Ehlers-Danlos syndrome

Diagnosis

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.

Treatment

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.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Self-care

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.

Coping and support

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.

Preparing for your appointment

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?