"Suffering the Slings and Arrows of Outrageous Fortune"

EDS 101

Ehlers Danlos Syndrome, or EDS, is one of many connective tissue disorders and shares features of Marfan Syndrome and Osteogenisis Imperfecta (Brittle Bone Disease). In EDS, the genes have the wrong instructions for making collagen, so the collagen is faulty. Collagen is found throughout the body – it is made up of rubber-band like fibers that allow the body to move and flex and that support the organs.

Normal collagen is like a sturdy rubber band – it stretches, then rebounds to its original form. The collagen of someone with EDS is more like bubble gum – it stretches too far, becomes brittle, tears and shreds. Imagine trying to hold your body together with bubble gum!

Collagen is the most abundant protein in the body – it is found in the skin, joints, organs, blood vessels, eyes, ears, vocal chords, etc. For a person with faulty collagen, the list above is where problems can exist. Often, people with undiagnosed EDS will present a long list of seemingly unrelated symptoms to their doctor, who may never put the pieces together. Once the common thread of faulty collagen is found, all of the symptoms make sense.

Here is a sampling of problems that are caused by EDS:

Skin: stretchy (from mildly to extremely extensible), velvety smooth, fragile, easy bruising, easy tearing, scarring; poor wound healing.

Joints: the ligaments, tendons and cartilage are all affected causing hypermobile, lax joints which bend past neutral. The hypermobility can affect one joint or every joint in the body. Frequent, spontaneous dislocations and subuxations (partial dislocation) can occur, causing damage to joints and result in frequent injuries and long term damage. Chronic pain also is common and debilitating. Early onset of osteoarthritis, due to damaged joints, is common in EDS.

Cardiac: The valves in the heart can be lax and prolapse, the aortic root can be dilated.

Gastrointestinal: From GERD to IBS to gut paralysis, and everything in between. GI problems are often incredibly painful and challenging for EDSers.

Autonomic Dysfunction: Postural Orthostatic Tachycardia Syndrome, neurally mediated hypotension, Reynaulds (all caused by lax blood vessels which respond sluggishly to the brain’s signals). Can also be neurological in origin or caused by Mast Cell Disease, particularly in the hyperandrenergic type of POTS .

Neurological: Not only is Chiari Malformation associated with EDS, Cervical Instability and Tethered Cord are also common and both can cause serious neurological symptoms and irreversible complications. High intracranial pressure and Mast Cell Disease are now believed to be at the root of many neurological complications for many EDSer. EDS patients are often misdiagnosed with MS and EDS patients are significantly more likely to develop MS.

Vascular: Specific to the Vascular type of EDS, blood vessels and hollow organs can rupture, causing a life threatening emergency. Other types can have cross-over vascular symptoms, but they are typically not as serious as in the Vascular type. Fragile vasculature is common in all types.

Bones: Bones can be fragile and osteoperosis can occur at at early age.

Organs: The lung tissue being extremely lax can cause asthma; the bladder, bowel and uterus can prolapse.

Eyes: dislocated/subluxed lens, retinal tears, dry eyes, and a variety of other vision problems.

Ears: The joints between the tiny bones in the ears can dislocate and cause hearing problems.

Throat: Swallowing difficulty, voice/speech problems

Dental: Teeth are fragile and sometimes break easily, gum disease – EDS folks are often accused of poor dental hygiene even when they  take conscientious care of their teeth. Teeth, which are held in place by ligaments, move easily and orthodontic work is easily undone.

In addition, EDS patients often find that local anaesthetics do not work properly. Also, proprioception (your brain’s ability to sense where body parts are) tends to be impaired, predisposing the person to injury.

Because the problem is caused by a mutation in the genes, there is no cure for EDS. Nothing can make the collagen normal. The best nutrition in the world and a host of supplements will still result in faulty collagen.

Treatment focuses on addressing the symptoms and preserving joint health: Physical and Occupational therapy are essential for strengthening muscles but must be done with the greatest of caution so as to not cause damage to fragile joints. All of the various problems mentioned above must be treated as they come. Surgery is problematic due to skin fragility. An experienced, knowledgeable surgeon is a must. Surgery often does not yield the hoped for results, but may be necessary.

Many doctors know little or nothing about EDS – often even specialists fail to offer needed help. Unfortunately, the earlier one gets a diagnosis, the better the prognosis so the lack of knowledge among medical professionals can be devastating. Left untreated and unacknowledged for years, patients endure endless injuries and long-term damage while being dismissed as lazy, crazy, hypochondriacs, drug seeking, attention seeking. People in their 30s are told they just have growing pains.

If you think you or a loved one might have Ehlers Danlos Syndrome, it is imperative to educate yourself and your doctor. It would be ideal to find a doctor who is knowledgeable about EDS, but sometimes that is not an option. Being your own expert and advocating for yourself or loved one is essential. Getting to a knowledgeable rheumatologist and a geneticist is the way to a diagnosis.

Also, it is important to realize that the condition varies significantly from person to person: One person may only have aches and pains and the occasional injury – perhaps not even knowing they have it. Another person may suddenly have serious symptoms that leave them largely incapacitated. A child may struggled from the time they start to walk. Each person is absolutely individual in how the condition manifests in their lives.

Comments on: "EDS 101" (23)

  1. […] rather than force it. For now, I will leave you with a link to this blog which talks a lot about Ehlers-Danlos Syndrome Type 3 which is what I’ve been diagnosed with as having in addition to POTS. It pre-disposed me to […]

  2. Susanna said:

    Excellent explanation! Thank you!!!

  3. I have Ehlers Danlos and find it very difficult to get medical help or attention… thankfully some doctors have started to become informed on it… Doctors use to think that I was making it up, it was a huge weight off my shoulders when my doctor positively diagnosed me with it… Thank you for the info and trying to get that knowledge out.

    • Thanks for commenting!

      I am so glad you got a diagnosis and it helped you get treated better. Drives me nuts when people like you and my daughter are accused of making it up or being crazy or whatever. Grrrr!

      It is a slow process of the medical profession becoming aware but we are slowing improving things!

      Thanks for reading!

  4. Maria said:

    This is absolutely great, easy to read and understand. Me and 2 kids have EDS type 3 and sometimes gets difficult to make people understand what is. Thanks x

    • It is not an easy thing to get people to understand. Glad you found it useful!

      Thanks for commenting!

  5. LisaJD said:

    Thank you – nice, simple explanation that I can hand out to Brownie leaders etc when they need more information about my daughter’s issues. I’m lucky in that we have a diagnosis, incredibly supportive school and brilliant medical team.

    • Glad you found it helpful! And glad to hear you have a diagnosis and great support!

      Thanks for commenting!

  6. Great explanation that is easy to understand! I have a n advocacy, awareness and education website for EDS and related conditions. I plan to share your site in our resource bank!

  7. About eds , I found this to be the way it has been for me clear, you give me understanding .

  8. I have found this to be helpful., so far ihave no full diagnoses see neuroligist this wednesday, and sometime may be this year I see dr in genetics, tis a waiting game, for me.

    • Glad you found it useful! Good luck with your upcoming visits. It is so frustrating to have to wait to see an expert. Hang in there and stay positive!

      Thanks so much for commenting!

  9. Thanks so much for your great article! My family has finally gotten the EDS diagnoses after years of misdiagnoses. We suspect it may even come from both my mother and father’s sides, explaining why it occurred 100% among my siblings and me.

    I’ve bookmarked this page so I can show it to friends and family who ask for more information.

    (fyi, there is a typo in the Autonomic Dysfunction section. It should be Raynaud’s without an l)

  10. Lissa said:

    Thank you! This is a useful piece, I can share it with my family.

  11. I’m trying to get a diagnosis right now. Half-brother has EDS (diagnosed) and my mom is definitely hypermobile, but she gave up on fighting doctors for a diagnosis after being told for 20 years that she needed antidepressants and therapy. She has 2 brain cysts and cerebellar tonsillar ectopy of 4mm (just below the threshold for chiari malformation diagnosis). Maternal grandmother was a prescription drug addict for most of her life for pain. I’m barely functioning with many of the same symptoms and some new ones (will be 28 this year and have no teeth). Four months of waiting, only 2 weeks left until my geneticist appointment…if it isn’t EDS/chiari I don’t know what I’ll do. Had to fight so many doctors who just wanted to throw an antidepressant at me, sick of how pompous they act when they don’t want to do the research to figure out what’s wrong with you but won’t listen to you, even if there’s family history. Just trying to be my own advocate and ignore the slings and arrows of the medical industry… (see what I did there?)

    • I did see what you did there… sorry it took me so long. Hope your appointment went well and you got the answers you need!

      • I did end up getting the diagnosis. Classic type. Still trying to figure out the rest of it.

        • A diagnosis is just the beginning. But, it is A beginning and that is an important thing! There are so many moving parts with EDS – it can take a long time to figure it all out so remember it is a marathon and not a sprint. In the meantime, congratulations on your diagnosis. (I know that is weird but you hopefully know what I mean!)

          • Definitely agree, and I get what you mean. I’m going to be sick either way, but without the diagnosis nobody takes you seriously. And it’s a lot easier to come to terms with it when it has a name.

            We suspect chiari malformation, gastroparesis, and some kind of dysautonomia. Specialist appointments well into next year, though…just trying to be patient.

  12. Dianne Dalziel said:

    I am 49 yrs old and never officially been diagnosed, although all three of my children have it and the eldest has a different dad, at 23 I was sent to see a psychiatrist who said I was imagining the severe pain I was in and had to take back control of my own mind, I have changed my doctors many times since but I am still not diagnosed, I was in costant pain as a child and have carried this pain all through my adult life, I have visual problems, sometimes loosing my sight for up to 2 minutes, I have Gastro problems, swallowing problems, I’m still bendy, I drop things, I now have problems with C4,5,6 and 7 in my spine, I bruise easily, local anaesthetic does not work on me, my teath are crumbling, I could go on and on yet I am still undiagnosed as my doctors like to treat my symptoms as individual symptoms I have told many doctors that I may have EDS, they either smile like I’m an idiot, tell me this consigns doesn’t relate to EDS or stare at me blankly. I’ve tried everything over the last 35 years and I cannot afford to go private, so where do I go from here.

    • I am sorry to hear about your struggles. It can be so hard to struggle with EDS and all of the symptoms that come along with it. And, when doctors don’t believe you, well, that makes it so much harder. I will say that all of the things you describe sound very much like EDS to me. I believe you!

      I see that you are in the UK. I would recommend going to http://hypermobility.org/discussion/ and signing up to get on the forum there. The folks there will have better answers for you than I can from here in the US. I wish I had a better answer for you, but I think joining that forum is your best bet for getting answers.

      Good luck!

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