What is Ehlers-Danlos Syndrome? (and how it affects me)
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What is Ehlers-Danlos Syndrome? (and how it affects me)

The title should really be 'what are the Ehlers-Danlos Syndomes' as since 2017 there have been thirteen sub-types of Ehlers-Danlos Syndrome.

Basically, the Ehlers-Danlos syndromes are a group of disorders which affect connective tissue (tissue that connects, supports, binds, or separates other tissues or organs) which can be inherited (with several genetic causes) and have different impacts on the body depending on the classification.

Generally, they are characterised by joint hypermobility (joints stretching more than they usually should), skin hyperextensibility (skin that can be stretched further than normal), and fragile tissues which may not heal well, and damage easily.

In the UK it is not often that genetic testing is offered, so mostly the classification is based on an assessment against the minor and major criteria and matching these to the most likely diagnosis - this is often called a 'provisional clinical diagnosis'.  You can read more about the different sub-types of Ehlers-Danlos Syndrome here.  It is thought that I have Classical-like EDS (clEDS), however I have not had genetic testing to confirm this.

Symptoms of Ehlers-Danlos Syndromes

The main symptoms associated with EDS are related to the joints and the skin.

Joints

Hypermobility

Hypermobility of joints, often leading to them being loose and unstable leading to injury is the most common symptom.  I experienced this from a young age and frequently sprained my ankles, as well as having extremely loose shoulders (sorry for all those times I used to demonstrate this on the hockey pitch turning people a rather unattractive shade of green!).  Sometimes joints can partially move out of their normal position (sub-luxation) or completely (dislocation) which may spontaneously resolve, or need medical help to relocate.  

For me, my shoulders do this on an almost daily basis, and rarely need medical attention to fix. I've found ways of supporting my shoulders so that they are not 'at risk' of being stretched or popping out - which is why you'll often see me sitting with a cushion on my lap, with my arms on the desk or table in front of me, or with my arms above my head (because this stops my shoulders dropping out of the joint!).  It's also why I chose the wheelchair I have, which does not require me to push at angles which cause strain on my shoulders.

I also frequently get problems where my joints have moved too far and get stuck - particularly with my spine.  In this case, my facet joints get 'stuck' and locked in position.  Generally I have to go and see my osteopath for help resolving this, as I can't fix it myself.  I also have ongoing stiffness in certain facet joints due to the hypermobility in my spine which means they can get sore and inflammed - for these I have exercises which help to keep them moving, and un-stick them if they are getting a bit stiff.

Related to this, there can sometimes be chronic musculo-skeletal pain which starts from a young age.  For most of my childhood I had pain in my joints at varying levels.  This was almost entirely put down to having 'growing pains' and nobody really thought to look any further - plus I was very much a 'just get on with it' rough and tumble child and just pushed on!  

I was very active from a young age.  Most of the clinicians and trainers I have worked with think this is why I was largely able to function normally for most of my childhood and teens (despite the pain) because I had pretty strong muscles which were supporting my joints and preventing the more severe complications such as traumatic dislocations.  I only started to have my life significantly impacted by my EDS when - due to a health crash - I lost the ability to be physically active, lost muscle tone, and gained weight.

Hyperextensibility

I have hyper-extension in several of my joints - my knees, elbows and neck mostly - which means that I stand with my knees extended beyond the 'normal' range of movement because the ligaments which should block that movement are too loose.  It also means that it can be very tiring for me to sit without neck support, because my neck and back muscles have to try to compensate for the ligaments being too stretchy.

Early-onset osteo-arthritis

One of the common side-effects to all of this is early-onset osteo-arthritis, because the joints are moving more than they should and wearing down quicker.  This also happens because the normal anatomical structures are not functioning in the way they should to distribute the load, and hence pressure points develop.

As an example, I have almost completely collapsed arches in my feet which causes very bad over-pronation (where my feet roll inwards).  If I walk without arch support, the load which should be distributed through the efficient 'arch' of the foot but instead is forced directly from my ankle through my big toe joint.  This was confirmed both by a podiatrist and by running on a force plate which graphically showed a big red 'hotspot' under my big toe.

I was advised by both that if this wasn't corrected, I would end up with extremely severe arthritis in my feet by my 30's (which my paternal grandmother suffered with all her life).  Adding arch supports also suddenly stopped the pains i was experiencing in my shins, as the rest of my lower leg biomechanics returned to how they were 'meant' to function.

Skin

Texture and stretchy-ness

EDS can cause the skin to be very soft and velvety, as well as being extremely stretchy.  My skin is like this - I easy get very deep striae distensae (stretch marks) just by drying myself with a towel or streching the skin, and have done since I was about 12 years old.  I also bruise very easily which is another common symptom of EDS, usually spectacularly worse than the actual injury would usually cause unless I'm very quick with ice and pressure!  We have ice packs on standby at all times in our house!

Wound healing

It often takes a long time for wounds to heal in people with EDS, and they can sometimes heal with strange-looing scars, which is called 'atrophic scarring'.  Scars can often become thin and stretched, once they do heal over.  Of course, this has pretty important implications any time surgery is needed - thankfully this hasn't happened to me yet!

Other symptoms

There are a lot of other symptoms that can be related to EDS, which are largely due to the types and location of collagen which are affected.

Collagen is what the body uses to provide strength and elasticity to tissue; normal collagen is a strong protein that allows tissue to be stretched but not beyond its limit, and then safely returns that tissue to normal. Collagen is found throughout the body, and Ehlers-Danlos Syndrome is a structural problem.  As an analogy: If one builds a house with bad materials, with cheap nails or only half the wood required, problems will arise. Some problems are more likely to show up than others, but because the bad or missing materials are everywhere and not necessarily visible, one can be surprised where some problems occur.

It is much the same thing with Ehlers-Danlos Syndrome and collagen. The collagen with which a person with Ehlers-Danlos Syndrome is built is not structured the way it should be, or only part of it is produced. With a badly built or processed collagen, the tissue that relies on it can be pulled beyond normal limits and thus be damaged. Collagen is the most abundant protein in the body and types of collagen can be found almost anywhere: in skin, muscles, tendons and ligaments, blood vessels, organs, gums, eyes, and so on. The problems resulting from one’s body being built out of a protein that behaves unreliably can be widespread and in a wide range of severity. It shows up in places that seem unrelated until the underlying connection to Ehlers-Danlos Syndrome is recognized.
~ Ehlers-Danlos Society

For example, the heart valves can be affected causing mitral valve prolapse, and internal organs can sometimes be fragile and rupture or prolapse.  Blood circulation can be affected if the blood vessels are too 'floppy'.  I have real difficulties with dental anaesthesia, which wears off very quickly.  I also find it extremely difficult to exercise in hot or cold environments because my body is not very good at regulating its temperature.

I hope that's given you an overview of what the Ehlers-Danlos Syndromes are, and a bit of an insight into how they affect me!

If you would like to support an organisation who are actively working to promote awareness of and research into these conditions, you can make a donation here - large or small, everything helps!

Useful resources:

What is EDS - Ehlers-Danlos Society

EDS Types - Ehlers-Danlos Society

Skin involvement in EDS - The Hypermobility Syndrome Association

Update for clinicians on Hypermobility Syndromes - The Hypermobility Syndrome Association

 

Last modified onSunday, 30 April 2017 15:45
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