Over the past few months, I’ve interacted with many different health care professionals – physiotherapists, rheumatologists, paediatricians, orthotists, psychologists, podiatrists and more, as well as hundreds of patients affected by hypermobility syndromes, not to mention the many health care professionals who are also patients.
It is clear that both professional and patient communities are finding the current situation relating to the diagnostic terms hypermobile Ehlers-Danlos syndrome, hypermobility spectrum disorder, and joint hypermobility syndrome confusing, and frustrating.
From the patient side:
Historically many patients have been told they are ‘just hypermobile’ or diagnosed as having joint hypermobility syndrome – and then had their symptoms dismissed and ignored. We often hear from patients who have been told they are hypermobile but ‘it doesn't cause pain or symptoms’ - leaving them without support and without understanding of how to manage their symptoms or help themselves. As a child, I was told “You are beautifully flexible, but there’s nothing wrong with you – just get on with life” - resulting in me ignoring escalating symptoms and doing all the wrong things until my early 20’s. It took years of pain and fatigue, reaching the point of being unable to get from car to desk without crutches, and horrific pain levels, before I realised that my ‘beautiful flexibility’ might be a significant factor in my health issues.
So, it is unsurprising that hypermobile adults who have suffered for years without answers and without support, feel more validated by an hEDS diagnosis (which was historically taken more seriously) rather than JHS, HSD, or symptomatic hypermobility. And equally unsurprising that parents who’ve experienced dismissal of symptoms often push for an hEDS diagnosis for a child who shows similar symptoms, in an attempt to secure the support their child needs and which they themselves weren’t given.
The 2017 criteria were seen by the majority of the patient community as a long-awaited ray of hope that they would start to be believed – and given the support they needed. Because of this, patients can perceive professionals using any terminology outside of the 2017 criteria as ‘out of touch’ - and therefore as giving incorrect advice.
Why the different professional opinions?
The 2017 papers from the EDS consortium were an important step in pulling together everything we know, and highlighting where more research is needed. A huge amount of research is needed – and a lot is happening as we speak. However, the 2017 nosology for hEDS and HSD were designed as research criteria and are not a validated diagnostic criteria, nor have they been adopted by the UK’s medical bodies.
For some professionals the low level of evidence for the 'dividing line’ between hEDS and HSD, combined with it having no impact on management or treatment, brings a lack of confidence in it as a diagnostic tool.
Some professionals have expressed concern about misdiagnosing hEDS. Such concerns include:
Science hasn’t advanced enough yet to reliably determine who has a connective tissue disorder and who doesn’t within the hEDS/HSD group (research is ongoing), nor whether those with a connective tissue disorder within this group all have the same disorder or a range of disorders.
A patient can be diagnosed as having hEDS and later turn out to have a different heritable disorder of connective tissue (HDCT). Many of the signs and symptoms on the hEDS criteria are common in connective tissue disorders (e.g. marfanoid body type, hypermobility, and tissue laxity). Key signs of other HDCTs may not be obvious, leading to an hEDS diagnosis. For example, skin involvement might not be obvious in a case of classical EDS until an injury has left a scar, or bone fragility might not be noted in someone with type 1 osteogenesis imperfecta until after several injuries. An incorrect hEDS diagnoses could delay – or even prevent; further investigation, accurate diagnosis, and appropriate management.
A diagnosis of hEDS implies a connective tissue disorder affecting collagen, so it can create unnecessary concern for people who meet the criteria but may not actually have an HDCT. This is more likely with children who are naturally more hypermobile than adults, and for whom the 2017 hEDS/HSD nosology was not designed. (Research is underway to create appropriate criteria for diagnosing HSD and hEDS in children, but this will take time).
Even if an individual medical professional diagnoses HSD, they have no diagnostic code to record the diagnosis – they have to use the code for hypermobility. There also isn’t yet enough evidence for us to know how to reliably identify which individuals within this hEDS/HSD/JHS group have a connective tissue disorder and who doesn’t, nor who is likely to develop which other linked conditions.
The result is that when it comes to the 2017 criteria for hEDS and HSD, individual medical professionals have different approaches.
Some use it 'as is‘ as ‘the best we know at the moment’.
Some use it as a basis for diagnosing but add in their own experience when making the final diagnostic decision.
Some avoid using it altogether - using more general terminology that should provide the same treatment and management options.
Some have never caught up to the previous criteria, let alone the 2017 publications,
And some are among a small (and thankfully getting smaller) number of professionals who don't ‘believe in’ hypermobility at all.
Since 2017, we have seen increasing use of symptom descriptors (such as ‘symptomatic hypermobility’) rather than specific diagnoses in hypermobile patients. In patients who show more marked symptoms of a connective tissue disorder, we’ve seen an increase in terms like ‘unidentified connective tissue disorder’ because these terms avoid the ‘misdiagnosis’ pitfalls, and at the same time flag up the appropriate potential management and treatment needs.
How do we move forward?
Given the above, it’s really not surprising that there is a lot of frustration, confusion, and miscommunication in patient and professional communities. Research is ongoing which should vastly improve the evidence base and inform future changes to the criteria. However, we need to live within the current situation for now.
My advice to professionals is: use whatever diagnostic term you believe is appropriate. If in doubt, use ‘symptomatic hypermobility’ - because it informs patient centred management. Do not leave patients without any label, because a patient needs a good understanding of their body – including hypermobility and the role it can play – in order to start to manage their condition.
My advice to patients is: Whether you are diagnosed with hEDS, HSD, JHS, symptomatic hypermobility, possible connective tissue disorder, or something similar, start to follow the management advice common to all of these diagnoses. They all have the same symptom-based approach to management, and the same potential linked conditions. Until a lot more research has been completed, the chances are that a definitive diagnosis isn’t possible because we don’t yet know exactly who should have which diagnosis, or what the significant differences are (if any) between these diagnoses. In addition, a professional who knows how to manage hEDS well will also know how to manage HSD, JHS, and symptomatic hypermobility well too.
So, until science moves on and we can reliably identify different conditions and risk factors within this group, and understand the differences between them, we will continue working to educate professionals and support patients so everyone within this group can get the support they need to live well in the body they have, whatever their diagnosis.