Ehlers-Danlos syndrome 

Introduction 

Physiotherapy

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Ehlers-Danlos syndrome (EDS) is a collection of inherited conditions that fit into a larger group, known as heritable disorders of connective tissue.

Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones.

There are different types of EDS that may share some features, including:

  • joint hypermobility – increased range of movement of joints
  • stretchy skin
  • fragile skin tissue

The fragile skin and unstable joints found in EDS may be the result of faulty collagen.

Collagen is a protein in connective tissue that acts as a "glue" in the body, adding strength and elasticity. There are many different kinds, including collagens I, III and V. The type of EDS depends on which collagen is involved.

The different types of EDS are caused by alterations in certain genes that make collagen weaker. Sometimes the amount of collagen in the body is reduced. The faulty genes can be passed from parents to their child (inherited).

This information is for anyone who has been recently diagnosed with EDS, or for anyone whose child has the condition. It explains:

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.

Read more information about joint hypermobility.

Different types of EDS

The four most common types of EDS include:

There are also other, rarer, types of EDS, including dermatosparaxis and arthrochalasic. New genes have been found that explain other rare types of EDS.

Hypermobile EDS

Hypermobile EDS is the most common form. However, there is some debate over whether it is the same as joint hypermobility syndrome. Both conditions may be part of a group of several similar conditions.

There are no tests available to confirm the diagnosis or distinguish between hypermobile EDS and joint hypermobility syndrome. The diagnosis is made based on a physical examination and a person's medical history.

People with hypermobile EDS may have:

  • joint hypermobility – the joints have a wider range of movement than usual
  • loose, unstable joints that can lead to dislocations and subluxations (incomplete or partial dislocation of a joint)
  • joint pain and fatigue
  • joints that "click" and are easily bruised
  • gastrointestinal complications
  • symptoms that affect the autonomic nervous system (the nervous system that controls your automatic functions, such as breathing and urination) – this includes postural tachycardia syndrome, which causes fast heart rate, dizziness and fainting
  • mitral valve prolapse – a heart valve abnormality
  • uterine, rectal or bladder prolapse
  • urinary dysfunction
  • dental problems
  • low bone density (osteoporosis)

Classical EDS

Classical EDS (previously known as EDS types I and II) is a rare condition and many health professionals will not be familiar with the symptoms and how to treat it.

People with classical EDS may have:

  • joint hypermobility
  • loose, unstable joints that can lead to dislocations and subluxations (incomplete or partial dislocation of a joint)
  • stretchy (hyperextensible) skin
  • fragile skin that can split easily – especially over the forehead, knees, shins and elbows
  • smooth, velvety skin that bruises easily
  • wounds can be slow to heal and leave wide, papery scars
  • fragile and stretchy tissues can also result in hernias and prolapse
  • in rare cases, there may be problems with the veins and arteries

Vascular EDS 

Vascular EDS is a rare type of EDS. The condition is sometimes associated with life-threatening complications, as the blood vessels and large bowel wall are prone to rupture, causing internal bleeding.

Women with vascular EDS who become pregnant may have an increased risk of vascular complications. There is an increased risk of womb rupture in later pregnancy.

People with vascular EDS may have:

  • skin that bruises very easily because of fragile tissues
  • thin skin with visible small blood vessels, particularly on the upper chest and legs 
  • fragile blood vessels – this can lead to major complications, such as blood vessels tearing (dissection) and arterial aneurysms (artery widening with a risk of rupture)
  • risk of damage to hollow organs, such as bowel perforation or uterine rupture (where the womb tears)

Occasionally there may be other features, including:

  • hypermobility of small joints (such as fingers and toes)
  • premature ageing of the skin on hands and feet
  • unusual facial features, such as a thin nose and lips, large eyes, small earlobes and fine hair
  • joint contractures (permanent shortening of a joint)
  • partial collapse of the lung (pneumothorax)
  • gum problems, such as bleeding or receding gums
  • varicose veins in early adult life
  • wounds may take longer to heal

Kyphoscoliotic EDS

People with kyphoscoliotic EDS may have:

  • curvature of the spine – this starts in early childhood and often gets worse in the teenage years
  • loose, unstable joints that frequently lead to dislocations
  • weak muscle tone from childhood – this may cause a delay in sitting and walking, or difficulty walking if symptoms progress
  • fragile eyeballs that can easily be damaged
  • unusual shape or size of the clear front part of the eye (cornea)
  • soft, velvety skin that is stretchy, bruises easily and scars

Living with EDS

Fatigue is common in most types of EDS. If you have been diagnosed with the condition, you may find you need to conserve your energy and pace your activities.

You should avoid heavy lifting, contact sports and keeping your joints in one position for lengthy periods.

Simple measures can help protect some of your joints and help reduce pain. Exercise is important to strengthen the muscles that support the joints and so help minimise joint dislocations. Swimmingpilates and exercises that strengthen core muscles are recommended.

For children with classical EDS, it may be helpful to pad or bandage your child's lower legs and elbows during activity and pad sharp corners on furniture. This may reduce the risk of skin injury, scarring and bruising. 

However, it is important that parents are not overprotective and allow their children to live their life as normally as possible.

It is especially important that people with vascular EDS avoid contact sports and activities that involve lifting very heavy weights, sudden changes of acceleration (sprinting), or weight training.

Strenuous household tasks involving lifting or pushing large or heavy objects should also be avoided.

It is recommended that those with vascular EDS wear a medical alert bracelet.

Read more about living with EDS on the EDS Support UK website for more tips and advice on joint care, and finding a balance between rest and exercise.

Support

If you or your child are having problems with pain and movement, you can ask your GP to refer you to a physiotherapist with an understanding of hypermobility.

If necessary, your GP can refer you to an occupational therapist to help you manage daily activities and give advice on equipment that may help you.

Counselling and cognitive behavioural therapy (CBT) may be useful in helping you to cope with long-term pain. Your GP should be able to advise about local counselling services. Patient support groups such as EDS Support UK can also 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, where 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 requires further investigations.

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

For advice about persistent pain, you can speak to your GP, who may refer you to a rheumatologist or pain specialist. Read more information about living with pain.

The EDS Support UK website also offers advice about overcoming sexual difficulties associated with pain.

More information

The following links provide further information, advice and support:

Ehlers-Danlos Support UK

Hypermobility Syndromes Association (HMSA)

British Medical Journal (2007): a patient's journey

Page last reviewed: 06/05/2014

Next review due: 06/05/2016

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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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