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This article aims to look at the reasons why some experts would like Ehlers-Danlos Syndrome Hypermobility Type and Hypermobility Syndrome to be united, along with some examples of the worries and concerns regarding this ‘unity’, often expressed by those who are likely to be most affected by this re-education drive – the patients themselves.
For many years there has been considerable debate regarding whether Hypermobility Syndrome (also known as Joint Hypermobility Syndrome) is the same as Ehlers-Danlos Hypermobility Type (EDS-H), or whether it is a distinct and separate condition. It may be that Hypermobility Syndrome is a 'similar' condition, or, it may be that it is one of an (as-yet) undentified ‘sub-group’ of conditions that form part of the same heritable disorder of the connective tissue. It is also possible that HMS and EDS-H are one and the same and have been identified separately, but virtually simultaneously, by two different medical specialities i.e Hypermobility Syndrome by rheumatologists and Ehlers-Danlos Syndrome Hypermobility Type by geneticists.
Both conditions appear to be characterised by the symptoms described in the section of this website labled 'Symptoms' (see 'What is EDHS' section of the main menu), so, for many experts, the distinction between Hypermobility Syndrome, and the hypermobile type of Ehlers-Danlos Syndrome is not an important one clinically, especially as the treatment and management of both conditions is generally the same. Bearing this in mind, why would we not want to combine the two conditions? Wouldn’t a re-classification, combining both conditions, simplify things greatly?
To date, the decision of whether to diagnose EDS-H or HMS and the interpretation of the criteria used, has been left to a medical professional’s personal preference or belief, often infulenced by whether they come from a rheumatological or genetics background. Many simply choose to use the terminology with which they are most familiar.
The Criteria to which medical professionals refer (the Brighton Criteria and the Beighton Score), was last updated over a decade and a half ago and most would agree that their classifications need updating again to reflect new findings and current understanding.
Would a formal re-classification, stating that the groups form part of the same spectrum, or, are even one and the same, make a significant difference?
For those diagnosed with Hypermobility Syndrome, it would seem that this could be the case. Using the name ‘Ehlers-Danlos Syndrome Hypermobility Type’ instead of Hypermobility Syndrome, is perceived, by some, as improving the likelihood of being taken seriously and receiving proactive treatment within the medical community. It is certainly mentioned by many patients, that using the terminology ‘EDS-H’ often prompts a noticeable difference in doctor’s attitudes and their willingness to refer patients for treatment, compared to a written diagnosis of Hypermobility Syndrome.
One parent explains:
'Our daughter was diagnosed right from the start with EDSH (possibly with
Classical Type ‘crossovers’), due to the severity of the problems she was having. I believe that, to some extent, this smoothed her pathway a little, in terms of people believing her; schools, doctors, hospitals etc. A parent, we have come to know, has a child in the same school year as our daughter. Their daughter received a diagnosis of HMS, from a different medical practitioner. Even though her symptoms were almost identical to our child's, they have struggled significantly to have the same level of support and understanding from the education authorities and their GP – it seemed to us that the wording of the diagnosis made a significant difference.’
This experience is not, of course, the same for everyone. Many people feel that HMS is the diagnosis that best describes their condition; they do not use the term EDH-S, or are happy for it be interchangeable, and would just like the medical world to better understand the range and severity of possible symptoms.
In some situations, could the 'consideration' of a possible diagnosis of EDS-H, rather than HMS, even save lives?
The potential to Identify ‘crossover symptoms’, or the potential that a patient’s hypermobility might be caused by one of the rarer, more life threatening forms of EDS, appears to be another positive reason for perceiving the conditions as part of the same spectrum, or one and the same.
It is accepted by specialists in the condition, that it is rare for a case of Ehlers-Danlos Syndrome to fit neatly into a single category (Type). There are six main types of Ehlers-Danlos Syndrome and it is not unusual for a patient, diagnosed with one type, to also have ‘crossovers’ from another type. The most common example would be the patient with EDS Hypermobile Type who may also be diagnosed with ‘crossovers’ from the Classical Type, and visa versa. It is important to realise that although the classifications of each ‘type’ were defined in the Villefranche Classification in 1997, in reality, it is almost impossible to compartmentalise a complex condition like Ehlers-Danlos Syndrome into neat boxes. The defined ‘Types’ are intended as a ‘guide’ to physicians. As the genetic causations are discovered, classifications such as that defined at Villefranche will need to be modified to reflect specific ‘subgroups’ that, as yet, remain unidentified.
When diagnosing EDS, the possiblilty of crossover symptoms and checks for signs of other forms of EDS, are usually taken into consideration from the outset. These potential connections can be missed, however, if a patient has a diagnosis of Hypermobility Syndrome, so that, when seemingly unrelated symptoms are mentioned by a HMS patient, no alarm bells ring in the head of the medical professional, no tests are carried out to check for invisible complications, such as the tissue fragility and poor wound healing often associated with Classical Type, or the risk of arterial rupture linked with the Kyphoscoliosis Type. In some situations, where the more rare forms of EDS are involved, this failure to consider the type of EDS which underlies a patient’s hypermobility, could even be life threatening.
Of particular concern to many patients already diagnosed with EDS-H, is the question: Will this re-classification benefit everybody?
Those with EDS-H understand the theory that combining the conditions could well result in better recognition, treatment and understanding for those with HMS, but often express concerns that it may also lead to a trivialisation of the severity of the symptoms and ‘rare condition' classification given to those already diagnosed with EDS-H in the eyes of the medical world? Many have fought long and hard to have this under-recognised condition diagnosed and to have their symptoms taken seriously. Some feel there is a considerable risk that, instead of doctors believing that HMS should be taken as seriously as EDS-H, the opposite may happen, with doctors, instead, taking the view that EDS-H is not, after all, a particularly serious condition, it is, instead, 'just' Hypermobility Syndrome.
Unfortunately, It is impossible to know the answer to this question, as only time will tell.
Those who favour the intergration will argue that, as long as the medical world is ‘properly’ re-educated, it can only improve things and will make no difference to the way those with EDS-H are perceived and treated. However, anyone who has experienced the massive lack of understanding and the misconceptions that already exist, may suspect that this re-education will be a long uphill struggle with a potential for ‘misinterpretation-casualties’ along the way.
In the paper entitled: The Lack of Clinical Distinction Between the Hypermobility Type of Ehlers–Danlos Syndrome and the Joint Hypermobility Syndrome (a.k.a. Hypermobility Syndrome), experts Brad Tinkle, Howard Bird, Howard Levey, Rodney Grahame et al, explain their reasons for believing that those with HMS and those with EDS-H would be better served if the conditions were recognised as representing the same phenotypic group (a group with the same observable characteristics).
‘Ultimately, a more appropriate “label” for this group is needed. As the genetic etiologies are discovered, we will likely find specific subgroups. In addition, by “lumping” all those with such strong phenotypic similarities, we may also be able to better define subtle differences in the phenotypic spectrum… that may facilitate future differentiation based upon genotype’.
It is our collective opinion that BJHS/HMS and EDS Hypermobility Type represent the same phenotypic group of patients that can be differentiated from other Hertitable Connective Tissue Disorders, but not distinguished from each other.
Clinically, we serve this population better by uniting the two diagnostic labels. With this approach, we can strive to better define the phenotype and improve measurable outcomes of this patient population.
Dr Jaime F. Bravo, MD, adds weight to this line of thinking when he states:
..the name that we have been using (HMS), diverts the awareness of this disease, and is the reason for the lack of interest by physicians and poor understanding of this disease by patients and public in general.'
Dr Heidi Collins MD, who is an EDS/HMS patient herself, as well as a medical professional, gave her support to the combining of the two conditions at the 2011 EDNF Educational Conference, stating:
'Modern technology has allowed patients (with EDS and HMS) to find one another and be heard. A voice, previously unheard, gains strength in numbers. Medical Professionals need to ‘recognise EDS/HMS (as one) and differentiate it from other “less rare and exotic” conditions.’
Others, however, are more temperate in their statements, preferring instead to acknowledge that the conditions ‘form part of the same spectrum of heritable disorders of the connective tissue’.
For example, in his 2010 article, Dr Alan Pocinki writes:
‘People with lax joints fall along a broad spectrum, from those with joint hypermobility, but only mild or no related symptoms, to those moderately affected by JHS (HMS), and onwards to those more severely affected, many of whom truly have the hypermobile type of EDS.’
But what about the studies carried out by Lars Arendt-Neilson, which seemingly established a possible method for differentiating between EDS-H and HMS by testing patient's responses to analgesics?
A query, frequently raised by those diagnosed with EDS-H, relates to studies carried out by Lars Arendt-Nielsen et al in the early 1990’s:
The study set out to ascertain whether patients with Ehlers-Danlos Hypermobile Type could be separated from patients with ‘simple hypermobility’, by assessing their reaction (or lack of) to topical analgesic applied to the skin. Research was also carried out into the effects of the analgesic lidocaine, injected just beneath the skin. It was found that the analgaesic relief of both were significantly less effective, and lasted for a shorter length of time, in the Ehlers-Danlos patients, compared to controls and to those with ‘simple hypermobility’, when subjected to laser stimulation and to needle insertation into the skin.
Surely the results from these studies, prove that Ehlers-Danlos Hypermobile Type can be shown to be different from Hypermobility Syndrome? - but let’s consider this more closely:
In an article, published in the Hypermobility Syndromes Association’s Guide to Living with Hypermobility Syndrome’, Prof. Arendt-Nielsen endevours to better explain the research that he and his colleagues carried out. He states that the studies were carried out on patients from three groups:
Patients diagnosed with EDS-Hypermobile Type
Patients with ‘Simple’ hypermobility.
As we know, many of the population are hypermobile (classed as having ‘simple’ hypermobility), and these patients may experience no problems relating to their hypermobility throughout their lives. There is, therefore, a difference between these people and those who suffer from ‘Hypermobility Syndrome’ (now thought to be part of the same spectrum as EDS-Hypermobile Type).
It seems unclear therefore, whether these studies were actually separating:
those with EDS-Hypermobility Type from those with Hypermobility Syndrome
or, whether the studies was actually showing results, which separated:
those with EDS-Hypermobility Type (many of whom could well have been diagnosed as having Hypermobility Syndrome had an alternative specialist, using different terminology, carried out their assessment) from those with ‘Simple’ Hypermobility.
Certainly it would seem, from surveys carried out by the Hypermobility Syndromes Association, that patients with Hypermobility Syndrome most definitely do experience problems with anaesthetic. In one large survey, patients diagnosed with Hypermobility Syndrome were 3 times more likely to report the poor effectiveness of local anaesthetic compared to people without the condition. This would seem to lend weight to the theory that, Hypermobility Syndrome and EDS-Hypermobile Type are one and the same. Of course, it could also be argued that the many people with HMS, who responded to the survey, stating they had problems with analgaesic relief, have actually been mis-diagnosed in the past and should, in fact, have received a diagnosis of EDS-Hypermobility Type anyway.
‘A large proportion of people with Joint Hypermobility Syndrome (JHS) and Ehlers Danlos – Hypermobility Type appear to be resistant to local anaesthetics either as topical creams or injections’ (Quote: Dr Alan Hakim - a medical advisor to the EDS Support UK and Chief Medical Advisor of the Hypermobility Syndrome Association )
NB/ It should be noted that many people with EDS-H and HMS also report a significant lack of response to anaesthetics used in dental work and epidural administration. As yet, the mechanisms that cause this lack of response are not understood.
Will the combination of the two conditions improve the likelihood of larger scale research commencing?
If the two conditions (HMS and EDS-H) are placed together, as experts such as Prof. Grahame and Dr Brad Tinkle, would like, their belief is that this will provide a large enough population base for the research world to take notice, for clinical trials to be kick-started and therapy protocols to be met.
Some will continue to think that 'lumping' the conditions together will ‘skew’ the tests and research being carried out into EDS-H, obscuring research results badly. After all, best practices require the elimination of confounders and, it would seem, that these experts propose to add more.
Many hope however, that it is actually more likely that the results from research, on a combined group, will finally prove the two conditions are definitely spectrum based.
In the 1980’s the statistic for the incidence of autism was 1 in 5000. It was deemed ‘rare’. Now it is 1 in 150 or so. Part of this new understanding occured because of the recognition of the ‘spectrum’ aspect of Autism – which now includes Aspergers Syndrome and all of the mild, moderate and severe levels of Autism involved.
Why not introduce a classification scale (from 1-10) with those least affected at the bottom and those most affected at the top?
At first glance, creating an easy to use scale, or grading system for the combined conditions of HMS and EDS-H would seem the most logical way forward, In reality however, the combinations of symptoms are so varied, even between symptomatic members of the same family, that it would be very, very difficult to place them on a pre-defined scale, or to even begin to pre-define a scale in the first place.
For example, should someone who experiences an average of ten profound dislocations a month and has debilitating gastrointestinal symptoms, be placed higher or lower on ‘the scale’ than someone who suffers overwhelming periods of fatigue, chronic pain and severe Postural Orthostatic Tachycardia?
So, why not just agree to use the term HMS to describe those with lesser symptoms and term EDS-H for those with more severe symptoms?
One potential option to address the situation could be that doctors agree to use one term rather than the other, dependent on the type and severity of issues present. The term HMS might be the 'preferred term' if the principle issue is one of joint pain around hypermobile non-dislocating joints with few other signs. The name EDS-H could then be reserved for individuals who have all other findings, such as severe dislocations, more severe skin signs, etc.
In 2012 Philippe Delvenne, Gérald E. Piérard and Daniel Manicourt et al, carried out research into the dermal ultrastructure of those affected by EDHS. They compared skin ultrastructural abnormalities of EDSH and BJHS (HMS) among different families. The team found that similar ultrastructural abnormalities were found, irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well.
They concluded: 'We support the concept that BJHS (a.k.a. HMS) represents a mild variant of EDSH.'
This could, therefore, be a good place to start from now on, when diagnosing brand new patients in clinic and may be the way forward. In order to be truly relevant to all those who have been diagnosed to-date, however, this option would most likely require some sort of mass clinical re-evaluation, where every person diagnosed with HMS or EDSH to-date, would need to be seen again to re-evaluate which of the conditions they actually have, based on whatever new defining criteria had been agreed upon and how much their symptoms have changed since their original diagnosis. It seems unlikely that there would ever be the necessary funding, or that the logistics of such a re-evaluation could be organised.
Is it really wise to promote such a massive re-education of the medical world before anyone can be absolutely certain that EDS-H and HMS are the same?
What will happen if research ultimately finds the genetic mutations involved are different? The whole of the medical world will have to re-educated again. The resulting confusion and damage to credibility could be massive.
It seems, however, that most accept this is a risk worth taking, in order to better help those who need it right now, rather than at some point in the future, ‘when’ or ‘if definitive proof is found.
Attracting scientific interest and research funding will play a vital role in moving forward with genetic and rheumatological understanding and management of the conditions. Without it, little progress will be made. If the best way to achieve this is to combine the two conditions, then maybe this is what must be done, despite some well-founded concerns. Some may see this as ‘manipulating the system’ to get what is needed, but experience tells us that the more people who are found to have a spectrum disorder, the more interest will be shown by research facilities and the more likely it is that money will be made available for education, research and, possibly, for creating rehabilitation and advisory centres.
Until specific genetic markers are found, It is unlikely that there will ever be universal agreement on this matter, amongst the medical experts or amongst patients. It would seem however, that there is a ‘general’ consensus, between many experts, that HMS and EDS-H are at least part of the same spectrum and may be one and the same. Experts seem to have come to, what could be described as, an uneasy alliance; whether they are agreeing to disagree, not fully convinced, or they truly believe that the conditions are the same, they have come together to promote a message, that it is hoped, long term, will be in best interests for all - that the presentation of united front is more likely to provoke action, research and understanding than discord and separation, particularly when the management for both conditions is currently the same.
Maybe a united front is exactly what is required to continue the fight against, what has so far been, a long up hill battle for recognition, education and treatment for all those involved?
By edhs.info 2013