(***Please note – the information contained in this post is being updated according to the current 2017 EDS Diagnostic Criteria. We will republish this post once it’s been rewritten and updated. To learn more about the 2017 EDS Diagnostic Criteria and Hypermobility Spectrum Disorders (HSD), please visit ‘Understanding the 2017 Ehlers-Danlos syndromes (EDS) and Hypermobility Spectrum Disorders (HSD) Diagnostic Criteria – Helpful Resources and Links’***)
Once you have received an EDS diagnosis or even if you think you may have EDS, many people will ask “What is Ehlers-Danlos syndrome?” Having knowledge on what EDS is and how it many “look” both on the outside and on the inside of the body, is one the best things that someone new to EDS can do for themself. Taking the time to learn and gain a strong understanding on EDS, has helped numerous people find the appropriate treatments and therapies, as well as learn ways to handle the different aches, pains and issues that may arise.
Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders that are caused by various defects in the collagen protein used to make our connective tissues. These disorders can cause a wide variety of complications through out all body systems – Ehlers-Danlos Syndrome is very much a multi-systemic disorder. Based upon recent research, the prevalence of EDS exceeds this number and could be as high as 1:100 to 1:200 people (Collins, 2015; Nielsen, 2013), or higher. Each type of EDS is characterized by a distinct problem in making or using one of the types of collagen. Collagen is the body’s most abundant protein and can be found in nearly every component of our bodies, from our ears, to our eyes and mouth, to our heart, surrounding our internal organs and veins, connecting our joints, in our bones and down to the tips of our toes. Collagen is a strong protein that provides both strength and elasticity to our tissues, as well as allows our tissues to be stretched safely without damage or without being stretched past a normal range. Basically, Ehlers-Danlos Syndromes are structural problems caused by defects to the “glue” that holds our bodies together.
The collagen protein has the shape of a twisting helix, and stability for the collagen protein is Hydroxyproline and proline. L-Hydroxyproline, a major component of the collagen protein, is also the molecule in the logo for EDS 2016 International Symposium.
A perfect example is described on the website for the EDS 2016 International Symposium (eds2016.org).
“If one builds a house with bad materials, perhaps half [of] the necessary wood or aluminum nails, one knows there will be problems. Some problems can be anticipated, but because those materials were used everywhere and aren’t necessarily visible, one may be surprised. Being built out of a protein that doesn’t behave the way it should can result in widespread difficulties in a wide range of severities, even in places one wouldn’t think are connected until one realizes that collagen is used there, too.”
For the reasons stated above, Ehlers-Danlos syndrome is viewed as a multi-systemic condition that presents differently in those affected. Symptoms of Ehlers-Danlos Syndrome often include, but are not limited to: joint hypermobility (not to be confused with flexibility, as people can be hypermobile without being flexible and vice versa). Hypermobile joints are loose or unstable and slip or dislocate; dislocations; prone to bruising easily and tissue fragility – such as skin that tears easily; vascular issues and internal organ rupture; poor wound healing; abnormal scarring; chronic fatigue; chronic pain; cardiac abnormalities; foot deformities; TMJ dysfunction; low muscle tone; hernias; early osteoarthritis and degenerative discs; various GI problems and allergies; chronic headaches; eye problems; dysautonomia and POTS; dental issues; chronic pelvic pain in women; congenital defects of the spine, including the head, neck and the entire spinal column; ADD/ADHD; learning disabilities; circulatory issues and much more.
Often times, patients are diagnosed with various conditions that are considered comorbid to EDS – the presence of one or more additional disorders that can co-occur with the primary disease or disorder, such as fibromyalgia, chronic fatigue syndrome/ME, mast cell activation disorders, IBS, gastroparesis and functional GI issues, POTS and other dysautonomias, CRPS/RSD, Raynaud’s and other circulatory conditions, various dermatological conditions, mitral valve prolapse and other cardiac conditions, osteogenesis imperfecta, Chiari malformation, scoliosis, craniocervical instability, tethered cord syndrome and other structural congenital conditions of the spinal column, osteoarthritis and degenerative disc disease, migraines and other types of chronic headaches; and various conditions of the eye, ears, and skin.
You can read more about the signs and symptoms of EDS, by going here.
Pain can be widespread—for instance, collagen makes up the fascia, which is the tissue sheet that holds everything together and wraps around the entire body—but the pain may not show up in MRIs or X-rays, and will probably be out-of-proportion to any findings.
Currently, there are 6 major types of Ehlers-Danlos syndrome, including Vascular Type, which is considered most severe due to the increased risk of arterial, cerebral, and organ rupture at any age.
Vascular Type (Click on link for Vascular EDS Emergency Information)
However, additional types of Ehlers-Danlos syndrome are being discovered as more research is done and our understanding increases.
Periventricular heterotopia, ED variant
EDS Type V (X-linked – found in one family)
Occipital Horn Syndrome (EDS Type IX)
Brittle Cornea Syndrome
EDS Type X (Fibronectin Deficient – found in one family)
The EDS Type XI (Familial Joint Hypermobility Syndrome – may be linked to Hypermobility type)
New types of EDS recently identified:
(It has not been stated if any of the newly identified types of EDS below, are related to any one of the additional or dispute types listed above)
- Familial connection between Mast Cell Activation, EDS and Dysautonomia
- Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome
- Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family
- New type of Ehlers-Danlos Syndrome (EDS) in Patients With Congenital Adrenal Hyperplasia.
Ehlers-Danlos Syndrome is usually diagnosed based upon the Beighton Score; a nine-point clinical assessment for joint hypermobility. Those that score greater than a 4/9 are diagnosed with EDS Hypermobility Type. However, this assessment often discounts people who have various other signs and symptoms of EDS, because many score lower on the Beighton Score. In that case, The Brighton Diagnostic Criteria is used and includes major and minor criteria for diagnosis. Many times, people have overlapping symptoms over different types of EDS, including vascular type and a genetic test either through blood sample or skin biopsy is warranted in order to give a definitive diagnosis; however, a genetic test is not a current requirement to receive an EDS diagnosis.
**Note: The above paragraph discusses diagnostic criteria of Ehlers-Danlos syndrome at present; however, because of advancements in genetic testing, recent findings in EDS research and more expansive clinical knowledge, the EDS 2016 International Symposium plans to reclassify the diagnostic criteria for all types of Ehlers-Danlos syndrome. The symposium will also establish an internationally recognized set of guidelines, with the purpose of providing a standard of care that all medical professionals will use globally.
Despite being named in the early 1900s, it is quite obvious that EDS is far from rare and that both men and women of every race and ethnicity can inherit it. Many have suggested that EDS may be one of the most prevalent, yet under-diagnosed disorders. Currently, there is no cure. However, many symptoms can be prevented or treated as they arise and individuals can lead healthy, active, and fulfilling lives.
Ehlers-Danlos Syndromes are a set of true multi-systemic conditions that not only affect the joints, but can also affect each system in the body in various ways. To read more, see links below. Additional resources and links are listed at the bottom of the page.
“What is Ehlers-Danlos Syndrome?” is used with permission from Our Stories of Strength – Living with Ehlers-Danlos Syndrome anthology. To read more, click here.
Feature image credit goes to “You Know You have EDS When” Facebook Page.
Post previously posted in January 2015. Updated and reposted October 1, 2105.
Additional EDS Resources:
Our Stories of Strength – Living with Ehlers-Danlos Syndrome – anthology of over 50 stories from those who live with Ehlers-Danlos Syndrome and who have found ways to persevere.
Annabelle’s Challege (Vascular Ehlers-Danlos Syndrome Charity)
EDS Awareness (provides twice monthly webinars and support group needs)
EDS Wellness (medical writing, seminars, conferences, webinars, podcasts, digital and print media projects & limited health coaching)
Wellapalooza (integrative health and wellness conferences focusing on EDS, MCAS, Mastocytosis and other chronic illnesses)
Moving Naturally with Hypermobility (hypermobility seminars focused on moving more and moving better)
Our Stories of Strength (publishing good news stories about strength, determination and perseverance while living with a chronic health condition)
EDS Ride for a Cause (charity rides focused on raising money for the various EDS organizations and charities)