What Is Ehlers-Danlos Syndrome?

Medically Reviewed by Zilpah Sheikh, MD on April 09, 2024
8 min read

Ehlers-Danlos syndrome (EDS) is an inherited condition that weakens your connective tissues, which hold parts of your body together. These include your bones and cartilage, as well as your blood and fatty tissue. As a result, EDS can make your joints loose and your skin thin and easily bruised. It can also weaken your blood vessels and organs.

There's no cure yet for EDS, but your symptoms can be treated and managed.

EDS is named after the two doctors, Ehlers and Danlos, who first described it. The syndrome is now known to include 13 different types of connective tissue disorders. While all slightly different, each weakens your joints and the structure of your skin.

The types of EDS include:

Hypermobile Ehlers-Danlos syndrome (hEDS). The most common form of EDS, it makes your joints bend farther than they should. That makes them more likely to be sprained or pop out of place. hEDS can also cause chronic (long-term) muscle and bone pain.

Classical Ehlers-Danlos syndrome (cEDS). In this type, your skin is smooth, extremely stretchy, and fragile. It's very common for the skin over your knees and elbows to scar and bruise easily. You're also likely to have sprains, dislocations, or conditions such as flat feet and issues with heart valves or arteries. cEDS affects about 1 in every 20,000-40,000 people. But it's possible to have a mild form and not know about it.

Vascular Ehlers-Danlos syndrome (vEDS). About 1 in every 100,000-200,000 people are born with this kind of EDS. It affects the network of blood vessels in your body, weakening them and making your organs more likely to tear.

Some of the rarer types of EDS are:

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS). This is when you're born with weak muscles and bones. You may have unusually long limbs or fingers and a curved spine that gets more pronounced over time. You could also have eye issues, such as shortsightedness (blurry vision when you try to see a far-off object) or glaucoma, which is related to too much pressure inside your eye. Less than 50,000 people in the U.S. have kEDS.

Arthrochalasia EDS (aEDS). With this form, you're born with your hip joints out of place. Your joints are extremely loose, and you have the same curved spine as with kEDS. This condition affects less than one in a million people.

Spondylodyspastic EDS (spEDS). If you have this type, you have extremely soft, dough-like skin that bruises and scars very easily. Low muscle tone and a short height are also common signs of spEDS. Like aEDS, it's extremely rare and affects less than one in a million people.

Symptoms vary based on which type of EDS you have. Some of the most common signs 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.
  • Bruising easily. Your skin may be very fragile. It may bruise and scar easily, and your wounds could take a long time to heal.

Other symptoms include:

  • Dental issues such as tooth crowding or bleeding gums
  • Painful joints
  • Feeling tired even after you rest
  • Trouble focusing
  • Headaches
  • Flat feet
  • Muscle weakness, especially in cold temperatures
  • Loss of bladder control (trouble holding your pee)
  • Dizziness
  • Digestive issues (such as feeling bloated or gassy often)

Signs of EDS in children

Some kids with EDS may also:

  • Struggle with motor skills (such as sitting, standing, and walking)
  • Be small or short for their age
  • Have distinct facial features (large eyes, small chin, flat lips, and thin nose)

EDS happens when your body doesn't make a protein called collagen in the right way. Collagen helps form the connections that hold your body's bones, skin, and organs together. If it's not as strong as it should be, those structures become weak and can't function like they should.

EDS is a genetic disorder. That means it's something that can be passed on to you from your parents. If one of your parents has this condition, you're likely to have it, too.

But some people who are diagnosed with EDS are the first in their family to get it.

Your doctor will likely start with a physical exam:

  • They may check to see how far your knees, elbows, fingers, and waist can bend. Can your thumb touch your forearm? Can you bend your pinkie more than 90 degrees?
  • They'll take a look at your skin, checking to see how far it stretches and looking for any scars or bruises that could have been caused by EDS.
  • They'll ask about your medical history and if you or anyone in your family has had these symptoms in the past.

Sometimes, a diagnosis can be made at this point. Or, your doctor may order other tests.

EDS tests

Sometimes, genetic testing can confirm that you have EDS. A quick blood test can look for some of the gene mutations (changes) that cause EDS. But if no changes are found, it doesn't mean that you don't have EDS. It only means that you don't have the specific gene changes that the test looked for.

Other tests can help your doctor better understand how EDS is affecting your body. For instance:

  • If they think you might have issues with your heart or blood vessels, you could get an echocardiogram, a painless test that uses sound waves to make an image of your heart.
  • To check your spinal cord and nerves, your doctor might ask for a CT scan, which takes X-rays from different angles and puts them together to make a more complete picture.
  • Because some types of EDS affect your spine and organs, your doctor may order an MRI scan. This test uses powerful magnets and radio waves to make an image that's more detailed than an X-ray.
  • Your doctor might also take a skin biopsy. For that, they'll take a small sample of your skin to look for signs of abnormal collagen under a microscope. They might also run chemical tests on the sample to try to find out which type of EDS you might have.
  • At times, a urine (pee) sample can also be tested to get more information.

Once your doctor knows which form of EDS you have, you can talk about how to manage your symptoms. You might need to see several kinds of doctors, including:

  • An orthopedist, who specializes in joint and skeletal issues
  • A dermatologist, who treats skin conditions
  • A rheumatologist, who deals with diseases that affect connective tissues
  • An ophthalmologist, a doctor who has special training in eye issues
  • A cardiologist, who can focus on your heart health

Some treatment options include:

  • Physical therapy and exercise to build your muscle tone and improve your coordination. Stronger muscles can help prevent your joints from popping out of place. Helpful activities can include walking, low-impact aerobics, swimming, or biking. Physical therapy is especially important for kids living with EDS.
  • Occupational therapy. You can learn to use techniques or special tools that make getting through your everyday life easier. An occupational therapist can also show you ways to prevent hurting yourself and give you tips to reduce stress.
  • Braces or other assistive devices, such as a wheelchair or scooter, to make getting around easier.
  • Calcium and vitamin D supplements to help strengthen your bones.
  • Over-the-counter drugs to help with joint pain. If those don't help, your doctor may prescribe a stronger medication.
  • Surgery to help repair joints is also an option. But because it comes with risks, your doctor will likely not suggest it unless other treatments haven't helped.

Based on the type of EDS you have, you could experience health issues such as:

  • Chronic joint pain. You may also have severe muscle aches.
  • Dislocated joints. You could have a bone pop fully out of a joint, or just halfway. Some people with EDS experience this every day.
  • Gum and teeth issues. EDS can cause a range of issues inside your mouth, including cavities and tooth loss.
  • Mitral valve prolapse. This is when one of the valves in your heart doesn’t close as it should, which causes issues with blood flow.
  • Chronic arthritis. This can start at an earlier age than usual.
  • Temporomandibular joint disorders (TMJ). These cause pain in your jaw.
  • Poor wound healing. For instance, if you have surgery, it may take longer for your body to repair the area where your skin was opened.
  • Eye issues. EDS makes tears to your retina more likely.
  • Epilepsy. There's a strong link between seizures and EDS, although more studies need to be done to understand why.
  • Stroke. This is a concern if you have vascular EDS.
  • Ruptured organs. Some types of EDS make tears in your internal organs, such as your intestines, more likely. 
  • Pregnancy issues. If you're expecting, extra support will be key since you have a higher risk of premature labor (having your baby before your due date), as well as a collapsed or torn bladder or uterus.

It's important to work closely with your doctor and other providers to manage your symptoms. They can also suggest many ways to support you through your day-to-day life. For instance, you might find it helpful to:

  • Use soft-bristled brushes to brush your teeth.
  • Use gentle soaps and apply daily sunscreen to protect your skin.
  • Choose thick pens or pencils to write to ease the strain on your fingers.
  • Wear protective clothing or pads over your knees and elbows to prevent bruising or cuts.
  • Avoid contact sports and high-impact exercises such as running or skiing.
  • Avoid heavy lifting.
  • Talk to a therapist or counselor, or join a support group. It might help you deal better with the changes in your life.

If you're thinking about starting a family, a genetic counselor can help you understand if you'll pass EDS on to your baby.

Ehlers-Danlos Syndrome is a lifelong condition. You'll need to manage your symptoms and take extra steps to prevent injuries. Working closely with your doctor is key to a healthy life.

Can you live with EDS and not know it?

EDS affects your entire body. Its symptoms overlap with a lot of other conditions. And some of those, such as pain and feeling tired all the time, can't be measured by a test. Because of that, EDS can be difficult to diagnose. Some people see many different doctors before they find out they have it.

What is the life expectancy of someone with EDS?

With most kinds of EDS, your life expectancy isn't different than someone who doesn't have the condition. Vascular EDS is one type that can raise your risk for life-threatening complications such as stroke. But your doctor can help you understand what you can do to stay healthy and the warning signs to look out for.