Ehlers-Danlos Syndrome: “The Most Neglected Disorder in Modern Medicine”

An invisible illness affecting 255 million people worldwide, Ehlers-Danlos Syndrome is a debilitating disease without a cure. Here’s what you need to know about this challenging condition.

ehlers-danlos syndrome

Fatigue is one of many symptoms of Ehlers-Danlos syndrome.

© Fizkes | Dreamstime.com

One warm day last fall, my son begged me to play soccer with him in the backyard. More often than not, I have to say “no” to these daily requests because my body won’t let me join in the fun. That day, though, I was feeling pretty good. The daily pain I experience from my Ehlers-Danlos Syndrome (EDS) usually tips the scales between a 7 and 10, but it was down to a 3. So my son and I ran around the yard for 30 minutes, a huge smile beaming on his face. When it was time for dinner, he sprinted into the house while I limped slowly behind. I’d been crutches-free for almost four months before this game (a small victory for me), but this little match put them back in my hands for another two weeks.

A DIFFICULT DIAGNOSIS

According to the Ehlers-Danlos Society, EDS is “the most neglected disorder in modern medicine.” Those with EDS often suffer for years—feeling unsupported, disbelieved and alone before finally finding help.

I have hypermobile Ehlers-Danlos Syndrome, one of 13 types of this condition that affects connective tissues. It leaves me in chronic pain with hypermobile joints that are prone to dislocations. To help me stay stable, I often use a variety of aids—from wrist, elbow, knee, and ankle braces to a sling, crutches, or a cane. In the past six years, I’ve undergone five surgeries to help tighten ligaments and repair tears.

Ehlers-Danlos Syndrome is an invisible disease, which means those who suffer from it look “fine” on the outside. Behind the chronic pain and dislocations, many feel this is the toughest part about living with EDS. Because we look healthy, our symptoms are often disregarded or shrugged off as inconsequential. The result: It can take years (26 for me, up to 60 for others) to procure a diagnosis.

What exactly is Ehlers-Danlos Syndrome, and is it curable? Read on to learn more.

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What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndromes are a group of 13 inherited disorders that affect connective tissues (collagen, in particular). Think of these tissues as a form of glue. They provide strength and support to our skin, bones, digestive system, blood vessels, and other organs. They also support the tissues (i.e., ligaments, cartilage, and tendons) in and around our joints.

In a person with EDS, the connective tissues are extremely loose, meaning they don’t hold things as stable as they should, leaving them able to stretch far beyond the normal range. The result: frequent dislocations, subluxations (partial dislocations), torn ligaments and tendons, chronic pain, fatigue, instability and, sometimes, life-threatening complications such as the rupture of large arteries.

Those suffering from EDS most often present with soft, stretchy, easily-bruised skin, hypermobile joints, and poor wound-healing. While symptoms overlap for the various types, it would be extremely rare for a person to suffer from more than one form of the condition.

ehlers-danlos syndrome author shandley mcmurray

Our author, Shandley McMurray, following shoulder stabilization surgery. Most people with Ehlers Danlos Syndrome are so hypermobile they suffer from frequent subluxations and dislocations which can cause other damage such as torn tendons.

Ehlers-Danlos Syndrome Affects Multiple Parts of the Body

The effects of Ehlers-Danlos Syndrome can be multi-systemic, which means shoddy connective tissues can cause problems in various parts of the body. Everything including the eyes, jaw, heart, gut, mouth, joints, spine, and skin can be affected. Other complaints include (but are not limited to) sleep problems, chronic pain, neurological issues, and chronic fatigue.

Ehlers-Danlos Syndrome Is Linked to Other Conditions

Since connective tissues exist in our skin and internal organs, some people with EDS suffer problems in their gastrointestinal systems, bladder, and autonomic nervous system (the control system that monitors such functions as our heart rate, digestion, and respiratory rate).

Many of those with EDS also suffer from comorbidities (the presence of two or more chronic diseases at a time) such as postural orthostatic tachycardia syndrome (POTS), psoriasis, chronic migraines, rheumatoid arthritis, Reynaud’s disease, chronic fatigue syndrome, and fibromyalgia, although more research is needed to prove the connection between these conditions and EDS.

Ehlers-Danlos Syndrome Is Genetic

EDS is highly heritable, which means it’s passed down through families. Those with the condition have a 50 percent chance of gifting it to their kids. Each affected relative experiences his or her own unique symptoms, which can vary from mild to severe.

It’s extremely unlikely to pass a different type of the disease down the line. For instance, people with hypermobile EDS will not pass vascular EDS to their children.

Who Has Ehlers-Danlos Syndrome?

According to the Genetics Home Reference, Ehlers-Danlos Syndromes affect 1 in 5,000 people worldwide. Hypermobile EDS (referred to as hEDS) is the most common form, affecting between 1 in 5,000 to 20,000 people. The classical type of EDS targets 1 in 20,000 to 40,000 people. That said, EDS is gravely underdiagnosed, likely due to a lack of knowledge and understanding about this condition in the medical profession, so actual numbers may be much higher.

In a recent paper published in the American Journal of Medical Genetics, researchers stated, “The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common systemic inherited connective tissue disorder in humans.” They also claimed that hEDS affects 255 million people worldwide, 10 million of whom live in the US.

How is Ehlers-Danlos Syndrome Treated?

“Ehlers-Danlos Syndrome is managed by treating the individual symptoms, such as pain. Patients often need to see a variety of doctors including an orthopedic surgeon, rheumatologist and dermatologist,” explains Dr. Leonaura Rhodes, a Connecticut-based physician, contributor to University Health News and fellow EDS sufferer.

Since EDS affects so many parts of the body, each symptom must be treated separately. Physiotherapy is important to strengthen muscles around the joints to reduce the risk of dislocations. In some cases, surgery is also advisable to repair and possibly tighten damaged joints. Surgery can be risky for those with EDS due to poor wound-healing, excessive scarring, and the high risk of arterial rupture, so it should be considered carefully with the help of a medical practitioner who is well-versed in the condition.

Altering a person’s nutrition regimen can be beneficial for those suffering from gastrointestinal complaints and can help reduce joint pain and inflammation. Pain medications can also be useful, but it’s important to see a medical professional to find out which meds work best. It may be essential to avoid contact sports such as rugby, hockey, and football.

Is There a Cure for Ehlers-Danlos Syndrome?

There is currently no cure for EDS. Treatments such as physical therapy, targeted exercises, and pain relief medication can help manage symptoms.

How Is Ehlers-Danlos Syndrome Diagnosed?

Diagnosing EDS is no breeze. “Although there is a wealth of information easily accessible, it can still take a very long time [often more than 20 years] before the penny drops and someone recognizes the diagnosis and points the individual in the right directions for help,” says Dr. Alan J. Hakim, a London-based rheumatologist and acute physician as well as guru in the EDS field. “Even then, there can be reluctance among some—family members and medical personnel alike—to acknowledge the syndrome, the depth and breadth of its insult, and the psychosocial impact on an individual’s well-being.”

In March 2017, an international consortium of more than 90 EDS experts published new diagnostic criteria along with management and care guidelines in the American Journal of Medical Genetics. Diagnosis now includes measuring the hypermobility of multiple joints based on the Beighton Score (a 9-point system that measures joint laxity and hypermobility), discovering an immediate family history of the disorder, and finding widespread symptoms throughout the body, among other qualifications.

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Comments
  • Thank you for putting up articles like this. I have hEDS and it’s tiring, stressful and sad to explain to people over and over and over again why I am in pain all the time, why I don’t want to walk somewhere and prefer to take an uber or taxi. It’s hard to explain why I am tired even though I have done “nothing” or have just woken up. It’s tiring and hard to explain to people that going to the gym is not possible for me as I leave in a lot of pain and can’t walk two days afterwards because of it – and not because of the “normal” muscle pain from exercise, but because of the added pain of the syndrome.

  • Diane B.

    Thank you for providing this information at almost 72 years of age, if it not for a child of our youth pastor and his wife I would never have even known about this. This gives me a better insight as to how pervasive EDS is around the world!

  • Thank you so much for this post. I’m sharing it to help raise awareness and understanding of my condition. It only took 62 years to discover I had hEDS. I’m positive my mom had it too only to pass away at age 93 never knowing what the cause behind all of her symptoms was.

  • Tamar A.

    Keratoconus is also present in many people with EDS. Please, have your eyes checked!

  • Erica S.

    It is so overwhelming to see articles like this that acknowledge more needs to be done to recognise this condition.
    My mum and nan suffered for years with undiagnosed pain and other problems and I had to hound my gp to take me seriously. I’m learning more about this condition everyday which helps me cope, and have recognised it in 2 if my 3 children, hopefully the medical profession will gain more knowledge and know how to treat my children and future generations so no one else needs to suffer unnecessarily.
    Thank you UHN for being our voice

  • This was an amazing article. I discovered I had hEDS a year ago and am slowly realising how all these little things I thought were ‘normal’ to deal with actually fall under the syndrome. Im also currently in my final year of my degree in contour fashion and I’m doing my final major project based around invisible disabilities called “but your fine” which is surrounding how invalidating that comment is. I want to be able to really learn real people’s opinions and feelings on their invisible disabilities. It would be super duper helpful for me if anyone who reals like they relate to this could fill out this survey about invisible disabilities for me
    https://www.surveymonkey.co.uk/r/K83DGKH
    After reading the statistics in this article I feel like this is an even bigger thing than I imagined and I am very passionate about giving real peoples problems a voice and hopefully show more people simple things they can do to help their symptoms in the form of clothing/medical aids.

    Tia Chand-Corey

  • Debra D.

    I dislocated a rib this morning. After an hour of only being able to take very shallow breaths in lots of pain, it finally went back in place on its own but left my muscles knotted up and very sore. Thankfully I had a massage this morning with my massage therapist who also has Ehlers-Danlos Syndrome and she was able to work on my knotted up muscles. Her same rib went out not long ago. Did either of us go to the Dr? Of course not. Bones dislocating is unfortunately our “normal”. We then talked about our collection of braces we have in our closets for our dislocations, braces for ankles, knees, hips, wrists, fingers, shoulders, and even back braces. Then we talked about our dislocating ankles! We both suffer from very frequent migraines, also a part of EDS. Only a person with EDS can truly understand the scope of the pain that accompanies this genetic disorder. Drs are just not helpful so we just don’t go to them. Besides, it would cost us a fortune to go to a doctor every time we dislocate something! We’ve had a lifetime of practice setting our own joints back in place!

    It’s such a rare genetic disorder that it is amazing that i have two friends who are not related and all three of us have EDS. I consider it a huge blessing, to have friends who have the same rare genetic condition. We truly do know what each other is going through and can commiserate and even laugh at our own mishaps together! Most of my online friends in the Ehlers-Danlos Community facebook groups have never met anyone other than their own family members with this rare genetic Syndrome that is ignored by the vast majority of doctors.

  • Samantha v.

    I really can find myself in This story✌🏼😪 I have bin dianogest for 6 years now, and the problems are getting wors and wors butt nobody , seem to care they say its eds deel whit itt here is Some extra pain medication and go on😱🤯
    Now I dont even go to the doctor anymore because there all working against eigthouger instead of togheter.
    They dont know what to do whit me 🤯
    And Im getting sick and tyerd off itt.
    I still walk and trying to life my live the fullist as I can.
    Butt my back is already collabeds 5 times.
    Unfortianaly there are suspissions that I have 2 types eds 3 is the dominant one and type 1 is not sure butt they say itts going to look like itt.

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