About Ehlers-Danlos Syndrome

Bigger on the Inside(Because who doesn’t love a little Doctor Who?)

What is Ehlers-Danlos Syndrome?

(from Ehlers-Danlos National Foundation)

“Individuals with Ehlers-Danlos syndromes (EDS) have a genetic defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in patients with EDS are the result of faulty or reduced amounts of collagen. Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue.

EDS is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is defined as a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.”

While there are at least six types of EDS, and each of them can have cross overs, such as vascular issues, skin and joint problems, etc, the hypermobility type is the most common. I will likely focus more on that type in this blog, as I believe it’s what impacts my family, but the link earlier in this paragraph as well as this one, give more details on the other types, such as the stretchy and vulnerable skin of Classical Type, heart and arterial problems with vascular type or congenital problems with other types. Current estimates are that between 1 in 2500 to 1 in 5000 people have EDS-HT. EDS has been considered a rare disorder, but personally, I believe it’s more common than believed. The rates of people that are reported to have it seem to be getting smaller and smaller as more awareness is raised. I like how another blogger put it “EDS-H & JHS are not rare, they are just rarely diagnosed”

(and from Ehlers-Danlos Support UK)

“There can be considerable variability in the condition, even within the same family. Some people have joint hypermobility but do not have any other symptoms. Others can be more severely affected. Individuals with EDS-Hypermobility Type (EDS-HT) may have the following features:

  • hypermobility EDSJoint hypermobility with the joints having a wider range of movement than usual.
  • Loose, unstable joints that can lead to dislocations and subluxations.
  • Joint pain and fatigue.
  • Easy bruising.
  • Gastrointestinal dysfunction.
  • POTS (postural orthostatic tachycardia syndrome) causing fast heart rate, dizziness and fainting.
  • Mitral valve prolapse, a heart valve abnormality which is usually only mild in EDS-HT.
  • Uterine, rectal or bladder prolapse.
  • Urinary dysfunction.
  • Varicose veins.”

Is there a difference between EDS-HT and Joint Hypermobility Syndrome?

There has been debate for years if there is actually a difference between these two disorders, as they are often described with the same terms and there is a wide overlap of symptoms as connective tissue impacts the entire body. It’s possible that it’s a group of similar disorders. The current consensus though, which I subscribe to, from those who work most closely with the disorder, is that the two disorders cannot be differentiated. Other names including EDS type III and Benign Joint Hypermobility syndrome have previously been used.

How is it diagnosed?

There are a couple different sets of diagnostic criteria that are currently recognized (I fit under both of them), but one of the most commonly used (and clearly measurable) is the Brighton Criteria. I could spend ages explaining it, but this little graphic is much more effective! I’m not sure who made it, so my apologies for not giving it credit (let me know if it was you, and I will gladly give credit)

beighton-score-brighton-criteria

EDS is a genetic disorder. The two known inheritance patterns for EDS include autosomal dominant (autosomal means it can affect, and be passed on by, both males and females and the altered gene is the dominant one) and autosomal recessive, and unfortunately, there’s not currently a cure. There are genetic tests that can confirm, but not rule out, several forms of EDS. Unfortunately, there isn’t currently a test that can show EDS-HT. While there isn’t a cure yet, people with the syndrome can be supported

So what’s the prognosis, and what can be done?

The prognosis depends on each individual and what kind of Ehlers-Danlos Syndrome they have. Life expectancy can be very shortened for some with forms such as Vascular EDS due to the possibility of organ and vessel rupture, but most other forms will have normal life-expectancy. There can be what some call “crossovers” though, where, for instance, someone with diagnosed classical EDS or hypermobility EDS (or other types) will have vascular issues, so some recommend regular echocardiograms to guage risk of problems with things like aortic dissection or mitral valve prolapse.

Some individuals will continue to lead “normal” (whatever that is!) lives and have mild symptoms, but others will have more debilitating symptoms, and may require bracing or use of mobility aids or other medical devices. Gentle, non weight-bearing exercise, such as pilates and swimming can be helpful in building muscle strength to better support joints. Joint care is essential, and contact sports are not recommended. Many will benefit from support from professional resources such as pain management, rheumatology, physiotherapy (physical therapy) or occupational therapy.

So, that’s my explanation of EDS in a nutshell. Does anyone have anything to add or want to share something of their experiences? Please add comments for us to share! It’s all about the community! It makes things bearable.

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