What is EDS?

Ehlers-Danlos Syndrome is a GENETIC, progressive connective tissue disorder…. and is complicated.  Hah!

However, EDS can be traced down to a genetic variation which affects how a person’s body makes and/or processes collagen.  When the body has the wrong instruction set or blueprint for collagen, everything in the body made out of collagen is now subject to structural problems because of this inherent error within a person’s DNA.

 

What is made out of collagen in the human body?

 

Welllllll…. this is where things get dicey.  The answer, to put it simply, is “almost everything”.

 

Collagen is the “glue” that holds the body together, essentially.  It makes up your ligaments, your tendons, your hollow organs (heart, bladder, intestines, etc), your nerves, your brain, your skin, the connective tissues that hold your organs in place, your muscles, the fibers that hold your joints together…

 

Symptoms of EDS depend on what type of collagen is affected by the genetic variation, how much damage the tissues have already sustained, mast cell activity, medical and emotional support structures, knowledge of the disease… You know, genetics plus environment plus individuals – aka LIFE!

 

The easiest analogy to reach when describing EDS is to use the “Stretched out rubber band” concept.   You have a rubber band… you stretch it a few times, it bounces back – maintains its shape.  You keep pulling at it, and over time it starts to crack – the fibers losing their elasticity from stretching over time – and eventually it breaks.  In a normal person, the rubber band just stretches – sometimes it gets a little worn out at the end of the day and people’s ankles or backs hurt.  But, it bounces back!  With an EDS person, the rubber band cracks and breaks… by the time you are 35 years old.

Now, imagine someone grabbing at your hand and pulling.  What would happen?  You would either break free of the pull or follow the person pulling your hand, right?   They grab your hand, you feel the tension on your tendons and ligaments, your muscles contract in response…

With EDS, there is something else that happens.  Someone grabs my hand and pulls – the tendons and ligaments STRETCH TOO FAR – the sense of tension in that joint GONE.  My ligament does not register that it is no longer holding my bones in place, my muscles do not contract… and wrist pops out (and usually the shoulder and elbow too!).

 

You getting the idea?  Inflammation causes joints to swell, which causes ligaments and tendons to stretch, which causes the elastic fibers to wear down and crack and break….

 

And it all can be traced back to a tiny little error in DNA.

 

That is my little blurb about EDS.

 

Below is the official information from the EDS SOCIETY UK website (which I think is better worded that the US site)

What is EDS?

The Ehlers-Danlos syndromes (EDS) are a group of thirteen individual genetic conditions, all of which affect the body’s connective tissue. Connective tissue lies between other tissues and organs, keeping these separate whilst connecting them, holding everything in place and providing support, like the mortar between bricks. In EDS, a gene mutation causes a certain kind of connective tissue – the kind will depend on the type of EDS but usually a form of collagen – to be fragile and stretchy. This stretchiness can sometimes be seen in the skin of someone with EDS; individuals with the condition may also be able to extend their joints further than is usual – this is known as being hypermobile, bendy or double-jointed. As collagen is present throughout the body, people with EDS tend to experience a broad range of symptoms, most of them less visible than the skin and joint differences. These are complex syndromes affecting many systems of the body at once, despite this EDS is often an invisible disability. Symptoms commonly include, but are not limited to, long-term pain, chronic fatigue, dizziness, palpitations and digestive disorders. Such problems and their severity vary considerably from person to person, even in the same type of EDS and within the same family.

 

I happen to have classical EDS – my Type V collagen is affected.  Here is more (link to full article):

 

Making a diagnosis of classical Ehlers-Danlos syndrome (cEDS)

It is often possible to make a diagnosis of classical EDS from a clinical examination together with details of a person’s medical history.

The clinical features to look for include:

  • Fragile skin which can split easily with minimal trauma. This leads to significant scarring usually starting from childhood.  The common sites for scars are on the knees, elbows, shins, forehead and chin. The scars tend to become wide with a thin appearance often described as being “like tissue paper”. (Surgical wounds, particularly those on the knees, often heal to leave an obvious scar. So, wide scars following knee surgery are not a good indicator for classical EDS.)
  • Stretchy skin, often very stretchy!
  • Joint hypermobility, which may cause the joints to slip out of position resulting in dislocations or subluxations, and may be associated with chronic joint pain.
  • Easy bruising, which may lead to permanent discolouration and is often visible on the shins.
  • Fragile and extensible tissues can also result in hernias, prolapse and cervical insufficiency.

It is often possible to make a clinical diagnosis of classical EDS without further investigations.

..

Classical EDS is a genetic condition, but genetic testing is not always needed to make a diagnosis. In fact, the genetic cause still cannot be identified for all patients with a diagnosis of classical EDS. Some people with classical EDS have an alteration in either the COL5A1 or COL5A2 genes. If a gene change can be identified then genetic testing can be offered to other family members.

The COL5A1 and COL5A2 genes are the instructions for making collagen type V. When either gene is altered it causes a lack or deficiency of this collagen. This leads to disordered packing of collagen fibres making the connective tissue less effective, particularly in the skin and joints, leading to the recognised features of classical EDS.

Our genes come in pairs, as we inherit one from our mum and one from our dad. When someone with classical EDS has children they will pass on one copy of each gene to each of their children. So in every pregnancy, there is a 50% (1 in 2) chance of a child inheriting the altered copy of the gene and having classical EDS. There is the same chance of the child inheriting the unaltered gene copy and not having the condition. Not everyone with classical EDS will have a family history as it can start for the first time in a person. In this situation there is still a 50% chance of it being passed on. 

 

 

Yes, I am one of the people in whom cEDS happened for the first time – only person on both sides of my family with this condition.  As you can imagine, this lead to years of confusion regarding my symptoms…

 

Anyway, here are some links to other EDS patients explaining the basics of EDS.  This is a very individual condition – and each person has their own ideas/understandings to add, so the more you read from others, the better you can understand exactly how EDS effects you (or someone you know!):

 

 

THE CONCEPT OF “BENDY” JOINTS AND CHRONIC PAIN – through the eyes of a couple of fellow “ZebraWarriors”

 

Chelsea at Medium (link to full article)

In healthy folks, tendons and ligaments act like metal coils (taut and stable) and muscles act like rubber bands (able to stretch but not too far because of those tight coils connecting them).

In folks like me with EDS/hypermobility, it’s the opposite. My tendons and ligaments act like rubber bands (stretchy) and are unable to hold the muscles and bones together. My muscles, as a result, are constantly in contraction mode for protection, therefore they are always tight and activated because of all the work they have to do for my useless ligaments. This is why no matter how hard I try, no matter how many massages I get, my muscles just will not calm down.

And if I attempt to stretch out my muscles like a normal person, what I’m actually stretching are the tendons and ligaments. NOT GOOD.

 

And because my muscles and bones aren’t held together properly, it’s easy for my joints to be out of whack and to have subluxations and dislocations. For example, my right shoulder blade slowly slips out of place approximately 10,000 times a day. I then have to adjust it and pop it to get it back in.

All of this puts constant stress on my joints and causes chronic pain.

 

 

Sarah, Librarian in Black on EDS (link to full article):

Due to the EDS, every collagen cell in my body is faulty and is programmed to be too stretchy and ultimately becomes like an old stretched out rubber band.  Normal rubber bands are tight and when you stretch them they bounce right back to their previous shape. EDS sufferers have collagen that is already over-stretched, so when you stretch it out again, it does not bounce back to its original shape, but stays lax and loose. Therefore, we’re super-flexible…but pushing our joints to their limits (as with stretching, yoga, Pilates, heavy-lifting) does long-term irreversible damage.

Practically speaking, this means that my joints are all incredibly unstable and frequently dislocate. Some of my joints bend completely backwards (I can do neat party tricks like bending all of my fingers to touch the back of my hand) while other joints like my wrists and knees bend about 5-10 degrees backwards. The muscles around every single joint also tend to tighten way up, to do the job that my tendons and ligaments aren’t doing: keeping my skeleton in one piece. Dislocations and always-tight muscles = whole body chronic pain.

There’s a lot of collagen in skin especially (90% of skin is collagen), so my skin is super-stretchy and velvety which means two things: I have great skin that will keep me young-looking and wrinkle-free well into my life. But my skin (as well as other collagen-based tissues) bruises and tears easily and takes ten times as long to heal as normal skin does. This is bad for surgeries, and even for simple injuries like cat scratches. So, I’ll probably look like I’m twenty when I’m sixty, but I felt like I was sixty when I was twenty. I truly, truly do feel like an old woman. My body doesn’t work the way it should. It has betrayed me.

Think of EDS like extreme rheumatoid arthritis in every single joint, with the addition of random dislocations. And “every single joint” means just that: fingers, wrists, elbows, shoulders, ribs, vertebrae (a particular bad set of joints for me), hips, knees, ankles, toes, etc.  People with Ehlers-Danlos Syndrome experience acute chronic pain in some or all of their joints and experience neuropathic (nerve) pain in some or all parts of their body, and some even have heart defects that can cause sudden death. Most of us have additional problems with vision, digestion, migraines, pregnancy, and our jaws and teeth. It’s an all-encompassing disorder. I have the “Hypermobility Type” of EDS, and my most serious symptoms are in my entire spine, hands, wrists, ribs, knees, and hips.  Thankfully, I do not have the “Vascular Type” of EDS, which can cause sudden and early death.

There is no cure for EDS. There are only limited treatments for the chronic pain and over-flexibility.

 

Please see the EDS Resources page for more information!