What is EDS?

The Ehlers-Danlos Syndromes are a group of heritable connective tissue disorders caused by mutations in the genes that tell our bodies how to produce collagen. There are 13 types described in the 2017 criteria for EDS.

The types are:

EDS Zebra
Why the Zebra?
  • Classical (cEDS)
  • Classical-like (clEDS)
  • Cardiac-valvular (cvEDS)
  • Hypermobile (hEDS)
  • Vascular (vEDS)
  • Kyphoscoliotic (kEDS)
  • Arthrochalasia (aEDS)
  • Dermatosparaxis (dEDS)
  • Spondylodysplastic (spEDS)
  • Musculocontractural (mcEDS)
  • Myopathic (mEDS)
  • Periodontal (pEDS)
  • Brittle Cornea Syndrome (BCS)

The 2017 criteria also gives us Hypermobility Spectrum Disorder (HSD) for people with symptomatic hypermobility but that do meet the criteria for any of the well defined types of EDS or another connective tissue disorder such as Marfan syndrome.
Some people in this group may be very badly affected but not have all the manifestations required for a diagnosis of hEDS. For example they may be pretty much identical to someone with hEDS except not having the skin manifestations or not being marfanoid body type. All EDS types are spectrum conditions.

For more information on the different types (1997 criteria) see my Awareness Month post on The Types of EDS

Collagen is one of the primary building blocks in the body, it makes up parts of our bones, organs, skin, ligaments, tendons – even our teeth! It is integral to pretty much every system in the body.

EDS affects people along a spectrum. Some people may have very few symptoms and live a very normal life while others can be very severely affected and, in rare cases, even life limited.
Ehlers-Danlos is not life threatening, however those with the rarer Vascular type can have a shorter than average expected life span depending on the severity of their mutation.

Common symptoms of EDS include:

  • subluxations (partial dislocations) and dislocations,
  • chronic or persistent pain,
  • poor proprioception (awareness of the body’s position in space),
  • easy bruising,
  • soft velvety and/or stretchy skin,
  • unusual scarring,
  • gastrointestinal disorders,
  • dysautonomia eg. PoTS,

How does EDS affect me?

I am diagnosed with the Hypermobile type of EDS.

EDS affects me by causing my joints to be extremely hypermobile. They are very loose and can subluxate or even dislocate easily. It also leaves me with chronic pain and fatigue to battle with on a daily basis.

It has affected my autonomic nervous system causing a form of dysautonomia called Postural Tachycardia Syndrome (PoTS) as well as raynauds phenomenon. My gastrointestinal system has been affected, meaning my stomach does not empty properly (delayed gastric emptying or gastroparesis) and my gut transit is very slow – this is managed carefully through diet and medications at the moment. My skin is quite stretchy and very velvety soft, I bleed or bruise easily and heal very slowly but it is not as fragile as many others with EDS.

As a result of my symptoms I use a wheelchair to get about when out of the house. Before I got my chair I had been housebound for a significant period due to pain, fatigue, dislocations and fainting (because of my PoTS). My wheelchair gave me back my freedom and in many ways, my life. It allows me to pace my activities better, prevents me from falling and saves all the effort I was spending on just concentrating on standing up!

For more information on hypermobility syndromes including Ehlers-Danlos, visit the HMSA website.

sig