What Are Ehlers-Danlos Syndromes?

The Ehlers-Danlos syndromes (EDS) are rare, inherited connective tissue disorders that can affect skin, joints, blood vessels, and organs. Connective tissues are structures made of collagen and elastin, proteins that connect parts of the body. So “connective tissue disorder” is a broad term for any disease that affects connective tissues. EDS falls under this umbrella. 

In the past, we thought EDS affected about 1 in 5,000 people. But new data show that some types of EDS may affect more people than that. That’s because healthcare providers are getting better at diagnosing it. Still, rarer types of EDS might only affect 1 in a million people. 

In this article, we discuss the causes, symptoms, diagnosis, and treatment of EDS. 

What causes Ehlers-Danlos syndromes?

EDS are genetic disorders. Genes are passed down to us from our birth parents. They’re the instruction manuals for building our bodies. Sometimes, changes in genes (mutations) can alter the instructions enough such that parts of the body turn out different than expected. In EDS, mutations in the genes for collagen and elastin lead to skin, blood vessels, and joints that are more flexible or fragile than normal.

Of note, if one of your birth parents has EDS, it doesn’t automatically mean that you will have EDS. Depending on what kind of gene mutation they have, your chances of getting EDS may be anywhere from 0% to 100%. The chances are higher if both of your birth parents have EDS.

What parts of the body do Ehlers-Danlos syndromes affect?

There are 13 different known types of EDS (more below). But in general all types have three things in common: 

1. Overly flexible joints 

2. Stretchy, soft, or thin skin

3. Tissues and organs that are more fragile than normal

This is because collagen and elastin — the proteins that can be abnormal in EDS — are the building blocks of joints, skin, and tissues. 

All types of EDS commonly affect joints and skin. Symptoms can include:

• Joints: overly flexible joints, dislocation (popping out of place), flat feet, pain (widespread or localized to specific joints and muscles)

• Skin: velvety or thin skin, stretchy skin, bruising, slow wound healing with wrinkly scars that widen over time

EDS can affect other body parts, although this is less common. But it can be more serious when EDS affects other areas, such as: 

• Internal organs: organ rupture (breaking apart), hernias (weakness of the wall that holds in organs), organ prolapse (slipping out of place)

• Spine: curving of the spine (scoliosis)

• Eyes: nearsightedness, detachment of the retina (back part of the eye)

• Mouth: crowded teeth, inflamed gums (periodontitis)

• Heart and blood vessels: abnormal heart valves, widening of arteries (aneurysms)

• Gut: irritable bowel syndrome, rectal prolapse

• Nerves: postural orthostatic tachycardia syndrome (POTS), which causes lightheadedness and fast heartbeat with standing

• Lungs: collapsed lung (pneumothorax) 

What are the different types of Ehlers-Danlos syndromes?

Scientists have identified 13 types of EDS. They all lead to joint hypermobility, stretchy skin, and fragile tissues. 

Some examples of EDS types include:

• Hypermobile EDS (most common): There’s not a genetic test that can diagnose this type of EDS yet (but there are genetic tests for the other types). So diagnosis depends on someone having many symptoms of hypermobile EDS. For example, some of the criteria are overly flexible joints, various skin abnormalities, and chronic, widespread pain.

• Classical EDS: The most common symptoms are stretchy skin, abnormal scarring, and flexible joints.

• Vascular EDS (most serious): Vascular EDS mainly affects the blood vessels and organs, making them more fragile than normal. Structures like the bowels or arteries may rupture (break apart) for no reason. The uterus may rupture during the third trimester of pregnancy. In case of emergency, people with vascular EDS should wear a medical alert bracelet or have up-to-date health information on a mobile phone. This is so healthcare providers are aware of your diagnosis right away.

How do you diagnose Ehlers-Danlos syndromes?

Diagnosing EDS can be tricky since they aren’t very common. And another set of conditions — hypermobility spectrum disorders — can cause overly flexible joints, too. But they don’t cause the skin and tissue issues that EDS does. 

If you have symptoms or family history of EDS, your primary care provider may refer you to a specialist (like a rheumatologist or clinical geneticist) to make the diagnosis. The specialist will ask questions about your symptoms and family history. They will also examine your skin and perform tests to look for joints that are more flexible than normal. 

Your symptoms, family history, and physical exam will determine if EDS is a possibility. To confirm the diagnosis, you’ll need to do genetic testing — blood tests that look for gene mutations that cause EDS. Genetic testing is helpful because it: 

• Confirms the diagnosis of EDS and determines what type you have 

• Provides information about what symptoms or complications you and your provider should look out for in the future

• Gives information about the likelihood of passing on the gene to your children (if you choose to have them) 

What are the treatment options for Ehlers-Danlos syndromes?

There’s no cure for EDS, and experts are still working on creating treatment guidelines. But there are treatments that can help. If possible, it’s best to find a provider who specializes in EDS treatment.

Treatment of EDS has four main goals:

1. Controlling symptoms 

Physical therapy (PT) is the most important part of EDS care. Studies show that PT improves pain and quality of life for people who have hypermobile EDS. It can help other types of EDS, too. 

Physical therapists and occupational therapists assess how your body moves. Then they recommend strategies to decrease pain and improve the way your body moves. Medications (like nonsteroidal anti-inflammatory drugs), cognitive behavioral therapy, and assistive devices (like braces) can help with pain, too. 

2. Preventing injury

Sometimes prevention is the best medicine. There are a number of ways to prevent injuries from happening when you have EDS:

• Learn joint protection strategies from physical and occupational therapists that help avoid injury (like dislocation).

• Avoid certain contact sports and high-impact activities that might cause injury.

• If you’re having surgery or giving birth, make sure your providers know about your EDS. You and your team can take extra precautions to improve wound healing after procedures.

3. Understanding potential complications 

Education is power. It’s not always possible to prevent complications of EDS. But when you’re aware of what they are, you have the power to act on your symptoms and get help sooner. 

For example, if you’re pregnant or planning to become pregnant, tell your obstetrician (OB) about your EDS. You and your care team may need to take extra precautions to keep you and your baby safe. The same is true if you’re having surgery — tell your surgeon about your EDS. Extra bleeding or slow wound healing might occur, but there are steps to keep you safe.

Lastly, watch for “warning” symptoms that need immediate medical attention, especially if you have vascular EDS. These symptoms include:

• Sudden difficulty breathing 

• Sudden, severe pain (chest pain, abdominal pain, headache)

• Severe bleeding from the vagina, rectum, or wounds

• Sudden vision loss

• Loss of consciousness (passing out)

4. Getting support and caring for your mental well-being

Living with a chronic condition is hard, especially when there’s pain. Leaning on family, friends, or support groups can help. A mental health professional, such as a therapist, can also be a valuable part of your team.

How serious is Ehlers-Danlos syndrome, and what is the prognosis?

It depends on what type of EDS you have. Most types of EDS can affect your quality of life, but not how long you live. However, the potential for life-threatening complications may shorten the lifespan for people with vascular EDS. 

Why trust our experts?

Written by:

Samantha C. Shapiro, MD

Samantha Shapiro, MD, is a board-certified rheumatologist and internist with expertise in autoimmune and inflammatory conditions. She founded the division of rheumatology at Dell Medical School at The University of Texas at Austin.

Edited by:

Mandy Armitage, MD

Mandy Armitage, MD, has combined her interests in clinical medicine with her passion for education and content development for many years. She served as medical director for the health technology companies HealthLoop (now Get Well) and Doximity.

Our editorial standards

Meet our experts