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Why there is so much confusion within the medical community regarding Hypermobility Syndrome (HMS) / Ehlers-Danlos Syndrome Hypermobility-Type (EDS-H).
So many papers have now been published, by leading professionals in the field of Ehlers-Danlos Syndrome Hypermobility-Type (EDS-H)) and Joint Hypermobility Syndrome (JHS), explaining the conditions are multi-systemic, that it can be hard to understand why the medical world, so often, fail to pick up EDS-H / JHS as underlying causes for symptoms that are now known to be linked.
Unfortunately, medical professionals who are currently in practice, often rely on information given to them during their original training; this information was frequently incomplete and is now out-of-date. At best, some medical practioners may have a vague memory of being shown pictures of a patient with Ehlers-Danlos Syndrome who could stretch their skin out like elastic on either side of the neck (actually quite unusual in the more common forms of EDS, such as EDS-H), or who could bend themselves into contorted shapes. Many new junior doctors are still being taught this same information. Those who do know a little more about the condition often still believe that all types of Ehlers-Danlos Syndrome are extremely rare and think they are unlikely to see a case in their lifetime – they almost certainly do not realise that current findings show Ehlers-Danlos Syndrome Hypermobile-Type and Hypermobility Syndrome are far more common than first thought and that they are, at the very least, closely linked and may well be one and the same. Even when these conditions are mentioned within the media, only extreme cases are used as examples, reinforcing the belief that Ehlers-Danlos Hypermobility Syndrome is an 'extremely rare' condition, when, in fact, this is only the case with the vascular, kyphoscoliosis, Arthrochaslasis and Dermatosparaxis types of the condition, not the hypermobile form.
The criteria used for diagnosing EDS-H / JHS, called the Brighton and Beighton Criteria, is another area where mis-understanding arises. The need for criteria originally arose when experts recognised an association between hypermobility, acute joint and soft tissue injury and chronic pain. It included things like mild variants of skin changes, and eye symptoms. Research has developed further over the last decade and associations with, for example, bowel, autonomic cardiovascular, and pelvic floor problems have became clear. The last major overhaul of criteria, however, was in 1998 villfranche and these new findings, therefore, have not yet been incorporated into the formal criteria for EDS-H / JHS, leaving some doctors unaware of their existence. (To see details of the Brighton and Beighton Criteria go to 'Diagnosis by Clinical Evaluation' under the 'What is EDS-H / JHS' section of the main menu).
Names originally allocated, such as Joint Hypermobility Syndrome (JHS), or Benign Joint Hypermobility Syndrome (BJHS), have further increased misunderstanding within the medical community. The name ‘Joint’ Hypermobility Syndrome may give the impression that only the joints are affected, when, in a significant amount of cases, many other areas of the body that involve collagen/connective tissue are affected, including blood vessels and skin. The name ‘Benign’ Joint Hypermobility only serves to confuse people even further, implying that the condition causes no other problems. The word ‘Benign’ is, after all, most commonly used to explain that a lump, you thought might be serious is, in fact, nothing to worry about and needs no treatment. It is true that the affect of defective collagen on internal organs is usually persistent and debilitating rather than life threatening, but for most patients it does not seem an accurate description of a condition that causes this wide range of troublesome and, in some cases, disabling symptoms. Instead, patients often feel that it trivialises their condition in the mind of the medical practitioner.
The poor knowledge of the up-to-date research means it is most likely that the condition will be treated as a relatively trivial musculoskeletal disorder, which does not merit serious consideration. 'In the UK, rheumatologists' estimates of the number of cases seen annually, strongly suggest that the true diagnosis, in the majority of patients with JHS (a.k.a.HMS), is overlooked (by up to 95%). If these data are confirmed, the specialty of rheumatology worldwide will justly hang its corporate head in shame' (The Journal of Rheumatology - Prof. Rodney Grahame CBE, MD, FRCP, FACP University College Hospital London). Through tireless efforts by organisations such as The Hypermobility Syndromes Association, EDS Support UK and The Ehlers-Danlos National Foundation, their associated medical experts and their members, the message is slowly but surely beginning to get through to the medical world. It is hoped that funds can be raised for research and campaigns carried out to raise much needed awareness.
It is essential that GP’s and medical professionals at all levels, up-date themselves with current findings and knowledge about this condition and that they do NOT rely purely on information provided during their initial training, or second hand information passed to them by other members of the medical community, who may well be misinformed themselves. Indeed, much of the information listed on-line (even on websites that can usually be relied upon), is inaccurate , or incomplete, because the information provided still references the initial studies carried out at Hammersmith Hospital in 1968. It is also worth bearing in mind, particularly when seeing a child in A&E, that approximately 7% of children, who are reported to child protection for suspicious injuries (such as rib dislocations or spinal or skull fractures), actually have an underlying medical condition causing their injuries, for example, Osteogenesis Imperfecta or Ehlers-Danlos Syndrome (Wardinsky et al, 1995).
As long ago as 2004 Dr Alan Hakim MD and Prof. R Grahame CBE MD wrote to the medical community asking them to reconsider medical opinion and recognise EDS-H / JHS as a multi-systemic condition, as follows:
‘SIR, Joint hypermobility syndrome is a chronically disabling disorder manifested as
widespread pain, fatigue, multiple soft tissue lesions and fragility of skin and supportive
connective tissues. It is a condition that is often overlooked by clinicians.
Moreover, clinical experience suggests that previously unrecognized non-musculoskeletal
symptoms, including presyncope, palpitations and bowel disturbance, are also common in Joint Hypermobility Syndrome. Recent evidence demonstrates dysfunction of the autonomic nervous system as an explanation for these symptoms. Recognition of these symptoms by clinicians is an important part of patient assessment and education, even if the pathophysiology remains unclear.’
Dr. A Hakim MD FRCP and Prof. R Grahame CBE MD FRCP FACP
Ideally, GP’s and medical professionals should familiarise themselves with research carried out by eminent specialists in this field, such as Dr. Alan J Hakim, Prof. Howard Bird, Prof. Quasim Aziz, Prof. R. Graham CBE MD, Rosemary Keer, Dr. Roger Wolman, Dr. Helen Cohen, Brad Tinkle MD Ph.D, Dr. Alan G. Pocinki MD. In order to avoid fragmented treatment, GP’s should consider referring patients, whom they feel may have these conditions, to specialist centres such as The Royal National Hospital for Rheumatic Diseases in Bath; Royal National Orthopaedic Hospital in Stanmore; Great Ormond Street Rheumatology Dept. London, or, where possible, the brand new private Hypermobility Unit at the Hospital of St. John and St. Elizabeth London. Launched this year, specifically to offer a unified and cohesive approach to treatment and research, the new unit at the Hospital of St. John and Elizabeth is one of the only specialist multi-disciplinary hypermobility centres in europe and take referrals from all over the country.
The Hypermobility Syndromes Association (HMSA) has recently re-launched their website, giving patents and practitioners access to current and accurate information and resources relating to both Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobile-Type along with all types of hypermobility related syndromes, such as Marfans, Osteogenesis Imperfecta, Sticklers etc. Information and support is also available from Ehlers-Danlos National Foundation and EDS Support UK (for web links see 'Resources and Links' button on the main menu).
Publications available from the HMSA such as ‘A Guide to Living With Hypermobility Syndrome’ or ‘The Hypermobile Child, A Schools Guide’ offer invaluable information together with those listed at the end of this document.
How the Confusion Began.
The following explanation was given at the Hypermobility Syndromes Association Residential Conference by Prof. Rodney Grahame CBE MD FRCP FACP. The explanation has clearly been simplified for ease of presentation to a large audience, but the over all picture explains well why there is so much confusion within the medical community. The studies and their conclusions can still be read: 'The hypermobility syndrome: musculoskeletal complaints associated with generalized joint hypermobility. Kirk J A, Ansell B M, Bywaters E G L. Ann Rheum Dis 1967. 26419–425.425' and McKusick V A (1966) Heritable Disorders of Connective Tissue. McKusick V A (1966) Dr Beighton (1966).
In 1966 and 1967 two individual research programmes each carried out a study, into what were believed to be two entirely separate conditions – Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome Hypermobile Type EDS(H) (previously known as EDS Type III):
Study A: A study into HMS, carried out at the Hammersmith Hospital London by Rheumatologists named Kirt, Ansell and Bywaters.
Study B: A study into (H)EDS (then known as EDS Type III), was carried out at St Thomas’s Hospital London, by Geneticists, including Dr McKusick and Dr Beighton.
These studies were carried out only a few miles apart, but neither team discussed their research with the other.
The team studying Ehlers-Danlos Syndrome Hypermobile-Type (Team ‘B’) carried out their research from a geneticist’s perspective. They concluded from their studies that the condition was caused by a multi-systemic and symptomatic Heritable Connective Tissue Disorder (HCTD), most likely a collagen defect. Their findings were that the collagen fibres, which cover the whole body, are faulty in people with EDS-H, and that in addition to the muscles, ligaments, tendons, skin, all other areas affected by collagen can be involved, including internal organs, blood vessels etc.
They recognised that the defect in the collagen may cause many symptoms, including (but not limited to): instability of joints, dislocations, chronic fatigue, gastrointestinal problems, gynecological and cardiovascular issues, skin problems and autonomic dysfunction (dysautonomia).
This ‘genetic’ theory allowed for the possibility of many of the secondary symptoms, from which many people with EDS-H / JHS suffer, e.g. Supraventricular Tachycardia, Postural Orthostatic Tachycardia, stretchy skin, stretchy blood vessels, eyesight problems, fibromyalgia, gastrointestinal tract problems, migraines, excess adrenaline production, sleep and fatigue problems, dental problems and genitourinary issues such as increased risk of uterine prolapse.
At roughly the same time, Team ‘A’, who were carrying out studies into Joint Hypermobility Syndrome, were initially asked to consider a similar theory i.e. they were asked to consider the possibility that Joint Hypermobility Syndrome was part of a spectrum of connective tissue disorders. This Team were looking at the research from a rheumatological, rather than a genetic perspective and they threw out this idea and decided to concentrate purely on ‘the joints”. From what we understand these rheumatologists did not take into account that collagen affects ‘all’ of the connective tissues in the body, including internal organs, blood vessels, the skin as well as the ligaments, muscles and tendons. They failed to recognise at the time, that Hypermobility Syndrome is also a Heritable Disorder of the Connective Tissue (HDCT), in which any collagen related area of the body can be affected.
In 1968 Team ‘A’ (studying Joint Hypermobility Syndrome) published their findings, all but eclipsing the genetic research carried out by Team ‘B’ (studying Ehlers Danlos Hypermobile-Type). Team A’s paper defined the condition as a ‘Musculoskeletal condition affecting the joints’. They went on to state that – “other than having problems with their joints, these people were in all other ways completely normal”.
This idea was effectively ‘set in stone’ in 1968 and has been handed down through the medical profession ever since. In fact, despite efforts by experts in the field to re-educate the medical world, using the knowledge and understanding they now have, this incomplete and inaccurate theory is still taught to students doctors to this day. It is little wonder, therefore, that medical professionals, from GP’s to Doctors, Physiotherapists and Consultants are often so poorly informed about the condition.
Gradually however, as incontrovertibly convincing evidence has appeared, it has become clear that Joint Hypermobility Syndrome and Ehlers-Danlos Syndrome Hypermobile-Type are either truly identical, or, if not identical, at least (at this time) indistinguishable from one another. The two conditions are now thought to form part of the same spectrum, ranging from those with Joint Hypermobility Syndrome who are often more moderately affected, through to those who are severely affected, many of whom truly have the hypermobility type of Ehlers-Danlos Syndrome.
Both JHS and EDS-H are now recognised as multi-systemic (affecting more than one system or organ in the body) and multi-symptomatic (causing more than one symptom in the body). Clinicians, however, appear frequently unaware of the recent literature concerning systemic complications, so patients’ symptoms and complaints are often discounted. They are, therefore, often left to “shop around” in vain, searching for a doctor who believes their symptoms and who attempts to alleviate them.
‘If we understand why a large proportion of the medical world misunderstand this condition, does it help to ease our frustration a little?
If we can get this explanation out to existing GPs and to those who teach student doctors, maybe there would no longer be a reason to be frustrated.