What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is a group of disorders that mostly affect your skin, joints, and blood vessels. People with EDS often have very flexible joints and stretchy skin that bruises easily.

Connective tissue is one of your body’s basic building blocks. It gives you strength, support, and structure for everything from your skin to your organs. When there’s a problem with it, such as with EDS, the effects can be serious.

For some, the condition is mild; for others, it’s more severe. While there’s no cure, usually only one kind -- vascular EDS -- is life-threatening.

What Causes It?

Genes tell your body how to make proteins. So if you have a problem in one or more genes, some of the proteins you need won’t be made the right way. It’s kind of like having a cake recipe that lists the wrong amount of butter.

With EDS, a glitch in your genes means that your collagen, one of the main proteins in connective tissue, isn’t made the same way as usual.

That, in turn, means your connective tissue works differently than most people’s, which causes the symptoms. The various types of EDS are caused by flaws in different genes that help make connective tissue.

Signs and Symptoms

These vary based on which type you have. Some of the most common ones are:

  • Overly flexible joints: For example, you may be able to push your thumbs all the way to your forearm or bend your knees backward.
  • Stretchy skin: You can pull your skin away from your body, and it snaps back. It might also be very soft and velvety.
  • Easily bruised: Your skin may be very fragile. It may bruise and scar easily, and your wounds take a long time to heal.

Other common signs and symptoms include:

Possible Complications

EDS can lead to different problems based on your signs and symptoms. Some of the more common ones are:

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Vascular EDS

This type can be life-threatening because it weakens the walls of your blood vessels, such as the arteries of your heart, kidneys, and spleen. This makes them more likely to burst. It can do the same to the uterus and large intestine.

If you’re a woman with vascular EDS and want to start a family, it’s best to let your doctor know. For your safety and your baby’s, you’ll need very close care throughout your pregnancy.

Diagnosis

Your doctor will probably start with a physical exam that may include a check of your skin and joint flexibility. She will ask about your symptoms, and whether you know if anyone in your family has EDS. Often, the physical and the family history are enough to tell if you have it.

Your doctor may also suggest a:

  • Blood test to look at your genes and make sure EDS, and not some other disease, is causing your symptoms
  • Heart ultrasound (echocardiogram) to look for heart problems common to some types of EDS
  • Skin biopsy to take a small sample and check the collagen for signs of the syndrome

Treatments

There’s no cure for EDS, so treatment focuses on steps you can take to prevent and manage symptoms. It’s based on your signs and symptoms and may involve a team of doctors and specialists.

Medicine: For some people, over-the-counter drugs such as ibuprofen (Advil, Motrin) don’t relieve the pain. If you’re one of them, your doctor may prescribe a stronger medicine for you.

If EDS affects your blood vessels, your doctor may give you medicine to keep your blood pressure down.

Exercise: If you get dislocated joints, a physical therapist can show you exercises to strengthen the muscles around those joints to help keep them in place. He may also suggest you wear braces around some joints for more support.

Surgery: For some people, joint damage from EDS can get serious. Surgery can sometimes help, but it’s not very common because your skin may not heal well.

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Self-care: For the most part, self-care is about prevention. It’s best to avoid:

  • Contact sports such as football or hockey
  • Exercises that put stress your hips, ankles, and knees, such as aerobics and running
  • Instruments that you blow into, such as the trumpet or saxophone

If you ride a bike, rollerblade, or do other similar activities, it helps to wear padding, especially over your shins, knees, and elbows.

Lower impact-exercises such as swimming and walking could be good choices. Talk to your doctor before trying any new kind of exercise.

To protect your skin, use sunscreen when you’re outside. And when bathing or showering, mild soaps are more gentle on your body.

WebMD Medical Reference Reviewed by Nayana Ambardekar, MD on November 11, 2018

Sources

SOURCES:

Mayo Clinic: “Ehlers-Danlos Syndrome.”

Cincinnati Children’s: “Ehlers-Danlos Syndrome (EDS).”

Encyclopedia Britannica, “Connective Tissue.”

NIH, U.S. National Library of Medicine: “Ehlers-Danlos Syndrome.”

NIH: “The Genetic Basics: What Are Genes And What Do They Do?”

Medscape: “Ehlers-Danlos Syndrome.”

National Organization for Rare Disorders: “Ehlers Danlos Syndrome.”

Boston Children’s Hospital: “Ehlers danlos syndrome in children.”

Arthritis Foundation: “Ehlers-Danlos Syndrome (EDS).”

Mayo Clinic: “TMJ Disorders.”

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