Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of inherited conditions that affect the body's connective tissues. These tissues provide support and give flexibility to the skin, joints, blood vessels and organs.

There are 13 types of Ehlers-Danlos syndrome. The most common types cause very flexible joints, fragile skin, and a higher risk of bruising and injury. Symptoms typically can be managed.

But some rare forms can lead to life-threatening health issues. The most serious is vascular EDS, which affects blood vessels and can lead to sudden ruptures. Because vascular EDS may cause serious complications during pregnancy, experts recommend that you see a genetic counselor before starting a family.

There is no cure for Ehlers-Danlos syndrome, but treatment can help manage symptoms and lessen complications.

Symptoms of Ehlers-Danlos syndrome typically begin in childhood, but this can vary depending on the type of EDS a person has. Some types can show symptoms as early as infancy, while others may not become noticeable until later in life.

The most common types of EDS are hypermobile Ehlers-Danlos syndrome (hEDS) and classical EDS. These types account for about 90% of people diagnosed with EDS. For these and most other types of Ehlers-Danlos syndrome, symptoms may include:

• Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the usual range of motion. Joint pain and dislocations are common.
• Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull up a pinch of skin away from your flesh, but it will snap right back into place when you let go. Your skin also might feel very soft and velvety.
• Fragile skin. Fragile skin is thin and often doesn't heal well. For example, the stitches used to close a wound often tear out, leaving a gaping scar. These scars may look thin and crinkly.

Musculoskeletal pain is common in people who have overly flexible joints as a symptom of EDS. Musculoskeletal pain is pain that affects the muscles, bones, joints, ligaments or tendons. These are the parts of the body that help you move and stay upright. This type of pain can feel like aching, stiffness or soreness.

Vision loss, typically appearing suddenly as blind spots or silvery flashes, may be a symptom of an EDS complication.

Some forms of EDS can lead to more-serious health concerns. People with vascular EDS, a rare but severe type, are at risk of sudden and dangerous complications. In this form of EDS, the walls of large blood vessels — including the aorta, the main artery that carries blood from the heart to the body — can weaken and tear or rupture. This can cause life-threatening internal bleeding.

Other arteries, as well as organs such as the intestines, uterus, or spleen, also may rupture without warning. For people with vascular EDS, pregnancy increases the risk of uterine rupture.

Because many of the complications of EDS can happen without symptoms, regular monitoring is important. All people with EDS should have baseline heart and eye exams, including an ultrasound of the heart, called an echocardiogram. A baseline exam is a set of tests and checkups that gives your healthcare team a clear picture of your current health. This helps detect symptoms such as heart valve issues or blood vessel changes early. Your care team recommends how often to repeat these tests based on your EDS type and symptoms.

If you develop new symptoms, such as back or neck pain, a curved spine, or signs of nerve issues, such as numbness or tingling, your care team may refer you to a specialist for further evaluation.

People who have vascular Ehlers-Danlos syndrome often share the distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In people with light skin, the underlying blood vessels are very visible through the skin.

When to see a doctor

If you or your child has very flexible joints along with skin or healing issues, frequent joint dislocations, unexplained bruising or unusual scars, or a family history of Ehlers-Danlos syndrome, talk with your healthcare professional about your concerns.

Also talk with your healthcare professional if you're planning a pregnancy and have a family history of vascular EDS or other connective tissue disease.

People with EDS should get medical help right away if they experience:

• Sudden pain or bleeding that they can't explain.
• Chest pain.
• Trouble breathing.
• Sudden dizziness or fainting when standing.
• Sudden changes in vision, such as flashes of light or dark spots.

Ehlers-Danlos syndrome typically is caused by changes in certain genes that affect connective tissue. Different types of EDS are linked to different genes. These gene changes can affect how your body makes or uses collagen, a key protein that gives strength and structure to skin, joints and organs.

Most types of EDS are inherited. This means the gene change is passed from a parent to a child. For example, if you have hypermobile EDS, there's a 50% chance that you will pass it to each of your children. However, sometimes a gene change can happen for the first time in a person with no family history.

While other types of EDS have been linked to specific genes, the genetic cause of hypermobile EDS is not fully understood. No specific gene has been clearly linked to this type. So hEDS is often diagnosed based on other symptoms rather than on the results of a genetic test.

The main risk factor for most types of Ehlers-Danlos syndrome is having a family history of the condition. If a parent has a form of EDS, the children have a higher chance of inheriting the condition.

Because many types of EDS are inherited, genetic counseling can help people understand their chances of passing EDS to their children and decide whether genetic testing is right for them.

Complications of Ehlers-Danlos syndrome depend on the types of symptoms a person has. For example, very flexible joints can lead to frequent dislocations and an earlier risk of developing arthritis. Fragile skin may tear easily and leave scars.

People with vascular EDS, a rare and serious type, are at risk of serious complications. The walls of large blood vessels can become weak and rupture. One of the most serious ruptures affects the aorta, which is the largest blood vessel in the body. The aorta carries blood from the heart to the rest of the body. If it tears or bursts, it can cause internal bleeding. It can be life-threatening. Other blood vessels and organs, such as the intestines or uterus, also can rupture. This can happen suddenly and without warning. Pregnancy increases the risk of a uterine rupture for people with this type of EDS.

If you have Ehlers-Danlos syndrome or a family history of the condition and you're thinking about having children, consider talking with a genetic counselor. Genetic counselors are healthcare professionals who help people understand how conditions such as EDS run in families. They can explain the type of EDS you have, how likely it is to be inherited, and what that might mean for you and your future children.

A healthcare professional typically diagnoses Ehlers-Danlos syndrome after they learn about your health and family history and doing a physical exam. They ask about your symptoms, such as joint pain, very flexible joints or stretchy skin. You also may be asked whether other people in your family have similar issues.

Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. For some types of EDS, a blood test or saliva test can help find a change in a gene that causes the condition. This is called genetic testing.

For hypermobile Ehlers-Danlos syndrome, the most common form, there is no genetic testing available. Your care team uses your symptoms and exam results to diagnose this form of EDS.

There is no cure for Ehlers-Danlos syndrome, but treatment can help you manage symptoms and lessen the risk of serious complications.

Your care plan depends on the type of EDS you have and your individual needs. Treatment may include physical therapy, healthy life changes and pain management. You may be referred to specialists such as genetic counselors, occupational therapists, mental health therapists and rehabilitation therapists.

Medications

Your healthcare professional may prescribe medicine to help you manage:

• Pain. Pain relievers you buy without a prescription, such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve), typically are used to ease pain. Stronger pain medicine usually is only prescribed for short-term use after an injury.
• Blood pressure. Because blood vessels are more fragile in some types of EDS, keeping blood pressure low can lessen the strain on arteries and help prevent complications.

Physical therapy

People with EDS have weaker connective tissue, which makes joints more likely to dislocate. Physical therapy focuses on strengthening the muscles around the joints to make them more stable. A physical therapist also may suggest braces or supports to help prevent injuries.

Surgery or other procedures

Surgery may be needed to repair damaged joints or, rarely, ruptured vessels or organs, especially in vascular EDS. However, healing after surgery can be difficult because the skin and tissue may be too fragile to hold stitches well.

If you have Ehlers-Danlos syndrome, protecting your joints and avoiding injury is important. Here are some simple ways to stay safe:

• Choose low-impact activities. Good options include walking, swimming, tai chi, gentle biking, or using an elliptical machine or a stationary bike. Avoid contact sports, weightlifting and other activities that put extra strain on your hips, knees and ankles.
• Rest your jaw. To protect your jaw joint, avoid chewing gum and hard foods such as ice or crusty bread. Take breaks during long dental visits so you can close your mouth and rest your jaw.
• Wear the right shoes. Supportive footwear, such as laced boots with good arch support, can help prevent ankle sprains and give you better stability. Talk with your care team about whether supportive shoe inserts are right for you.
• Support your joints during sleep. Use a body pillow or a firm mattress with extra cushioning to lessen joint pain. Sleeping on your side also may help.

Living with a lifelong condition such as Ehlers-Danlos syndrome can be hard. You may face challenges at home, at work or in your relationships. Here are some things that may help:

• Learn about your condition. The more you know about EDS, the better you can manage it. Find a healthcare professional who has experience treating people with EDS.
• Talk with others. Let your family, friends and employer know about your condition. If you need help or changes at work, ask your employer about adjustments that could make your job easier.
• Build a support system. Stay close to people who are kind and supportive. Talking with a counselor, therapist or faith leader also may help. Support groups, either in person or online, can connect you with others who understand what you're going through and can offer support and helpful tips.

Helping your child cope

If your child has Ehlers-Danlos syndrome, here are some ways to be supportive:

• Treat your child like other children. Try to keep daily life as normal as possible. Ask other adults, such as grandparents, aunts, uncles, teachers and coaches, to do the same.
• Let your child share feelings. It's OK for your child to feel frustrated, angry or upset. Let them talk about feelings and listen with care. Make sure caregivers and teachers know about the condition and understand what to do if your child gets hurt. Review with them proper caregiving skills, particularly in the event of a fall or an injury.
• Encourage safe activities. Help your child stay active by choosing activities that are easy on the joints, such as swimming. Avoid contact sports but talk with your child’s healthcare professional or physical therapists about what's safe and fun.

You likely start by talking with your regular healthcare professional. They may refer you to a specialist who focuses on genetic conditions.

What you can do

Before your appointment, it can help to write down:

• What symptoms you've been having and when they started.
• Whether any blood relatives, such as parents, grandparents or siblings, have had similar symptoms.
• If any blood relatives have died from a blood vessel or organ rupture.
• All medicines and supplements you take regularly.

What to expect from your doctor

Your healthcare professional may ask questions such as:

• Are any of your joints very flexible?
• Is your skin extra stretchy?
• Do you heal slowly or have wide scars after injuries?