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Ehlers-Danlos Syndrome (EDS): Signs, Symptoms, Prevention and Coping

Author: Disabled World : Contact: Disabled World

Published: 2014-08-30 : (Rev. 2014-09-01)

Synopsis and Key Points:

Information regarding Ehlers-Danlos syndrome a group of inherited disorders that affects the connective tissues, joints, skin and walls of blood vessels.

Main Digest

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect a person's connective tissues, mainly their joints, skin and the walls of their blood vessels. Connective tissue is a complex mixture of proteins and other substances that provides elasticity and strength to the underlying structures of a person's body. People who experience Ehlers-Danlos syndrome (EDS) usually have overly flexible joints and skin that is fragile and stretchy. The skin issue may become a real problem if a person with EDS has a wound that requires stitches for example because their skin is often times not strong enough to hold the stitches.

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 hyper-mobility) 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.

A more severe form of the disorder is known as, 'Vascular Ehlers-Danlos syndrome.' Vascular EDS may cause the walls of a person's blood vessels, uterus, or intestines to rupture. People who have this form of EDS may want to communicate with a genetic counselor before starting a family.

Signs and Symptoms of EDS

A number of signs and symptoms of Ehlers-Danlos syndrome (EDS) exist. The signs and symptoms of the most common form of EDS include the following:

Fatty Lumps at Pressure Points: Small and harmless growths may occur around the knees or elbows of people with EDS. They might show up on X-rays too.

Fragile Skin: A person with EDS who has damaged skin may find their skin does not heal well. Stitches used to close a wound; for example, will often times tear out and leave a large scar. The scars may appear thin and crinkly as well.

Stretchy Skin: Weakened connective tissue permits a person's skin to stretch far more than it usually would. A person with EDS might be able to pull a pinch of skin up away from their flesh, yet it will snap back into place when they let go. Their skin may also feel particularly soft and velvety.

Overly Flexible Joints: Due to the fact that the person's connective tissue which holds their joints together is looser, the person's joints may move far past the average range of motion. The person's smaller joints are affected more than their larger joints. The person may also be able to touch the tip of their nose with their tongue.

The severity of the symptoms can vary between people affected. Some people with Ehlers-Danlos syndrome (EDS) have overly flexible joints, yet few or none of the skin symptoms. People who experience vascular EDS often share distinctive facial features such as:

People with vascular EDS also have skin that is thin and translucent and bruises easily. In fair-skinned people with vascular EDS, their underlying blood vessels are highly visible through their skin. As one of the most severe forms of EDS, vascular EDS may weaken the person's aorta, as well as the arteries in their spleen and kidneys. A rupture of any of these blood vessels may be fatal. The vascular subtype of EDS can also weaken the walls of a person's uterus or large intestines, which might also rupture.

Causes of EDS: Different subtypes of Ehlers-Danlos syndrome (EDS) are associated with a number of genetic causes. Some of these causes are inherited and passed on from parent to child. If a person has EDS there is a 50% chance they will pass the gene on to their children.

Tests and Diagnosis of EDS: Extremely loose joints, fragile or stretchy skin, as well as a family history of Ehlers-Danlos syndrome (EDS) are often times enough to achieve a diagnosis. Genetic tests on a sample of a person's blood may confirm the diagnosis in some instances and assist with ruling out other issues.

Complications of EDS: Complications of EDS depend on the types of signs and symptoms a person experiences. For example; overly flexible joints may result in joint dislocations and early-onset arthritis. Fragile skin might develop prominent scarring. People who have vascular EDS are at risk of fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, may also rupture. Pregnancy increases the person's risks.

Treating EDS

At this time, there is no cure for Ehlers-Danlos syndrome (EDS). Treatment may help a person to manage their symptoms and prevent additional complications. A doctor may prescribe medications to help the person to control:

Blood Pressure: Blood vessels are more fragile in some forms of EDS. A doctor may want to reduce stress on the vessels by keeping a person's blood pressure low.

Pain: If over-the-counter pain medications such as naproxen or ibuprofen are not doing enough, a doctor might prescribe stronger medications for the person's joint and muscle pain.

Physical Therapy and EDS

Joints with weak connective tissue are more likely to dislocate. Exercises to strengthen a person's muscles around a joint may help to stabilize the joint. A physical therapist may also recommend specific braces in order to help prevent joint dislocations. In rare instances, surgery is recommended to repair joints damaged by repeated dislocations; however, a person's skin and the connective tissue of the affected joint might not heal appropriately after surgery.

Preventing EDS

If you have a personal or family history of Ehlers-Danlos syndrome (EDS) and you are considering starting a family, you might benefit from communicating with a genetic counselor. A genetic counselor is a health care professional trained to assess the risk of inherited disorders. Genetic counseling may help you understand the inheritance pattern of the type of EDS that affects you and the risks related to having children.

If you have EDS it is important to protect your skin and joints and to prevent injuries. Some different things you can do to safeguard yourself include the following:

Avoid Injury: Avoid weightlifting, contact sports and other activities that increase your risk of receiving an injury.

Use Mild Sunscreen and Soap: To protect easily damaged skin and guard against premature aging, wear sunscreen when you are outside and use mild soap.

Reduce Clutter: To prevent falls and injuries at home, avoid loose rugs and electric cords that can increase your risk of tripping and falling. Keep walkways and doorways free of clutter.

Coping with EDS

Coping with a lifelong illness is challenging, to say the least. Depending upon the severity of the symptoms you experience you might face challenges at home, work, or in relationships with other people. Some suggestions that may help you to cope include the following:

Increase Your Knowledge: Knowing more about EDS may help you to take control of your condition. Find a doctor who is experienced in the management of EDS.

Tell Other People: Explain your condition to family members, friends and your employer. Ask your employer about any accommodations you feel would make you a more productive worker.

Build a Support System: Cultivate relationships with family members and friends who are caring and positive. It might also help to communicate with a clergy member or a counselor. Support groups can help people to share common experiences and may present potential solutions to issues.

If you are a parent of a child with EDS, treat your child like other children. Ask grandparents, uncles, aunts, teachers and others to treat your child like other children as well. Be open - allow your child to express their feelings about having EDS, even if it means being angry sometimes. Make sure your child's teachers and other caregivers are aware of your child's condition. Review with them appropriate caregiving skills, especially in the event of a fall or an injury.

Promote activity; encourage your child to participate in physical activities with appropriate boundaries. Discourage contact sports, even as you encourage non-weight bearing activities like swimming. Your child's doctor or physical therapist might also have some recommendations.

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