Ehlers-Danlos syndrome 

Introduction 

The different forms of Ehlers-Danlos syndrome

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.

Some people share features of more than one form of the condition.

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.  

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.

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.

Managing pain

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.

More information

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

Page last reviewed: 25/10/2011

Next review due: 25/10/2013

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Comments

The 9 comments posted are personal views. Any information they give has not been checked and may not be accurate.

ethered said on 06 March 2013

i have the hypermobility type, a less severe form than some and was lucky it was at last diagnosed some years ago.All i can say is that it affects all everyday life, rest is very important, and I agree the information is poor. Pain is always a problem, and tiredness , and exercise worsens this, and has to be done very carefully to try to strengthen muscles. Another problem, is that at times when muscles are naturally weaker, e.g. illness, then of course there is more strain on ligaments, and more pain, and there is the need to be especially careful to try to prevent ligaments over stretching . And the need to rest for longer after illness. And - at times when women's ligaments are made laxer by their hormones (e.g.during the menstrual cycle etc) - then things can be much more painful. And again, there is the need to be more careful.

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frogsroz said on 14 February 2013

Adverse comments have been made about this page over the last year.

What is the NHS doing about improving the page?

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bellared said on 28 December 2012

I am 29 and Suffer from eds type 3,iv recently found out I'm pregnant thought the best place to look for information on the thousands of questions and worries would be on the. Nhs website,how wrong was I!I have never read such an ill thought out or ill informed article in all my life,in fact it has brought me to tears because I have been struggling with doctors lack of knowledge,understanding and empathy for years and I had hoped it would get better but after reading this I feel utterly hopeless!type 3 here is described as having occasionally painful joints after !try utter agony constantly!I'm so disabled by the daily dislocation I can barely get from my bed let alone !the people who write these articles really should speak to people who have eds because this kind of thing is so damaging to peoples understanding of this disabling condition. No wonder it is so hard to get even basic help from health professionals.when will things ever change!

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marisaj said on 21 September 2012

I find the information on this site extremely lacking and doesn't begin to even list all the symptoms that come with this condition. If this is the understanding that the nhs has of this condition it's not a surprise that after over 30 years of frequent dislocations, (jaw dislocates when I brush my teeth or yawn, shoulders pop out during sleep, thigh doesn't have a clue as to where it should go in relation to my pelvis), hypermobility in all my joints, restless leg syndrome, bruising for no reason, varicose veins, palpitations, frequent chest infection with my lungs closing down completely, random intense joint and bone pain, I could go on) etc, that various doctors have failed to put it together. I've finally been referred to a rheumatologist by my gp but I felt that not only was I left to find my own diagnosis through my own research after gleaning tit bits of info from various doctors, I've had to fight hard to get it. My GP told me that there wasn't any point seeing anyone for a proper diagnosis since they'd probably tell me the same thing. This was after I complained that my physiotherapist was causing me more complications and pain??? I'm fed up of the arrogance of med profs who essentially accused me of being an attention seeker and told me that my pain didn't exist. Fed up of nhs taking a whole year of fobbing me off with the results of xrays before doing MRIs that show torn ligaments all over the place. Maybe if doctors believed in what their patients were telling them they'd diagnose correctly sooner.

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kazziehale said on 29 July 2012

This saddens me I live with this and so does my daughter I have now been bed bound for 6 days and have still yet to find a professional in my area with knowledge of our illness who can help us deal with the pain and suffering and illness we live with day in day out instead of being passed from pillar to post for years on end like I have been being made to feel like I'm imagining it all or "I'm stressed " that's the most frequent medical advice I get told I'm 28 years old and I feel like my body has given up no life in it no more it hurts to do everything and now have to endure my 2 year old daughter suffering from a baby vascular problems in her legs causing leakage and bruising resulting in accusations of abuse at us from medical professions until we fought til we were black and blue in the face with medics to help her seeing her no crawl not walk not stand on her legs my precious princess and now seeing her in pain saying mummy my legs hurt when all she wants to do is play and run with the other children something seriously needs addressing !

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Fairymaid said on 17 July 2012

I was diagnosed 2012 with BHms at 43 yrs old and have had all my life unknowingly!
this was diagnosed via Neurologist, after being passed Rheumotologist and pain management and Neuro Surgeon as i have discs indenting on spinal cord causing compression on nerves, which what came on my Cervical MRI as it should only affect one side of my body and i have on both, hence the passing pillar to post! I have had 2 hernias teh 2nd of which i had nerve trapment in surgery and had to go back to surgery and since then this is where the trouble started as for the past 2yrs and 2 months i have severely suffered and now on Lyrica for the nerve pain. I also had my neck go 3 times in 2011 hence again the MRI. aslo over time and years i have had sprains and broken bokens and was also a bit accident prone and did things opposite in school activities. I have had 4 children and had fluid loss in my 4th, i had a very rare form of glandular fever at 19, i was diagnosed with IBS at 18 and was put on Beta blockers in 2005 due to rapid pulse being double the speed of average person. I have stretch marks and also have suffered Thrombosis, migraines, subsequent water infections with protein in my waters, so what i want to know is where do i go and what will havppen next, as my hands are painful, i trip, fall, co-ordination, thinking memory (short) i also had eyes tested in 2010 after my hernia operation and found i had astigmatistism which my eyesight was great prior. I am now seeing a Brain specialist and this is apparently to help me cope with whats going on ..i will not hear that the fatigue i suffer is anythign to do with my memory! I struggle up and down stairs, my feet feel like i am walking on bones i get a terrible band around my ribs and back and my legs give unpredictably. I am self-employed and had to give up the physical side of work and employ help and i struggle at home with light work including the washing in and out of machine, peeling of veg, my arms are so weak ??/

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Sunflowa said on 12 April 2012

EDS is a very complex condition and I understand that no Overview of this kind can go into the complexities of the condition. However, as an EDS hypermobile I do take exception to the description of hypermobility which states that joints 'occasionally' dislocate. I haven't yet met a fellow sufferer who reported this. We all have regular, if not daily, dislocations and to say these joints can be 'popped' back in would be laughable if it wasn't so dangerous. You pop a sweet into your mouth or pop out to the shops - you don't 'pop' a shoulder or a knee back in. Quite apart from the excruciating pain there is often the chance of ligament or nerve damage as well if not fracture.
I was also surprized that no where in any of the descriptions is there a mention of autonomic system problems such as Postural Orthostatic Tachycardia Syndrome (POTs) or anything on FUnctional Gastrointestinal Disorders (FGIDs). Gastrointestinal symptoms (GI) are really common in EDS suffers and yet there is no mention of them in your Overview.

The NHS is really really bad at diagnosing this condition and almost as bad at looking after those with it. Reading this Overview makes me realise why. It is woefully lacking in up-to-date information and very misleading. It is OFTEN a disabling, debilitating, life changing condition which can cause constant physical pain and mental anguish.

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User642786 said on 07 February 2012

As my comments are always apparently unacceptable i will simply agree with what triallia.

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Trialia said on 21 January 2012

Who wrote this article? They can't have done much research or study on EDS, it is terribly inaccurate about the hypermobility type in particular.

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