Ehlers-Danlos Syndrome


Ehlers-Danlos syndrome is a genetic multisystemic disorder in which the connective tissue is build in a wrong way.

Until March 2017 the different EDS types were classified into six main types according to Villefranche Nosology:

Classical Types (Type I, II, and V)
Hypermobile Type (Type III)
Vascular Type (Type IV)
Kyphoscoliosis Type (Type VI)

Arthrochalasia and Dermatosparaxis Type (Type VII)

Great overview about EDS genetic:

http://ehlers-danlos.com/2014-physicians-conference/Francomano%20-%20Molecular%20Analysis.pdf

Furthermore  some rarer types were named: 

EDS types

EDS types

In March 2017, after 20 years, a new classification has been published:

MALFAIT, Fransiska, et al. The 2017 international classification of the Ehlers–Danlos syndromes. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017. S. 8-26.

New EDS classification 2017

New EDS classification 2017

Because connective tissue is found in pretty much every organ of the body, it is clear why this is a multisystemic disease that can be present in varying degrees in every organ or joint.

Some of the symptoms are: stretchable skin, fragile skin, drooping eyelids, hypermobility of the joints, easy bruising, mitral valve prolapse, scoliosis, irritable bowel syndrome and many more.

At the moment it is estimated that 1 in 5,000 people is affected, but specialists believe that the number of unreported cases is much higher.

It is mainly diagnosed clinically using the Beighton score, or genetically by identifying the mutation (possible for all types except the hypermobile type). Many patients are misdiagnosed even after years of suffering.

The whole diagnostic criteria for each type can be found here:

MALFAIT, Fransiska, et al. The 2017 international classification of the Ehlers–Danlos syndromes. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017. S. 8-26.

Since Ehlers-Danlos syndrome is a genetic condition it can at the moment only be treated symptomatically.

Some helpful advises for physical therapy you can find here. 

Additional helpful aids are here.

 

EDS and specialists

EDS and specialists

A very good overview about which examinations should be done and which specialists you should see, you can find here:

Suggested medical work-up for those traveling to see Ehlers-Danlos Specialists.

http://static1.squarespace.com/static/530ba668e4b0a1097b378ab6/t/54d13ed1e4b0ea27977e97fe/1422999249502/TCAPP_EDSWorksheet.pdf

Often there is no other option for EDS patients than surgery but there are a lot of things to consider. More information concerning EDS and surgeries you can find here. 

 

Since I am personal affected, it is very important for me to raise awareness for EDS.

More information about EDS you can find in my Forum or Facebook site.

Furthermore my website has a lot of scientific publications about EDS hypermobile type.

More information about EDS hypermobile type and the new criteria you can find here.

 

Support groups:

USA
Ehlers Danlos Society
http://ehlers-danlos.com

Chiari und Syringomyelia Foundation

http://www.csfinfo.org

EDS awareness

http://www.chronicpainpartners.com

UK

http://www.ehlers-danlos.org

Kanada:

http://www.theilcfoundation.org

 

Other resources: 

http://edswellness.org

http://strengthflexibilityhealtheds.com

http://movingnaturallywithhypermobility.com