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Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of hereditary disorders that affects mainly the skin and joints, but other organs as well. EDS results in weakness and/or excessive flexibility of the connective tissues of the body. People with EDS are born without the ability to make certain components of the normal connective tissue of the body. Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body

(collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, strengthening, and providing elasticity to bodily cells and tissues. Due to defects of collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin, stretchy (elastic) skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes.

At least 9 different types of EDS have been identified; symptoms vary depending on which type of EDS a person has. 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:

  • skin problems
  • soft velvet-like skin
  • fragile skin that bruises or tears easily
  • stretchy rubber band-like skin
  • easy or severe bruising
  • poor and slow wound healing (usually taking weeks to months to heal)
  • small harmless bumps under the skin
  • joint problems
  • loose unstable joints causing frequent dislocations usually occurring in the shoulders, knees, hips, collar bone or jaw
  • double jointedness (hyper extensible joints), extreme in some cases
  • joint pain from frequent dislocation
  • eye problems
  • nearsightedness, occasionally extreme
  • Less common symptoms that may occur in the more rare forms of EDS include:

  • gum disease (EDS) VIII)
  • curvature of the spine (EDS VI)
  • problems with blood clotting (EDS X)
  • more serious eye conditions (EDS VI)
  • pulmonary (lung) problems (EDS IV)
  • weak blood vessels, intestines or uterus that may lead to more serious complications (EDS IV)
  • The different types of EDS were originally categorized in a classification system that used Roman numerals (e.g., EDS I to EDS XI), based upon each form’s associated symptoms and findings (clinical evidence) and underlying cause. A revised, simplified classification system (revised nosology) has since been described in the medical literature that categorizes EDS into six major subtypes, based upon clinical evidence, underlying biochemical defects, and mode of inheritance. Each subtype of EDS is a distinct hereditary disorder that may affect individuals within certain families (kindreds). In other words, parents with one subtype of EDS will not have children with another EDS subtype. Depending upon the specific subtype present, Ehlers-Danlos syndrome is usually transmitted as an autosomal dominant or autosomal recessive trait.

    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.).

    There is no specific treatment for Ehlers-Danlos syndrome, and individual problems must be evaluated and cared for appropriately. 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.

    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. Some forms of EDS (especially EDS IV) can cause serious complications such as bleeding or tearing during childbirth or premature births. Any woman who has Ehlers Danlos syndrome should discuss pregnancy with a doctor who is familiar with EDS and its complications. 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.

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    All information is intended for reference only. Please consult your physician for accurate medical advices and treatment. Copyright 2005, health-cares.net, all rights reserved. Last update: July 18, 2005