If you don’t know much about Ehlers-Danlos syndrome (EDS), or perhaps you’ve never even heard of it, then you’re not the only one.
In fact, many doctors are unfamiliar with it too – and, as a result, it’s seriously under-diagnosed.
“This means people aren’t getting the appropriate advice and support that they need for managing their EDS – and therefore they’re suffering for longer and becoming more ill than they need to be,” explains Lara Bloom, chief operations officer for the charity EDS UK.
Many people with EDS wait years for a diagnosis – as was the case for Bloom, who was diagnosed 11 years ago at the age of 24, despite having been living with symptoms since childhood.
What is EDS?
Two of the main characteristics of EDS are hypermobile ‘over-bendy’ joints, and associated joint pain – though, as Bloom explains, there are a whole host of potential symptoms.
Faulty genes cause collagen – the protein responsible for keeping our connective tissue strong and ‘elastic’, and therefore playing a key role in holding everything together – to become reduced or weakened.
There are different types (including hypermobility EDS, classical EDS, kyphoscoliotic EDS and vascular EDS) and it’s a chronic, life-long condition. But, with the right management, people can live full and active lives.
What are the symptoms of EDS?
“As well as joint paint, other prevalent symptoms are subluxations – which is the stage just before full dislocation – and possibly joints that dislocate often. So unstable joints,” explains Bloom. “Chronic fatigue and autonomic symptoms, like a fast heart rate, dizziness and low blood pressure when standing, and gastrointestinal problems similar to IBS, are also common.”
Stretchy skin, that may also be very fragile and prone to tearing and bruising, is another key EDS characteristic.
Is EDS serious?
Where blood vessels are involved (particularly in vascular EDS), the condition can be very serious – and even life-limiting. For the majority however, while EDS can vary greatly in severity, it can have a huge impact on quality of life, and can become debilitating and disabling.
Kids with hypermobility might find it fun to amuse their friends with how bendy their joints are but, over time, poorly supported joints can become extremely painful, weak and unstable.
Why is EDS under-diagnosed?
Lack of awareness is a big part of the problem, both among medics and the general population. But also, because symptoms can be vague and random, involving numerous body parts and functions, people might not realise that they’re all associated with one underlying cause.
“People are often misdiagnosed with things like IBS and fibromyalgia or ME,” says Bloom. “Or they’re told they’re a hypochondriac, and this can lead to further complications, like psychological implications and de-conditioning.”
De-conditioning, she explains, happens when people reduce their physical activity levels due to being in pain, and perhaps struggling with movement and mobility. Over time, however, this can lead to symptoms worsening, as the muscles and joints become ever weaker.
If there’s no cure, why is a diagnosis crucial?
Most conditions of this nature don’t have a cure, but a correct diagnosis is vital, Bloom stresses – and it means two very important things.
Firstly, it’s often a huge psychological relief. “Getting that understanding and acknowledgment, that the things you’ve been experiencing are real, you’re not going mad and you’re not a hypochondriac or just ‘unlucky’, as so many people are told, is massively important,” says Bloom.
You can learn to manage it
Secondly, it means people can hopefully start on a path towards managing their EDS – which often involves physiotherapy, advice about being active and how to avoid aggravating symptoms, and support with pain relief. CBT and counselling can be helpful for some people too, and some find complementary therapies useful for things like pain management.
I’m concerned about my symptoms - what should I do?
EDS UK runs a free helpline staffed by a registered nurse, who can talk through your symptoms with you if you are concerned and think you might have EDS. “We can also look at whether there are any helpful services in the area that you live,” says Bloom. “If not, it would be a case of speaking with your GP again.”
At present, there’s a lack of specialist centres for EDS patients across the UK, and many have to travel to the hypermobility unit at London’s UCH to see an expert.
For more information, visit the Ehlers-Danlos Support UK website or call the charity’s freephone helpline on 0800 907 8518.