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Elizabeth Linden

Ehlers-Danlos Syndrome:

a rare and complicated syndrome

by Elizabeth Linden

Ehlers-Danlos Syndrome (EDS) is both a rare and complicated syndrome for many reasons. First, it is not even a single syndrome. It is a group of 13 syndromes each with its own diagnostic criteria, symptoms, and treatments. As a group, they do have a few things in common. They are all inherited connective tissue disorders caused by a defect in the synthesis of collagen and they all cause chronic pain. 

Some people with the most common type of EDS (Hypbermobile EDS) have made a living out of their disease as contortionists due to their unique flexibility. For example, Daniel Browning Smith (otherwise known as ‘Rubber Boy’) has made a career out of his amazing flexibility. He has been featured in Men in Black II and CSI Las Vegas. He also proudly holds the Guinness World Record as the most flexible person.

Then there is the story of Mike DeCoursey whose father died of an aortic dissection at a young age. When Mike had a child of his own, the mystery surrounding his father's death began to unravel. Mike’s son, Alex, started aspiring milk and had to be put on a feeding tube after birth. Alex’s pediatrician thought it was important to find the cause of Alex’s issues. Through genetic testing, they found that Alex (like his grandfather) was born with Vascular Ehlers-Danlos Syndrome (VEDS). This is the most serious form of EDS and can cause aneurysms, organ ruptures, and dissections. Unfortunately, it can be life-threatening. As it turned out, Mike also had VEDS and suffered an acute dissection of his right iliac artery. Mike was fortunate to make it out of surgery alive. Now he has turned his misfortune into an opportunity to help others by raising funds for the VEDS community. You can read more about his mission at walkwithdeco.com

What is the Ehlers-Danlos Syndrome? 

As previously stated, EDS is not a single syndrome. It is a group of 13 syndromes. As a group, what they have in common is that they are all inherited connective tissue disorders, caused by a defect in the synthesis of collagen. There are over twenty genes responsible for causing the 13 types of Ehlers-Danlos syndromes and there is no cure. In addition, for those afflicted, regardless of the type of Ehlers-Danlos Syndrome they have, it affects multiple organs, joints, ligaments, blood vessels, skin, and the gastrointestinal tract to varying degrees. In addition, each of the 13 syndromes has its own set of diagnostic set of criteria. Some features such as hypermobility, skin hyperextensibility, and tissue fragility are seen across all 13 EDS syndromes. This rare condition is not easy to diagnose due to its rarity and the fact that symptoms can be confused with other diseases or disorders. It is estimated that EDS occurs in 1% of the population but many people may go undiagnosed for years. In addition, diagnostic features such as hypermobility are common in EDS patients but are also seen in 10% of the general population who do not have the syndrome. For a detailed description of all 13 types of EDS, visit the Ehlers-Danlos Society webpage at https://www.ehlers-danlos.com/eds-types/

What is joint hypermobility?

Joint hypermobility means that a person’s joints have a greater range of motion than what is expected or usual. Joint hypermobility is measured by the Beighton Scoring System. In addition to using a physical assessment, a doctor may also ask the following questions:

1. Can you now [or could you ever] place your hands flat on the floor without bending your knees?

2. Can you now [or could you ever] bend your thumb to touch your forearm?

3. As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?

4. As a child or teenager, did your kneecap or shoulder dislocate on more than one occasion?

5. Do you consider yourself “double-jointed”?

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What is skin hyperextensibility? 

Skin hyperextensibility means that the skin can be stretched beyond the normal range. Skin extensibility, or skin stretchiness, is measured by pinching and lifting the skin on the same side as the palm of the hand) at the middle of the non-dominant forearm. Skin is hyperextensible if it stretches greater than 1.5 cm. 

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People with EDS may also have other skin characteristics and symptoms. Their skin may be unusually thin to the point that you can see blood vessels, or their skin may have an unusual texture. They may bruise very easily and their wounds may heal slowly and have abnormal scarring. Some may like the added benefit of looking very young for their age because their skin has fewer wrinkles. However, not everyone with EDS has skin hyperextensibility or unusual skin characteristics.  

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What is tissue fragility? 

Tissue fragility means the body’s organs and other structures are more vulnerable to damage. Tissue fragility can present itself as poor wound healing in many types of EDS. Some types of EDS can also cause severe fragility in the skin, blood vessels, abdominal organs, eyes, gums, and bones.  

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Tips for caring for yourself if you have EDS

If you have Ehlers-Danlos syndrome, it's important to prevent injuries. Here are a few things you can do to safeguard yourself.

• Choose sports wisely. Walking, swimming, tai chi, recreational biking, or using an elliptical machine or a stationary bike are all good choices. Avoid contact sports, weightlifting, and other activities that increase your risk of injury. Minimize stress on your hips, knees, and ankles.

• Rest your jaw. To protect your jaw joint, avoid chewing gum, hard rolls, and ice. 

• Wear supportive shoes. To help prevent ankle sprains, wear laced boots with good arch support.

• Improve sleep. Body pillows and super-dense foam mattresses can provide support and cushioning for painful joints. Sleeping on your side may also help.

Coping and support

Coping with a lifelong illness is mentally and physically challenging. Depending on the severity of your symptoms, you may face challenges at home, work, and in your relationships. Here are just a few suggestions to help you manage the physical pain and emotional burden of EDS. 

• Increase your knowledge. Knowing more about Ehlers-Danlos syndrome can help you take control of your condition. Find a doctor who's experienced in the management of this syndrome.

• Tell others. Explain your condition to family members, friends, and your employer. Ask your employer about accommodations that you may need in order to prevent injuries and be more productive on the job. 

• Build a support system.  Build relationships with family and friends who are positive and caring. It also may help to talk to a therapist and join a pain management support group. 

Elizabeth Linden is a retired special education teacher with 25 years of experience. She has a bachelor’s degree in Special Education and a master’s degree in Health Psychology. Liz has been an advocate for the educational needs of special education students throughout her career as well as an advocate for her own medical needs as a person with a rare headache disorder.  Liz is also a Senior Anchor with The Power of the Patient Project, and her interviews are featured throughout our digital library.

March 2023  page 6