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.
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.
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.
Other possible signs of EDS
Other possible signs of EDS are listed below:
- varicose veins
- limb and joint pain
- hernias, where part of an organ bulges through the surrounding muscle
- firm lumps (about 2-3cm) developing over elbows and knees, called molluscoid pseudotumours (common in classical EDS)
- small, firm 'ballbearings' felt just underneath the skin, called spheroids (common in classical EDS)
- small skin-coloured lumps in the side of the heel, called piezogenic papules, which appear when standing (common in hypermobility EDS)
- skin folds close to the eyes and nose, known as epicanthic folds, which make the bridge of the nose appear wide (typical of classical EDS)
- heart valve problems
- scoliosis (curvature of the spine), which usually develops during adolescence, although is uncommon
- gum disease (fragile, inflamed gums), which occur in periodontal EDS
Living with EDS
Some people with EDS tire very easily. If you have been diagnosed with EDS, you may find you need to conserve your energy and pace your activities.
You should avoid heavy lifting, contact sports, repeated bending and keeping your joints in one position for lengthy periods.
Simple measures can help protect some of your joints and skin from injury, such as wearing wrist supports and padding your elbows and knees. For children with classical EDS, it may be helpful to pad or bandage your child's lower legs and elbows when they go out to play and pad sharp corners on furniture. This will greatly reduce their risk of injury, scarring and bruising. But it is important not to be overprotective. Let them live their life as normally as possible.
Exercise is important to strengthen the muscles that support the joints, to help minimise joint dislocations. Swimming is recommended as it is gentle on the joints.
Visit the EDS Support Group website for more tips and advice on joint care and finding a balance between rest and exercise.
Equipment and facilities are available that can help with care and independence. Visit Carers Direct for information on accessing wheelchairs, scooters and other equipment.
Ask your GP to refer you to a physiotherapist and occupational therapist if necessary. Physiotherapy can help strengthen your muscles and is especially important for children with floppy limbs and delayed walking. An occupational therapist can help you to manage daily activities better and advise on equipment that may help you.
Counselling may be useful in helping you to cope with the disability and long-term pain. Your GP should be able to advise about local counselling services. Patient support groups such as the EDS Support Group website can be helpful.
If you want to find out more about the cause of the condition and the chance of other family members also having EDS, you can ask your GP to refer you to your local genetics service. Genetic counselling, in which you can discuss the chance of passing the condition on to future children, is available.
A specialist EDS diagnostic service was set up in 2009 for patients in England and Scotland. This service is for complex EDS, where the diagnosis of the specific form of EDS is in question. Hospital consultants can refer you to this service, but not GPs. The clinics are held in Sheffield and London. Individuals in Northern Ireland or Wales require separate funding from their health authority.
If you suffer from joint or limb pain, paracetamol or an anti-inflammatory painkiller such as ibuprofen or naproxen may be helpful. For advice about persistent pain, you can speak to your GP, who may refer you to a rheumatologist or pain specialist.
You can also try to manage your pain by:
- holding a covered hot-water bottle or an ice pack (try a bag of frozen peas wrapped in a tea towel) to the joints
- gently massaging the area with non-greasy oil (taking care if the skin is fragile and prone to tearing)
- listening to relaxation tapes
- joining a patient support group
For more advice, read our pages on Living with pain. The EDS Support Group also offers advice about overcoming sexual difficulties associated with pain.
The following links provide further information, advice and support:
Ehlers-Danlos Syndrome Support Group
British Medical Journal (2007): a patient’s journey
Ehlers-Danlos Syndrome Awareness Facebook group