Ehlers Danlos
Ehlers Danlos (EDS) is a genetic connective tissue disorder cause by a defect in the synthesis of collagen. Connective tissues is used to help support skin, bones, organs, muscles and ligaments. There are different mutations which vary from mild - life threatening. Symptoms are based on which type of EDS you have. Most typically it affects the joints, skin, and blood vessels. Symptoms can be loose, overly-flexible joints; smooth or stretchy, easily-bruised skin; abnormal wound healing and scar formation; and small, fragile blood vessels. All forms of EDS affect the joints, causing hypermobility, or joints that extendbeyond the normal range of motion.
In Australia it has been found it is partially known about best people to see are occupation therapist, hand specialists, physiotherapists. If you worried see your doctor as there are many tests that can be done to help see if there is any internal issues you need to worry about.
Types of EDS
Classical - Type 1 & 2 - Skin hyperextensibility with widened atrophic scars and joint hypermobility. Skin manifestations range in severity. Skin fragility can lead to issues like hernias. Testing by abnormal elctrophoretic mobility of the proa1(V) or proa2(V) chains of collagen type V
Vascular - Type 4 - This is considered the most serious due to potential arterial or organ rupture. Skin is usually thin and translucent with veins being seen through skin. This type affects internal organs more then joints which can lead to death if not cared for correctly.
Hypermobility - Type 3 - Dominate clinical manifestation. Generalized joint hypermobility, reccuring subluxations and dislocations. Some skin involevement like hyperextensibility, smooth velvety skin as well as a tendency for bruising. Joint and limb pain is the most common complaint and can range in severity. No definitive test to date - Beighton test + Family history used so far.
Kyphoscoliosis - Type 6 - Generalized joint laxity and muscle hypotonia seen at birth. Also presents with progressive scoliosis. Tissue fragility including atrophic scars and easy bruising. Spontaneous arterial rupture can occur. Other findings may include: marfanoid habitus; micro cornea; and radiologically considerable osteopenia.
Arthrochalasia - Type 7 A&B - Congenital hip dislocation. Severe generalized joint hypermobility with recurrent subluxations. Other manifestations of this type may include: skin hyperextensibility with easy bruising; tissue fragility including atrophic scars; muscle hypotonia; Kyphoscoliosis and radiologically mild osteopenia.
Dermatosparaxis - Type 7 C - Severe skin fragility and substantial bruising. Skin texture is soft and doughy. Sagging, redundant skin is evident. The redundancy of facial skin results in an appearance resembling cutis laxa. Large hernias may also be seen. Rare.
Other types (rare) - Type 5 - very rare only seen in a single family. Type 8 Like classical type and presents with periodontal friability - very rare. Type 9, 10 and 11 Have been noted but are very rare.
For more information and support:
Ehlers Danlos Nation Foundation - where I got my info.
EDS AUS - Australian Social Group