Ehlers-Danlos syndrome causes problems with the skin and joints.
Dr Rob Hicks last medically reviewed this article in February 2008
On this page
- What is it?
- What causes it?
- What are the symptoms?
- Who's affected?
- What's the treatment?
- Advice and support
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What is it?
Ehlers-Danlos syndrome (EDS) encompasses several types of inherited connective tissue disorders.
Connective tissue provides support to parts of the body such as the skin and muscles, but in EDS the collagen that gives strength and elasticity to connective tissue is faulty.
This results in hyperelastic skin that's fragile and bruises easily, excessive looseness of the joints, blood vessels that are easily damaged and, rarely, rupture of internal organs.
There are six major types of EDS, categorised according to signs and symptoms, and the condition can range from mild to life-threatening.
What causes it?
Different forms of EDS result from defects in different genes that may arise through autosomal dominant, autosomal recessive or x-linked inheritance patterns.
What are the symptoms?
These range from mild to severe and include:
- Increased joint mobility
- Loose joints that are hypermobile and prone to dislocation
- Skin that's easily damaged, bruised and very stretchy
- Visual difficulties
- Peg teeth
Complications that may arise include:
- Poor wound healing
- Early onset osteoarthritis
- Rupture of blood vessels, hollow organs such as the lung or bowel, and the eyeball
Who's affected?
It's estimated that about one in 5,000 people is affected, from both sexes and all racial and ethnic backgrounds.
What's the treatment?
There's no cure or specific treatment for EDS. Problems are treated as they arise.
Measures to reduce accidental trauma are important, such as protecting the elbows and lower legs in children who may fall frequently. Braces may be used to support unstable joints and orthopaedic surgery may be needed.
Physiotherapy and occupational therapy advice can help. Psychological support is also important, particularly when skin damage results in visible scarring and disfigurement.
Antenatal tests are available for three types of the condition, as well as genetic counselling for people with a family history of EDS.
Advice and support
Ehlers-Danlos Support Group
- Tel: 01252 690940
- Website: www.ehlers-danlos.org
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