Symptoms may not fit neatly into one of the specific types of EDS, so the diagnosis is often delayed.Your doctor may perform a complete physical exam, including checking for joint overextension, as well as obtaining a skin biopsy to study the biochemical and genetic makeup of your connective tissue.
Cause and Risk Factors
Causes
EDS is caused by various defects in collagen, the main structural protein in the body. In some parts of the body, collagen provides strength and support. In other parts of the body, collagen functions to provide elasticity to allow movement and glue to allow binding of proteins to one another. Consequently, if collagen is defective, it can produce a variety of problems.Risk Factors
Surgical procedures can be risky, as fragile tissues can unexpectedly tear. If you are scheduled for any type of surgery, be sure to tell the surgeons if you have Ehlers-Danlos Syndrome. You should also tell your surgeon if you have any vascular or bleeding problems.
Treatment
Causes
EDS is caused by various defects in collagen, the main structural protein in the body. In some parts of the body, collagen provides strength and support. In other parts of the body, collagen functions to provide elasticity to allow movement and glue to allow binding of proteins to one another. Consequently, if collagen is defective, it can produce a variety of problems.Risk Factors
Surgical procedures can be risky, as fragile tissues can unexpectedly tear. If you are scheduled for any type of surgery, be sure to tell the surgeons if you have Ehlers-Danlos Syndrome. You should also tell your surgeon if you have any vascular or bleeding problems.
Prevention
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 may cause fingers to hyperextend. Also:
- Rearrange storage areas and place items at comfortable heights.
- Consider placing a ramp over the steps, if stair-climbing puts excessive strain on your knees or hips.
- Duplicate items upstairs and downstairs to avoid frequent climbing up and down steps.
- Toddlers and young children should wear kneepads to protect them if they fall.
- Don't use scatter rugs and avoid using slippery floor polish.
- Consider using self-help devices, such as long-handled combs, if stretching puts your joints at risk for injury or dislocation.
Above all else, talk with your physician for specific recommendations. Resources
Arthritis Organization
Ehlers-Danlos National Foundation
Last updated: 12-Feb-02
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