Ehlers–Danlos Syndrome

Hypermobility and the Ehlers–Danlos Syndromes

Our bodies are bound with different forms of connective tissue which act as a binding and supportive internal matrix for our organs and other specialised structures. This provides surface coatings, forms restraining mechanism for ligaments and tendons, provides attachment points for muscles in the form of deep fascia, and facilitates smooth movements of limbs (among other things). Hypermobility disorders have a defect with the production of functional connective tissue, namely collagen, which causes a range of diverse symptoms in the body that may appear unconnected.

These diverse symptoms, while obviously concerning and upsetting for sufferers, also create a confusing picture for diagnosis by GPs and specialists. Another challenge is the spectrum of various hypermobility disorders and the overlap of symptoms between them and the rarer Ehlers–Danlos syndromes (EDS). A lack of awareness by clinicians about these disorders and confusion of overlapping of symptoms can lead to people with EDS being undiagnosed, feeling unheard or even disregarded.

The range of connective tissue disorders includes: generalised joint hypermobility (GJH), hypermobility spectrum disorder (HSD), hypermobile Ehlers–Danlos syndrome (hEDS) and other subtypes of EDS (13 in total). There are also other connective tissue disorders such as Marfan syndrome (fibrillin-1 protein), Loeys–Dietz syndrome and familial thoracic aortic aneurysm and dissection. Hypermobile EDS (hEDS) is often thought to be the same or very similar to generalised joint hypermobility (GJH) syndrome and therefore is often under diagnosed and is not technically a rare disorder at all. The other forms of EDS are rare however.

The picture is complicated, and symptoms can range from asymptomatic joint hypermobility – someone who has no symptoms apart from their joints’ ability to move beyond normal limits – through to extensive impact upon many organs in the body with potential life-threatening consequences.

Prevalence of all types of EDS combined are estimated to be 1:2,500–5,000, with Hypermobile EDS making up 80–90% of all EDS cases.

Symptoms

For many people with EDS the skin and joints are affected, and some common symptoms include:

  • Hypermobility – Joints that are too loose and more flexible than normal. Loose joints can lead to problems like dislocation (when a joint can pop out of place) or subluxation (joint moves out of place but not completely) and accompanied pain.
  • Hyperextensibility – When pulled, the skin stretches more than normal. This is more prevalent in the classical form of Ehlers–Danlos syndrome (cEDS). Skin may also be soft, velvety and fragile. Stretchy skin might not be present in hEDS.
  • Abnormal scarring – People with cEDS experience wounds that split open with little bleeding, leaving scars that widen over time to create characteristic “cigarette paper” scars.
  • Rupture of blood vessels and organs – Some forms of EDS, notably the vascular type (5–10% of cases)  and to a lesser extent the kyphoscoliosis and classical types, can involve serious and potentially life-threatening complications due to unpredictable rupture of blood vessels and organs. This rupture can cause internal bleeding, stroke and shock.

It is important to note that severe cases of any type of EDS can have potentially life-threatening complications.

More detailed information on EDS symptoms and types can be found at the website of The Ehler–Danlos Society and the Ehlers-Danlos syndrome page on the Genetics Home Research website.

Other symptoms commonly include, but are not limited to: long-term pain, chronic fatigue, postural orthostatic tachycardia syndrome (POTS); heart rhythm problems, mast cell activation syndrome (MCAS), digestive disorders and neurological issues that stem from an unstable cervical spine or Chiari malformation. Such problems and their severity vary considerably from person to person, even in the same type of EDS and within the same family.

2017 International Classification of EDS

The importance of having increased awareness and clarification of EDS led to an international symposium in New York City in May 2017. A paper entitled ‘The 2017 International Classification of EDS’ was published in the American Journal of Medical Genetics 175C:8-26 (2017). The new classification provides clarification of the complex forms of EDS into clear subtypes and gives the genetic variants with suggestive clinical criteria for determining between subtypes*. It recognises 13 subtypes – most types are caused by a problem with one or more genes but the most common form of EDS (hEDS) does not have a yet-recognised genetic defect. Classification of EDS is clinically orientated (looking for certain symptoms and features to ascertain the type) although genetic testing is important for a definitive diagnosis of the subtypes (except hEDS). The journal supplement also includes 16 other articles and reviews containing the latest research and knowledge of EDS.

*Dr Clair Francomanao and Lara Bloom present a webinar through The Ehlers–Danlos Society which provides an overview and explanation of the 2017 International Classification of EDS.

Diagnosis

Before a diagnosis can be investigated, the medical practitioner must recognise the pattern of symptoms as being related to hypermobility and have some awareness of EDS. Then the potential of EDS must be ruled out first to prevent avoidable harm, physical damage and even life-threatening consequences.

To determine which specific disorder is involved a detailed history is required including: family history of hypermobility (as EDS has a genetic component), stretchy skin (cEDS), repeated subluxations/dislocations, easy bruising and associated symptoms such as fatigue, headaches, sleep disturbance, POTS, GI issues and mast cell activation syndrome (allergic histamine reactions).

A diagnostic criteria checklist exists for doctors to use to help them make a diagnosis of hEDS, which the most prevalent form of EDS. Having a knowledgeable GP or at least a GP who is interested in learning about the condition and open to hearing the patient’s diverse symptoms to build the picture towards a diagnosis is extremely important. Since many EDS patients have been told for many years that it’s “all in their head”, assuring them that their symptoms are real and possibly all part of one disorder is immense, often deeply emotive and vindicating for that patient.

Patients’ perspective. An invisible disease.

As there are no overt signs the person is dealing with this health condition it can lead to many social, psychological and physical challenges. The first challenge is being taken seriously at the diagnosis step and having a clinician listen to the symptoms. Some clinicians have no awareness of what EDS is and therefore are not best resourced to adeptly diagnose and treat it. This leads to people feeling they need to learn about the disorder themselves and then to advocate for their own needs – the value of having support groups and online communities is immense. The sense of connection and belonging cannot be underestimated, especially if faced with doubts from the medical practitioners.

There currently is no cure for EDS so the only option is to learn to live with the condition and gain the best treatment available to treat the many, varied symptoms. This leads to understandable deep frustration which is best expressed by the EDS community’s voice itself. For this purpose, some questions were posed to the EDS community online and a few key themes are highlighted.

Main challenges encountered:

  • Gaining a diagnosis, being misdiagnosed or disregarded, being told it’s all in one’s head, not being taken seriously, being disbelieved, getting doctors to listen.
  • Doctors and specialists not having the knowledge base to know how to treat EDS or at least not having current best practice knowledge. This includes awareness of co-morbidities that can accompany the diagnosis of EDS.
  • Pain and fatigue and a lack of understanding in the wider community and some families/whanau – people assuming “I’m not disabled enough” so gain no practical support.

Most helpful aspects:

  • Support from peers who have EDS. The internet and online community support systems including Loosely Speaking, the NZ Ehlers–Danlos Facebook support group and The Ehlers–Danlos Society.
  • Good pain management and service delivery
  • Being listened to and respected by clinicians and having a great specialist and physiotherapist with expertise in EDS
  • GP and allied health professionals who have experience of EDS or interest and acceptance in learning more about it alongside their EDS patient.

Best advice for a person to have at start of EDS journey:

  • A list of the most common issues with action plan to mitigate risks (i.e. awareness that damage can occur with some sports and activities)
  • Getting the right clinical team – finding a clinician who has the care, interest and knowledge of EDS
  • Develop one’s own knowledge through reputable sources (NZORD can offer a great starting place for this as it gives access to large international databases which are evidence based)
  • Connect with others who are dealing with the same condition through a support group
  • Be proactive with bureaucracy and keep all medical information safely stored and clear for each clinician to follow (take a notebook)
  • To ask to be screened for co-morbidities associated with EDS.

Future wishes for EDS:

  • Improvement in awareness with public and medical establishment
  • A clear guideline for clinicians to determine a diagnosis swiftly
  • Great multi-disciplinary teams led by one specific primary specialist who can offer oversight of co-ordinated care for EDS patients
  • To have a directory of GPs, specialists and allied health professionals with the knowledge and capability to treat EDS patients.

Frequency

Refer to the Ehlers–Danlos syndrome page on the Genetics Home Research website.

Support websites

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