The medical approach from a patient's perspective
When patients have the multiple, seemingly unrelated, symptoms of hypermobile Ehlers-Danlos syndrome or hypermobility spectrum disorder they often find themselves having to go from one medical practitioner to another looking for answers.
When nobody can offer them an explanation for their pain, or help to relieve their symptoms, patients complain louder and longer in a desperate attempt to be understood – much as we are all tempted to shout when speaking to somebody who does not understand our language. It does not help, but we try it anyway (Anna Edwards-Fowler 2003) and doctors often dismiss them as neurotic. Patients describe how they enter a medical consultation already thinking that they will not be believed or understood. They also describe the disappointment of finally attending a long awaited consultation, having been referred by their GP to a local Orthopaedic or Rheumatology Consultant, only to find that the ‘expert’ knows less about their condition than they do themselves, or even worse, provides incorrect information or tells them the condition does not exist.
Aside from the recurring pain occurring as a natural result of the musculoskeletal/soft tissue trauma that many with hEDS experience (such as dislocation, subluxations, and connected soft tissue damage) and can cause acute pain and loss of joint function, a patient may complain of pain which, to the clinician, does not seem to be supported by the way they move or by comparable joint signs. hEDS/HSD joint pain often occurs with little or no inflammation. The level of pain described may well be equal to that which most clinicians would expect to hear from someone suffering from a condition such as rheumatoid arthritis but, when they carry out a clinical assessment, x-rays or MRI's, there is often nothing to be seen. In some cases this pain can, perhaps, be due to a sensitivity to pain (hyperalgesia), but in many it may be attributed to impaired connective tissue function (as suggested by the discovery of small fibre neuropathy in adults with the hypermobile, classical and vascular types of EDS). Microtrauma, now being recognised as a feature of hEDS, may also form part of the cause - where the injuries are too small for them to be noticed as they happen. Instead, over time, they may make one susceptible to recurrent or persistent pain, and possibly early joint degeneration like osteoarthritis.
Symptoms usually linked with anxiety, such as heart palpitation or feeling faint are misdiagnosed as panic attacks, with doctors failing to realise that the alteration of the biology of collagen in the body, in those with hEDS, can be responsible for causing the bowel and bladder to stretch and not empty properly, or that drops in blood pressure, caused by blood pooling in stretchy blood vessels, can trigger heart palpitations as the body tries to force blood back up to the heart. The cause is, instead, often seen as a psychological problem rather than a physiological one. In many cases, doctors dismiss a patient’s symptoms as signs of depression or stress, or increased vigilance, leaving the patient to feel like they are a hypochondriac. If the patient is 'fortunate', doctors may at least manage these conditions as if they occur due to independent causes - not necessarily a problem in itself if the symptoms are well treated - but this failure to recognise the symptoms as a pattern of systemic signs of hypermobile Ehlers-Danlos syndrome leads to a missed opportunity to provide a diagnosis that makes sense of the plethora of signs and symptoms with which the patient is affected.
'Known for decades as a hereditary condition with 'predominant rheumatologic (musculoskeletal) manifestations', [hEDS] is now emerging as a multi-systemic disorder with widespread manifestations. Nevertheless, the practitioners' awareness of this condition is generally poor and most patients await years or, perhaps, decades before reaching the correct diagnosis.'
(Quote: Marco Castori, Medical Genetics, Dept. of Molecular Medicine 2012)
Although things are slowly changing, at the moment, even when patients are 'lucky enough' to find a medical professional who seems to have knowledge of hEDS or HSD, they cannot expect, as you would with most other conditions, to find that their knowledge is up-to-date. Many specialists do not agree with each other, let alone offer one cohesive plan for treatment.
There cannot be many other disabling conditions that are treated in this way within the medical community.
'Nearly one‐half of the respondents were skeptical about a significant impact of the HMS [now known as HSD] on people's lives and three‐quarters [were skeptical] about a significant contribution to the overall burden of rheumatic disease.'
'There was little sign of awareness of findings in recent published studies. It seems unlikely, therefore, that evidence‐based medicine is being practiced in this area of rheumatology.'
(Ref: Findings from a study by Bird H. & Grahame R. 2001, see below)
The following are some of the disappointing, but not wholly unexpected, results from a national survey into British consultant rheumatologists' perceptions about the hypermobility syndrome:
'Three hundred and nineteen UK‐based consultant rheumatologists, members of the British Society for Rheumatology (a response rate of 76%), responded to a questionnaire concerning their perceptions of the hypermobility syndrome (HMS) [now called hypermobility spectrum disorder]. The questions were wide‐ranging and covered the nature of the condition, its clinic prevalence, criteria for diagnosis, the efficacy of chosen treatments, the impact of the syndrome on affected individuals and the contribution that it makes to the overall burden of rheumatic disease morbidity.
Ninety‐two per cent of the respondents believed in the HMS as a distinct clinical entity but only 39% accepted it as a distinct pathological entity...
...There was striking variability in estimated clinic prevalence and no consensus about the diagnostic criteria being used.
There was little enthusiasm for treatments currently available.
Nearly one‐half of the respondents were skeptical about a significant impact of the HMS on people's lives and three‐quarters about a significant contribution to the overall burden of rheumatic disease.
There was little sign of awareness of findings in recent published studies. It seems unlikely, therefore, that evidence‐based medicine is being practiced in this area of rheumatology.'
(Study submitted to The Oxford Journals, by Bird H. MA MD FRCP Emeritus Professor of Pharmacological Rheumatology, University of Leeds and Grahame R. CBE, MD, FRCP, FACP Emeritus Professor of Rheumatology, University College Hospital, London)
Specialists who truly understand, recognise that no two cases are likely to be the same and therefore the treatment approach needs to be tailored to the individual’s needs. In many cases, treatment should be adapted for, and integrated with, specialist medical therapies. Beyond the psychological relief of understanding their symptoms, with proper treatment many people with hEDS/HSD can gain significant relief from their physical symptoms too.
'When deciding on an appropriate treatment pathway, it is important that patients are assessed on an individual basis and that a tailored plan for referrals, treatments and management is put in place. For some who are diagnosed, referrals for cardiac tests, or in-patient rehabilitation may be the most appropriate initial course of action. For others, imaging or surgical procedures may be necessary. For the vast majority (in the UK), however, the appropriate treatment pathway can be successfully achieved through General Practitioner (GP) co-ordinated primary health care, combined with practical advice relating to long term self management...' 'Co-ordinated primary care for those with hEDS or HSD, will typically encompass management of the physical, fatigue and pain manifestations of the syndrome. A patient who has been provided with primary health care may also be referred to a secondary care healthcare professional or service, such as rheumatology, orthopaedics or other consultant-led services. Such referrals are usually reserved for more complex cases and/or diagnostic uncertainty. Appropriate referrals may also be made for related or comorbid symptoms such as postural orthostatic tachycardia, gastrointestinal disorders, stress incontinence etc., with services such as cardiology, gastroenterology and urology...' 'Once primary or secondary healthcare referrals and any resulting treatment pathway are completed, it is normal practice for patients to be discharged from the consultant / services list, back to the ongoing care of their GP. Usually, a letter of discharge is sent to the patient’s GP, outlining any recommendations for local referrals, such as occupational therapy, psychology support etc. The GP needs to make sure that effective support is provided and agree a plan of action where required...'
(Ref: © Understanding Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder by Claire Smith 2017 - page 133, Chapter 3 Management strategy and multi-disciplinary referral)
One Patient Appeals to her Doctor:
'My case is complicated, and I definitely don’t expect you to have all the answers. I realise that I am the sort of patient that can scare a doctor because you can never make me well again. But, if you are willing, I will do my very best to start our relationship with a clean slate, even though I’m scared. If you give me a chance, I promise I will give you one too. You might not be able to cure me, but together we can make me better than I am today – and I really need your help!'
(Quote: An Angel with Wings, www.chronicpainpartners.com)
For those seeking assessment for hEDS or HSD Ehlers-Danlos Support UK have produced a helpful How to Get Assessed if You Have Symptoms and/or show signs of hypermobile Ehlers-Danlos syndrome (hEDS) or Hypermobility Spectrum Disorder (HSD) flowchart, which can be viewed on their website by clicking here.
For references and information sources used within this site, please see the 'References' section of the main menu.
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