Ehlers-Danlos syndrome – Find out about the signs, symptoms and treatments of Ehlers-Danlos syndrome

Ehlers-Danlos syndrome awareness month May 2015
Ehlers-Danlos syndrome awareness month 

Ehlers-Danlos syndrome (EDS) is the name for a group of rare inherited conditions that affect connective tissue.

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

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

  • an increased range of joint movement (joint hypermobility)
  • stretchy skin
  • fragile skin that breaks or bruises easily

The different types of EDS are caused by faults in certain genes that make connective tissue weaker. Depending on the type of EDS, the faulty gene may have been inherited from one parent, or both parents.

Sometimes the faulty gene isn’t inherited, but occurs in the person for the first time.

EDS can affect people in different ways. For some the condition is relatively mild, while for others their symptoms can be disabling. Some of the rare severe types can be life-threatening.

 

Main types of EDS

EDS-hypermobile type is the most common type of EDS. Rarer types include classical EDS, vascular EDS and kyphoscoliotic EDS.

EDS-hypermobile type

EDS-hypermobile type (EDS-HT), also known as hypermobile EDS or EDS type III, is often thought to be the same as or very similar to another condition called joint hypermobility syndrome.

People with EDS-HT may have:

Currently, there are no tests to confirm whether someone has EDS-HT. The diagnosis is made based on a person’s medical history and a physical examination.

Classical EDS

Classical EDS (previously EDS types I and II) is less common than hypermobile EDS and tends to affect the skin more.

People with classical EDS may have:

  • joint hypermobility
  • loose, unstable joints that dislocate easily
  • stretchy skin
  • fragile skin that can split easily – especially over the forehead, knees, shins and elbows
  • smooth, velvety skin that bruises easily
  • wounds that are slow to heal and leave wide scars
  • hernias and organ prolapse

Vascular EDS

Vascular EDS (previously EDS type IV) is a rare type of EDS and is often considered to be the most serious. It affects the blood vessels and internal organs, which can cause them to split open and lead to life-threatening bleeding.

People with vascular EDS may have:

  • skin that bruises very easily
  • thin skin with visible small blood vessels, particularly on the upper chest and legs
  • fragile blood vessels that can bulge or tear, resulting in serious internal bleeding
  • a risk of organ problems, such as the bowel tearing, the womb tearing (in late pregnancy) and partial collapse of the lung
  • hypermobile fingers and toes, unusual facial features, (such as a thin nose and lips, large eyes and small earlobes), varicose veins and delayed wound healing

Kyphoscoliotic EDS

Kyphoscoliotic EDS (previously EDS type VI) is rare.

People with kyphoscoliotic EDS may have:

  • curvature of the spine – this starts in early childhood and often gets worse in the teenage years
  • joint hypermobility
  • loose, unstable joints that dislocate easily
  • weak muscle tone from childhood (hypotonia) – this may cause a delay in sitting and walking, or difficulty walking if symptoms get worse
  • fragile eyes that can easily be damaged
  • soft, velvety skin that is stretchy, bruises easily and scars

Getting medical advice

See your GP if you have several troublesome symptoms of EDS.

You don’t usually need to worry if you only have a few symptoms and they’re not causing any problems. Joint hypermobility, for example, is common in healthy people and is unlikely to be caused by EDS if you don’t have any other symptoms.

Your GP may refer you to a joint specialist (rheumatologist) if you have problems with your joints and they suspect EDS. If there’s a possibility you may have one of the rare types of EDS, your GP can refer you to your local genetics service for an assessment.

The local genetics specialist will ask about your medical history, family history, assess your symptoms and may carry out a genetic blood test to confirm the diagnosis.

If further investigation is needed, your hospital doctor can refer you to a  specialist EDS diagnostic service based in Sheffield and London.

Living with EDS

There’s no specific treatment for EDS, but with support and advice it’s possible to manage many of the symptoms.

Adapting your activities

It’s important to be careful about activities that put a lot of strain on your joints or put you at risk of injury. However, it’s important not to be overprotective and avoid living an otherwise normal life.

Advice will depend on which type of EDS you have and how it affects you.

  • you may be advised to avoid some activities entirely, such as heavy lifting and contact sports
  • for some activities, you may need to wear appropriate protection and be taught how to reduce the strain on your joints
  • lower-risk activities, such as swimming or pilates, may be recommended to help you stay fit and healthy
  • if fatigue is a problem, you can be taught ways to conserve your energy and pace your activities

For more tips and advice on joint care, you can read about living with EDS on the Ehlers-Danlos Support UK website.

Specialist support

People with EDS may also benefit from support from a number of different healthcare professionals. For example:

  • a physiotherapist can teach you exercises to help strengthen your joints, avoid injuries and manage pain
  • an occupational therapist can help you manage daily activities and give advice on equipment that may help you
  • counselling and cognitive behavioural therapy (CBT) may be useful if you’re struggling to cope with long-term pain
  • for certain types of EDS, regular scans carried out in hospital can detect problems with internal organs
  • genetic counselling can help you learn more about the cause of your condition, how it’s inherited, and what the risks of passing it on to your children are (see below)

Your GP or consultant can refer you to these services.

How EDS is inherited

EDS can be inherited, but in some cases it occurs by chance in someone without a family history of the condition.

The two main ways that EDS is inherited are:

A person with EDS can only pass on the same type of EDS to their children. For example, the children of someone with hypermobile EDS can’t inherit vascular EDS.

The severity of the condition can vary within the same family.

Chiari malformation – What are the signs, symptoms, causes and treatments of Chiari malformations?

Chiari malformation - - what are the signs and symptoms?
Chiari malformation – – what are the signs and symptoms?

A Chiari malformation, previously called an Arnold-Chiari malformation, is where the lower part of the brain pushes down into the spinal canal.

There are four main types, but type 1, called Chiari I, is the most common.

In someone with Chiari I, the lowest part of the back of the brain extends into the spinal canal. This can put pressure on the brainstem, spinal cord, and obstruct the flow of fluid.

This page focuses on Chiari I malformations.

 

Are Chiari I malformations serious?

The severity of Chiari malformations can vary from person to person, but generally:

Chiari I malformations aren’t considered life-threatening

some people experience painful headaches, movement problems and other unpleasant symptoms (see below), but many people won’t have any symptoms

there’s a chance of developing syringomyelia (where a fluid-filled cavity called a syrinx develops in the spinal cord), which can damage the spinal cord if not treated promptly

surgery can usually stop the symptoms getting worse and can sometimes improve them, although some problems may remain

Talk to your doctor about what the condition means, what the implications may be for your health and what treatment you may need.

Symptoms of Chiari I malformations

Many people with a Chiari I malformation will not have any symptoms. Sometimes they’re only found after an (MRI) scan of the brain is carried out for another reason.

If symptoms do develop, they can include:

headaches – these are usually felt at the back of the head and may be brought on or made worse by coughing, straining, sneezing or bending over

neck pain

dizziness and balance problems

muscle weakness

numbness or tingling in the arms or legs

blurred vision, double vision and sensitivity to light

swallowing problems

hearing loss and tinnitus

feeling and being sick

difficulty sleeping (insomnia) and depression

If you develop syringomyelia, you may also experience problems using your hands, difficulty walking, pain, and problems with bladder or bowel control.

If you’ve been diagnosed with a Chiari malformation, you should contact your doctor for advice if you develop any new symptoms or your symptoms worsen.

Treatments for Chiari I malformations

Treatment for Chiari I malformation depends on whether you have any symptoms and how severe they are. You might not need any treatment if you don’t have any symptoms.

Painkillers can help relieve any headaches and neck pain.

If your headaches are severe or you have problems caused by the pressure on your spinal cord (such as movement difficulties), surgery may be recommended.

Surgery

The main operation for Chiari malformation is called decompression surgery.

Under general anaesthetic a cut is made at the back of your head and the surgeon removes a small piece of bone from the base of your skull. They may also remove a small piece of bone from the top of your spine.

This will help reduce the pressure on your brain and allow the fluid in and around your brain and spinal cord to flow normally. Read an NHS leaflet about decompression for Chiari malformation (PDF, 111kb).

Other procedures that may be necessary include:

Endoscopic third ventriculostomy (ETV) – a small hole is made in the wall of one of the cavities of the brain, releasing trapped fluid. See treating hydrocephalus for more information.

Ventriculoperitoneal shunting – a small hole is drilled into the skull and a thin tube called a catheter is passed into the brain cavity to drain trapped fluid and relieve the pressure. See treating hydrocephalus for more information.

Untethering – some children with a type 1 Chiari malformation have a tethered spinal cord, which means it is abnormally attached within the spine. Untethering involves separating the spinal cord and releasing tension in the spine. Read an NHS leaflet on tethered spinal cord (PDF, 193kb).

Spinal fixation – some people with Chiari I will have a hypermobility syndrome, such as Ehlers-Danlos syndrome, and may require surgery to stabilise their spine.

The aim of surgery is to stop existing symptoms getting any worse. Some people also experience an improvement in their symptoms, particularly their headaches.

However, surgery sometimes results in no improvement or symptoms getting worse. There’s also a small risk of serious complications, such as paralysis or a stroke.

Talk to your surgeon about the different surgical options and what the benefits and risks of each are.

Causes of Chiari I malformations

The exact cause of Chiari I malformations is unknown. It tends to be present from birth, but is normally only found in adulthood when symptoms develop or when an MRI scan is done.

Many cases are thought to be the result of part of the skull not being large enough for the brain.

Chiari I malformations can also develop in people with a tethered spinal cord, a build-up of fluid on the brain (hydrocephalus), and some types of brain tumour.

Chiari malformations can sometimes run in families. It’s possible that some children born with it may have inherited a faulty gene that caused problems with their skull development.

But the risk of passing a Chiari malformation on to your child is very small. And remember: even if your children do inherit it, they may not experience symptoms.

Common Hidden and Invisible Illnesses Explained – Please share to raise awareness

If you saw a person in a wheelchair or on crutches struggling to move, would you accuse them of milking it for attention? Not unless you were a truly malign, cold-hearted individual. If you saw a seemingly healthy person climbing out of a car that’s just been parked in a disabled parking spot, would you accost them and insist that they park elsewhere? Quite possibly, but before you do, it’s worth taking the time to consider whether that person actually does need the spot, even though they seem healthy.

There’s a little insight into the world of the hidden illness sufferer. Aside from the crippling physical pain they courageously endure on a daily basis, there’s also the frustration and torment of unsympathetic observers who take their exterior appearance at face value and believe that there’s nothing wrong. It doesn’t have to be a physical illness, either. Depression is also classified as a hidden illness, as it is a medical condition which might be highly concealed but has an enormously damaging impact on a person’s day-to-day life.

For people living with hidden illnesses, a basic degree of understanding and empathy from others is greatly appreciated. If you hear someone saying profusely that they’re feeling unwell, don’t just brush their words aside as the attention-seeking whines of a serial complainer. Ask them if there is anything you can do to make them feel a bit better. A person without a chronic illness just does not know the extent of the suffering of those with such illnesses.

This infographic from Burning Nights neatly summarises 10 of the most common hidden illnesses so that we can all obtain a small level of understanding. This include multiple sclerosis, rheumatoid arthritis, fibromyalgia, osteoarthritis, depression, Ehlers-Danlos syndrome, Lyme disease, Lupus and CRPS. Maybe the next time we see a seemingly healthy person occupying a handicapped parking space, we won’t be so hasty in our judgement.

Common Hidden Illnesses Explained [Infographic]

Conscious Crafties is a new craft website for anyone living with chronic illness, disability or caring for those affected – a guest post from Karen Thomas


Conscious Crafties
Conscious Crafties

Conscious Crafties is a craft buying and selling website for anyone living with chronic illness, disability or caring for those affected. It’s built by a Spoonie for Spoonies. My name is Karen and after becoming sick almost overnight, I found my way to various support networks. I noticed that many of us turn to crafts to help distract from our illnesses and to feel useful again. Some of us can’t work, but we still have lots to offer the world! Seeing so much untapped talent, I had the idea of a community for everyone to showcase their work, in one place and give people a way of creating their own business. It was also a way for me to feel useful again, by using my skills to help others. Using some techie magic, I help everyones crafts get found by buyers and also post on our various social networks so items get seen by hundreds.  The website and our Facebook page has only been live for just over 4 weeks and already, we have almost 1000 likes. I’m passionate this is going to be something wonderful to help so many of us.

Stories are told:

Each ‘Craftie’ gets to tell their story on the site, to spread awareness in our ‘Meet the Crafties‘ section.  They can also ‘Add Friends’ within our community and send each other messages.

Here’s my story:

In 2011 I was perfectly healthy going about my workaholic lifestyle when BOOM! – I started fainting up to 10 times a day and my bed became my best friend. A year later I was diagnosed with POTS (Postural Orthostatic Tachycardia Syndrome) a rare condition affecting the blood vessels and heart rate. There’s no cure, but reaching out to others with the same condition has been a huge help in learning to live with it.  3 years later I was told my POTS was caused by EDS (Ehlers-Danlos Syndrome) a connective tissue disorder affecting the skin, cartilage, ligaments & blood vessels – everything that holds us together! I also have some bonus conditions: fibromyalgiaraynaud’s diseasechronic pain syndrome,migraines and asthma. Life has been tough, but I’ve met some wonderfully strong friends who also live with chronic illnesses. Many have turned to craft to bring joy into their lives.  This incredible group of people are the worlds untapped talent.  Buying their beautiful handmade items (& mine!) will help to rebuild their lives.


How to get involved:

To join in the fun and start selling on ConsciousCrafties.com, apply here:

http://www.consciouscrafties.com/sell/

Buy beautiful handmade gifts here:

http://www.consciouscrafties.com/

Like us on Facebook:

https://www.facebook.com/consciouscrafties

 

Follow us on Twitter:

https://twitter.com/ConsciousCrafty

Ehlers-Danlos Syndrome Awareness Month May 2015. Share with social media.


Ehlers-Danlos syndrome awareness month  May 2015
Ehlers-Danlos syndrome awareness month May 2015

Eagle eyed readers will know that we looked at Ehlers-Danlos syndrome and hypermobility in a blog post a few months ago. For an overview of the condition please go here.  If you do have  Ehlers-Danlos syndrome it would be great if you could share your story at this blog to both help us raise awareness but also to provide support for people who have just been diagnosed with EDS.

There is one crucial development to that blog post which we would like to share.  At the time of writing it was believed that Ehlers-Danlos syndrome and hypermobility affected  1 in 5000 people.  Recent research has suggested the real figure might be 1 in 200.

As May 2015 is Ehlers-Danlos syndrome Awareness Month we thought it would be a great idea to ask our readers to help promote the event.  It would be great if you would  share the image above and use it as your Facebook profile just for the rest of the month.

Many thanks in advance for your help and support!