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Ehlers-Danlos Syndrome: Is it as Rare as You Think?

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Ehlers-Danlos syndrome (EDS) is a collection of genetic (inherited) connective tissue disorders that have been identified as belonging to 13 distinctive subtypes, commonly referred to simply as “types,” as stated by The Ehlers-Danlos Society

Characteristics of EDS

All these types have certain characteristics in common, such as: 

  • Joint laxity/hypermobility  
  • Joint subluxations and dislocations
  • Skin softness and fragility 
  • Chronic and debilitating pain
  • Organ dysfunction
  • Organ prolapse
  • Weakness and dysfunction in other systems and tissues of the body

EDS and Families

I am personally most familiar with Hypermobility type (hEDS), which I have, along with several other members of my family. Although I have lived with the symptoms my whole life, I wasn’t diagnosed until 2015. Though EDS can be inherited in an autosomal-dominant or autosomal-recessive pattern, hEDS tends to be an autosomal-dominant genetic mutation, meaning that if one parent has it, each child has a 50% chance of inheriting the disorder, too.

In regards to the genetic nature of the syndrome, both my children have it. Out of my family of seven siblings, one sister has also been diagnosed with hEDS, and two others share our symptoms — our mother also had all the major symptoms but was never diagnosed. 

Types of EDS, such as Vascular EDS (vEDS) and Classical type (cEDS), are of the most concern in the medical community because they can have serious or fatal outcomes. While hEDS is considered benign by the medical profession, it can be extremely painful, and go hand in hand with comorbidities like depression and suicide risk, a tendency toward cancer, neurological issues, POTS (postural orthostatic tachycardia syndrome), and autoimmune disorders — all of which can have life-altering consequences. EDS can also overlap with chronic illnesses like ME/CFS (myalgic encephalomyelitis/chronic fatigue syndrome), fibromyalgia, and Lyme disease.  

EDS and the Medical Community

Aside from specialists, the medical community’s knowledge in this area is sparse. There are relatively few doctors who are educated beyond a cursory medical school description of all the types of EDS as a unit, usually focusing on vascular or classical, demonstrating textbook cases of an individual with stretchy skin or a hypermobile person contorted into a pose unattainable by the average person. This in no way explores the vast spectrum of disorder encompassed by EDS, nor does it prepare the average doctor to deal with the symptoms or accurately assess, evaluate, and refer patients. In part, this apparent medical disinterest may be due to the rarity of the condition, affecting less than 1% of the population. The Ehlers-Danlos Society puts the prevalence of EDS at about .04% or lower (1 in 2,500 to 1 in 5,000 people), which adds up to roughly 759 million people worldwide. But EDS activists assert that there are increasing diagnoses, and the low reported occurrence of EDS may be due to misdiagnosis. A 2019 study in The British Journal of Medicine examined the possibility of underreporting, and the results were striking: They discovered that one in every 500 medical cases were some form of EDS. 

Everyday Struggles of Those with EDS

The narrow understanding of this unusual condition does not begin to touch on the reality of life, limitations, and everyday struggles for those with EDS. Symptoms and comorbidities can vary widely between EDS patients of the same type, and even between siblings. EDS has been referred to by some of my specialists as a “spectrum” disorder, with individuals at one end of the spectrum experiencing only minor symptoms. In contrast, those on the other end can be completely disabled, in constant pain, and can’t maintain joint stability without the use of braces. Many are housebound, in wheelchairs, and some are bedridden. Some must be on feeding tubes because of non-functioning gastrointestinal systems and reduced gut motility due to conditions like gastroparesis. 

Furthermore, the general lack of knowledge about this disorder creates an atmosphere of social isolation: The average person has never heard of EDS. Those who have often assume that EDS sufferers are hypochondriacs, attention seekers, or, quite commonly, that the illness is “all in their heads.” From the laughable malapropism,”Ehrlers-Danlers,” to “Ed’s,” (as in Ed’s disease), and “E.D.” (the acronym for erectile dysfunction), rarely is it even pronounced correctly.

Sadly, I’ve even encountered these blunders when dealing with medical professionals, and the accompanying misconceptions about the illness are more distressing when found in those we turn to for help. We often experience trivializing of our condition, or a denial that there is anything inherently serious in a diagnosis of EDS. Some common minimizing statements include:

“You’re just flexible. That’s a good thing!”
“You look fine to me.”
“Your labs indicate that you’re perfectly healthy.”
“It can’t be that bad.”
“So, you have some aches and pains?”
“There’s no reason you can’t live a normal, healthy life.”
“So, the other day you couldn’t get out of bed, but today you can do it?”

Those of us with EDS, who sometimes call ourselves “EDS-ers” or “Zebras” (Zebra being our symbol or mascot), are forced to deal with these assumptions and stigmas along with our already limiting and distressing condition. 

Triggers

Though present on a genetic level throughout an individual’s life, EDS can be noticeable at a young age, or be asymptomatic for years until triggered by several factors. These can include: 

  • A trauma
  • A traumatic or serious injury (to which we are more prone, due to weak tissue structures)
  • A severe illness or surgery
  • A drastic change in hormones, such as puberty, pregnancy, childbirth, or menopause

To date, EDS is considered a progressive illness, with worsening periods of severe flare-ups to the point that the flare-up no longer goes away. On the flip side, however, it can also go through “remissions” of sorts, where symptoms diminish, and quality of life improves. These are usually hard-won through excellent symptom management, but will occasionally be spontaneous.

Who Develops EDS?

An equal number of men and women are estimated to have EDS, but males are less frequently diagnosed. Since high muscle tone helps mitigate many of the joint, pain, and instability symptoms of EDS, one theory is that the higher muscle mass of active males helps them remain asymptomatic longer. EDS “disproportionately affects women,” suggest a Harvard Health article. Though, under-reporting of asymptomatic males or those with milder symptoms could be the reason for this observation. EDS seems equally prevalent in all races and ethnicities.

Testing 

While there are genetic tests available for other forms of EDS, there is currently no DNA test for hEDS, because the gene causing this particular type has yet to be isolated. Therefore, hEDS is diagnosed through a physical exam conducted by a rheumatologist or a clinical geneticist (preferably). Family and medical history are considered, and patients are usually tested for physical characteristics and given a score according to the Beighton scale whereby joints are assessed for hypermobility, and points are assigned based on a nine-point scale. 

It’s important to note that each type of EDS has its own clinical criteria, and most currently have some form of genetic testing to help clarify results between subtypes and other conditions that may present similarly. For instance, EDS symptoms are akin to many symptoms of autoimmune disorders, which can make things complicated, especially since autoimmune diseases are frequent comorbidities.

The medical community can appear reluctant to diagnose and treat Ehlers-Danlos syndromes, except for vEDS and cEDS, for the obvious reason that they can be fatal, while types such as hEDS are relatively benign. This tendency, along with limited literature on the subject, leaves few options for the individual who has been diagnosed and has the weighty but nebulous responsibility of managing their health. 

Treatment Options

Because of the persistent, chronic pain and social limitations, a person with EDS often experiences depression, and it may be accompanied by fear, anxiety, or anger. Self-care is essential for those with EDS, and most benefit from access to counseling or some form of mental health services.

Regardless of the type, if you’re newly diagnosed with EDS, it’s crucial to establish a medical team and a plan of care. Because EDS can manifest symptoms in any of the body’s systems, it is essential to monitor any signs of dysfunction throughout the body and have a doctor who is willing to make an appropriate referral should the need arise.

The general recommendations for EDS patients are as follows:

1. Monitor heart function: You should have an echocardiogram (ECHO) to assess baseline heart function and an occasional one after that.  

2. Add a neurologist to the team: Most likely, you’ll need a neurologist on your team, especially if you’re exhibiting symptoms like migraines, nerve twitching, convulsions, or seizures. 

3. Consider a qualified physical therapist: In my experience, standard physical therapy (PT) can often do more harm than good. So if you’re interested in PT, look for one who’s open-minded, versatile, willing to learn about your case, and be flexible in their approach. You may also find a therapist who’s training is with EDS or similar disorders Therapists who have worked successfully with autoimmune patients may be able to understand the nature of EDS because of similar physical limitations and potential for flare-ups from overexertion. If these options aren’t available, water PT (sometimes called aquatic PT or water therapy), can be helpful, especially in severe cases where standing and weight-bearing is difficult or impossible.

4. Eat a healthy diet: Dietary changes are also beneficial because of food sensitivities (likely caused by a weak GI system), and because of the inflammatory nature of many common foods (sugar, processed foods, dairy, etc.). A medical dietician can be of help isolating problematic foods. An anti-inflammatory diet can also mitigate flare-ups and joint discomfort. Many EDS-ers report doing well on the Paleo diet. Others do better eating Vegan. Still, others find improvement with a Mediterranean diet. 

As with the diversity of symptoms and types of EDS, it is important to realize that there is never a “one-size fits all” approach to treatment. Each individual must tailor the management of their health to their own needs, hopefully with the help of an informed medical team. At present, research is ongoing and continually discovering more about this group of disorders. But the more information we make available, the more the quality of life and treatment will improve for the hundreds of millions who suffer from EDS symptoms worldwide. 

Recommended Resources:

Website: The Ehlers-Danlos Society– provides information on the newest research, as well as support links to topics of interest for those diagnosed with EDS, or those who think they may have EDS.

Book: Joint Hypermobility Handbook– provides information on the physical and medical management of EDS.  

 


Marlane Quade Cook is a semi-retired teacher of classical ballet, visual artist, and freelance writer. She lives with her husband and children in Northwest Montana where she runs a community ballet program for local children and youth. She also teaches safe and therapeutic ballet classes for adults, specializing in working with students who have physical limitations. Her writing and artwork is featured on her blog: Inky Unkindness, and you can also follow her Facebook Page: Marlane’s Inky Unkindness

 

References:

A Mystery Solved. Harvard Health Publishing website. https://www.health.harvard.edu/blog/ehlers-danlos-syndrome-mystery-solved-2017080712122

Demmler JC, Atkinson MD, Reinhold EJ, Choy E, Lyons RA, Brophy ST. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open. 2019;9(11):e031365. Published 2019 Nov 4. doi:10.1136/bmjopen-2019-031365

EDS Types. Ehlers-Danlos Society website. https://www.ehlers-danlos.com

Prevalence of EDS. Ehlers-Danlos News website. https://ehlersdanlosnews.com/prevalence-of-eds/ 

Tinkle, B T. Joint Hypermobility Handbook: A Guide for the Issues and Management of Ehlers-Danlos Syndrome Hypermobility Type and the Hypermobility Syndrome. Greens Fork, IN: Left Paw Press; 2010

 

 

 

 

 

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