Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of inherited conditions that affect collagen proteins in the body. Typical features are stretchy skin, loose joints and fragile body tissues.
Collagen is a building block that strengthens and supports various body tissues. It is found in tendons, ligaments, cartilage, skin, bone, blood vessels, the gut and the spine.
EDS is caused by alterations in certain genes, which make collagen weaker. Sometimes the amount of collagen in the body is reduced. The faulty genes can be passed from parents to their children.
EDS affects at least one person in 5,000 in the UK, although research is showing that this may be an underestimate.
This information is for anyone who has been recently diagnosed with EDS, or for anyone whose child has the condition. It explains:

Common features of EDS

There are various different forms of EDS. All share some common features, such as loose joints, abnormal skin and fragile body tissues, but each form of EDS has unique characteristics too.
The forms of Ehlers-Danlos syndrome (EDS) can be defined as follows:

  • Classical – the skin is stretchy, soft, fragile and elastic. The joints are loose and flexible.
  • Hypermobility – the joints are noticeably loose, flexible and sometimes painful, particularly after exercise. Unlike with other types of EDS, the skin is virtually normal, except for easy bruising.
  • Vascular – this is the most severe type, as it means organs and blood vessels can easily burst.
  • Kyphoscoliotic – the spine is severely curved in childhood.
  • Arthrochalasia – this causes short stature, fragile skin and joints that easily dislocate.
  • Dermatospraxis – the skin is doughy and wrinkly, and tends to sag and fold. This type is exceptionally rare, probably affecting fewer than five patients in the UK.
  • Periodontal – this form resembles classical EDS, but also causes very fragile gums.

The general features are described in more detail below.

Hypermobile joints

People with EDS typically have loose joints, which means the limbs bend more than usual. This can cause floppy joints in infancy, and some affected children take longer to sit, stand and walk.
Hypermobility EDS is the most common form. The joints can sometimes be very unstable and may dislocate easily.
In other forms of EDS (such as kyphoscoliotic and arthrochalasia EDS), the looseness of the joints tends to be more disabling and dislocations may happen frequently. Joint instability may occasionally lead to osteoarthritis, but this is uncommon and occurs mostly in adults.
For more information on loose joints, read our pages on Joint hypermobility.

Abnormal skin

In all forms of EDS the skin is stretchier than normal. It easily pulls away from the body and springs back once released (this is best tested at the neck, elbows or knees).
Bruising of the skin is common in most forms of EDS because small surface blood vessels may be fragile and break easily.
In classical EDS, skin can also be extremely fragile and can split easily, especially over the forehead, knees, shins and elbows. The scars can be wide and papery.
In the very rare dermatospraxis form of EDS, the skin is severely fragile, saggy and wrinkly. There may be obvious looseness of the facial skin.
In vascular EDS, the skin is often transparent, particularly over the chest, and the veins underneath are easily visible. People with other forms of EDS may also have slightly thinner skin than usual.

Fragile body tissues

Increased stretchiness and fragility of ligaments, tendons and joint tissues makes them prone to overstretching or even tearing (ligaments are tissues that connect bones together at a joint, and tendons connect bone to muscle). Therefore, limbs may be floppy because they are not properly supported.
In vascular EDS, certain body tissues and organs are particularly delicate. Blood vessels, bowel walls and lung linings may be easily torn, causing internal bleeding. Pregnancy in women with vascular EDS can be dangerous because the womb lining is fragile.

Read Full Article: NHS Choices

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