Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Ehlers-Danlos Syndrome (EDS) is a group of hereditary disorders that mainly affects the skin and joints. Individuals with EDS have a defect in their connective tissue, which provides support to many of their body parts including the skin, muscles, and ligaments. This defect is due to abnormal collagen, a protein which acts as a “glue” in the body to add strength and elasticity to the connective tissue. As a result, the connective tissues of the body are weak and excessively flexible, which causes fragile skin and unstable joints

Who

EDS occurs in about 1 in 20,000 people, equally affecting males and females, and all racial and ethnic backgrounds. EDS is passed on within families, and is a result of an abnormal change in a single gene.

Signs and Symptoms

There are 6 major types of EDS and each is classified according to how the various signs and symptoms show up in the body. To learn more about the types of EDS please visit the website for the Ehlers-Danlos National Foundation, listed below in the Weblinks section. Click on “click here to learn more about types of EDS” which is located under the subheading “types”. In general, the symptoms associated with EDS vary among individuals and most often involve the skin and joints. The skin is soft and feels somewhat like velvet. It also stretches like a rubber band. The skin is fragile and bruises or tears easily. When this happens, it heals very poorly and slowly, often taking weeks to months to heal. There may be small harmless bumps under the skin. The joints are very flexible (hyperextensible) which some people refer to as being “double-jointed”. The joints are loose and unstable which causes dislocations where the bone pops out of its socket. This usually occurs in the shoulders, knees, hips, collar bone, or jaw. Because of frequent dislocations, they may develop joint pain. The eyes are commonly affected causing vision problems such as nearsightedness. Some less common problems include: pains of the muscles and bones, heart and/or lung problems, gum disease, abnormal curvature of the spine (scoliosis), problems with blood clotting, and/or weak blood vessels.

Possible Causes

Genes direct the development and function of every cell in the body and they exist in pairs, one half of the pair passed to the child by the mother and the other half by the father. If an abnormal change occurs in a gene, it may lead to a malfunction in the cells which may then lead to certain disorders such as EDS. There are 3 ways in which EDS can be inherited. The first is autosomal dominant inheritance, in which the EDS gene is dominant. This means that only one of the genes (either the gene from the mother OR the gene from the father) needs to be defective in order for their child to get the disease. EDS may also be autosomal recessive, and in this case an individual needs to receive two broken copies of the genes (one from the father AND the other from the mother) in order to get EDS. Finally, EDS may be X-linked recessive. In this case the broken gene is transmitted through the X chromosome. Two special chromosomes carry genes that determine the sex of a child. (XX= female, XY= male). A male will get the disorder if his one X chromosome carries the defect, but since females have two X chromosomes each X chromosome must carry the defect in order for them to get EDS. Remember, parents have no control over which genes they pass on to their children.

Diagnosis

A diagnosis is made based on a family history of members having any of the types of Ehlers-Danlos, a patient history of symptoms consistent with any one of the 6 types of EDS and a physical examination confirming those findings in the affected individual. Specific tests may be available for some types of EDS but not all. A piece of skin may also be examined to study the chemical make-up of the connective tissue.

Treatment

Treatment varies depending on the symptoms that are present. It is recommended that affected people avoid excessive sun exposure, as well as contact sports and activities that cause the joints to lock or overextend. Bracing may be prescribed to stabilize the joints, and surgical repair of the joints may be necessary at some point. Physical therapy is often recommended to help strengthen muscles and teach people how to properly use and preserve their joints. Women who are affected with EDS should speak with their physician before becoming pregnant. Regular check ups during their pregnancy are recommended because there is a risk of rupture of the uterus.

Prognosis

The prognosis depends on the specific type of EDS an individual has. Life expectancy is normal for people with EDS except for those with the vascular type of EDS which involves the possibility of vessel and organ rupture.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Ehlers-Danlos National Foundation
A good website for information about the disease.

Ehlers Danlos support group UK
A nice site for parents to meet other families with the same syndrome and for information.

e-Medicine
A comprehensive summary of the syndrome.

Google Search for Ehlers-Danlos Syndrome (EDS)

References and Sources

www.orthop.washington.edu/artiritis/types/ehlerdanlos/ print Ehlers-Danlos Syndrome: A nice website that explains basic genetics and describes more on management and coping. www.ednf.org/whatisit.php Ehlers-Danlos National Foundation: A good website for information about the disease. www.anaiis.tripod.com/hmedfm/id10.html Ehlers-Danlos Syndrome Info: An outline of information from the Hypermobility and Fibromyalgia Support Site. www.ehlers-danlos.org/Support%20Group/EDS%20Info.htm Ehlers-Danlos Support Group: Information regarding the disease and how to become involved in support groups.