Ehlers-Danlos Syndrome, what is it?

In light of May being Ehlers-Danlos Syndrome Awareness month, I shall be sharing some information about the syndrome in some different posts throughout the month. I took most of this post from another blog that I'm running, just to save some time as I saw no reason to write the same thing twice.

Ehlers-Danlos Syndrome, often simply referred to as EDS is a genetic connective tissue disorder where one or more types of collagen is affected. There are different types of Ehlers-Danlos Syndrome: Classical, Hypermobility, Vascular, Kyphoscoliosis, Arthrochalasia and Dermatosparaxis.

Hypermobility type is the most common type, followed by Classical type. Vascular Ehlers-Danlos Syndrome is considered the most severe out of the "common" types of Ehlers-Danlos Syndrome and that's due to the weakening of blood vessels and organs that increases the risk for aneurysms and dissection.

Kyphoscoliosis, Arthrochalasia and Dermatosparaxis type are all very rare, between them all there may be as few as 100 cases confirmed.

Symptoms of Ehlers-Danlos Syndrome ranges from mild to severe and it isn't uncommon to have crossover symptoms from another type. The wise are still arguing whether you can have only one type of Ehlers-Danlos Syndrome or if you can indeed have more than one type. I personally prefer to say someone has one type, with crossover symptoms of another type, but I am no doctor.

The hallmark of any type of Ehlers-Danlos Syndrome is joints that can move beyond normal range of motion, and some kind of skin involvement, the most known being hyperelastic skin. Skin involvement also includes velvety soft skin, a doughy feeling, too much skin, abnormal scarring, striae and translucent skin. You can have one or more of the skin symptoms.

Example of joint hypermobility that I have

Example of scarring and striae on my shoulder area

Ehlers-Danlos Syndrome also causes a lot of pain for many patients, often both chronic and acute pain and it may be very complex to treat as it's not uncommon to be either very sensitive or resistant to medicines. It is sadly all too common that doctors don't understand the pain, and as it for the most part can not be seen on imaging, patients are often labelled as drug seekers or have their pain labelled as psychological when it's very much physical. It can take a long time to find a doctor who understands the complexity and to get a good pain management.

Ehlers-Danlos is so much more than skin and joints though, you may also have some form of dysautonomia, Chiari malformation, Cervical instability, pelvic floor prolapse, IBS, heart problems (mostly mitral valve prolapse) or early onset arthritis for example.

You are born with Ehlers-Danlos Syndrome but for some, symptoms don't develop until later in life, or the symptoms are so mild in childhood that you mistake them for something else, like claiming the pain is just growing pain, it's also common that people get misdiagnosed with Fibromyalgia when they do in fact have Ehlers-Danlos Syndrome. 

If you suspect you or a loved one may have Ehlers-Danlos Syndrome, talking with your doctor is the first step to make. Depending on your location, where and by whom you're diagnosed may vary.

Pages to learn more about Ehlers Danlos Syndrome:

http://ednf.org/

http://hypermobility.org/