Sunday 14 December 2014

Types of Ehlers Danlos

EDS is a genetic connective tissue condition that is a multi-systemic syndrome.  Connective tissue covers over 95% of your body so there is little that escapes. 

Some of you will be aware Ehlers-Danlos is a rare condition, and most of you will be wondering why the zebra well it's a term which is taught to medical students

"When you hear hoofbeats think of horses not zebras" 

This is because zebras are relatively rare! 

So because Ehlers Danlos Syndrome is a rare illness the zebra is the motto!

Now for the fun bit as I'm going to explain all the different types of Ehlers Danlos Syndrome

Classical Ehlers-Danlos Syndrome 

What is the main symptoms of Classical EDS?

Individuals with Classical EDS may have the following features: 
• Joint hypermobility. Loose, unstable joints that can lead to dislocations and subluxations. 
• Stretchy (hyperextensible) and fragile skin which can split easily. 
•  Smooth, velvety skin that bruises very easily 
• Wounds can be slow to heal and leave distinctive widened scars.


Hypermobility (This is the type I have so I have photos!) 
Joint 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 HEDS. 
• Uterine, rectal or bladder prolapse. 
• Urinary dysfunction. 
• Varicose veins. 
• Blue Sclera (white part of eye) 
(hypermobile elbow joint)
(Blue Sclera) 


Vascular Ehlers Danlos Syndrome
(This is the most serious type) 
For more information on this please go to www.annabelleschallenge.org or www.ehlers-danlos.org 

Photographs kindly donated by Annabelle's Challenge which raises awareness of Vascular Ehlers Danlos Syndrome. (Thanks once again for letting me use them) 

Individuals with Vascular EDS may have the following features:
• A tendency to bruise extremely easily.
(Examples shown photos courtesy of Annabelle's Challenge) 

• Thin skin which makes blood vessels visible on the upper chest and legs.
(example shown photos courtesy of Annabelle's Challenge) 
• Fragile blood vessels which could cause major complications, including rupture of blood vessels and even death. 
• Partial lung collapse.
• Slow healing.
For more information on this type please visit www.annabelleschallenge.org or www.ehlers-danlos.org

Kyphoscoliotic Ehlers Danlos Syndrome

Individuals with this type may have the following features;
• Loose unstable joints that frequently lead to dislocations.
• Weak muscle tone from childhood which may cause delay in sitting and walking.
• Curvature of the spine sometimes starting in early childhood which often increases severely in adolescence.
• Difficulty in walking if symptoms progress
• Fragile Eyeballs which can easily be damaged 
• Unusual shape of the clear, front part of the eye (Cornea).
•Soft velvety skin which is stretchy, bruises easily & scars.
Occasionally there may be other features present including;
• Fragile arteries which can lead to complications.
• Tall stature with long limbs, fingers & toes.
• Osteoporosis (Weakened bones) 
• Clubfoot (apparent at birth) 

Tenascin-X deficient Ehlers Danlos Syndrome

Individuals with Tenascin X deficient EDS have the following features; 
• Hyperelastic Skin.
• Hypermobility Joint, this may subluxation or dislocate.
• Easy bruising.
• Normal scarring. 

Arthrochalasia Ehlers-Danlos Syndrome
(This is a very rare form of Ehlers Danlos) 

Individuals with Arthrochalasia EDS have the following features;

• Severe generalised joint Hypermobility with recurrent dislocations.
• Congenital bilateral hip dysplasia. Hips dislocated at birth, in all biochemically confirmed cases. 
• Doughy soft redundant skin, hyper-elastic, which does not easily spring back (similar to cutis laxa) 
• Tissue fragility, including atrophic scars.
• Kyphoscoliosis.
• Some cases have hydrocephalus and other skull & back deformities.
• Mitral valve prolapse and regurgitation.
• Internal complications affecting Kidneys/lungs/heart & brain.
• Around thirty known cases worldwide. 
•Chiari Malformation (Sometimes called an Arnold Chiari) which means that the lower parts of the brain have been pushed downwards towards your spinal cord so they are at the entrance to the skull. Cranial instability is usually present with Chiari. 

[I'd like to thank B. Zee who has the Arthrochalasia type for telling me about it and providing the photographs] 

(Photos kindly donated by B. Zee) 

Dermatosparaxis Ehlers-Danlos Syndrome

Individuals with Dermatosparaxis EDS have the following features;

• Severe skin fragility.
• Sagging, redundant skin.
• Soft doughy skin texture 
• Easy bruising.
• Premature rupture of feral membranes. (Type 7C
• Large hernias.








Welcome!

Well this is my introductory post! 

I'm 29 years of age and I suffer with the debilitating rare condition Ehlers-Danlos Syndrome. I got diagnosed after a lengthy fight. 

My hobbies are playing on my iPad, watching films and of course been with my friends, but I haven't had time for much of that lately as my health is deteriorating so rapidly.