The Ehlers-Danlos Syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders (HCTDs) characterised by joint hypermobility, skin hyperextensibility, and tissue fragility (Malfait et al. 2017).
At this point, the genetic cause for Hypermobile Ehlers-Danlos remains elusive. For that reason, among others, the criteria for diagnosing Hypermobile Ehlers-Danlos Syndrome were made more specific in 2017. The International Consortium on the Ehlers-Danlos Syndromes released a new nosology for all types of EDS, recognising 13 subtypes of EDS (where previously we had been working with 6 types).
During this process, the name for each type was modified slightly. EDS Hypermobility Type (which used to be known as EDS III, before it became EDS Hypermobility Type) has become Hypermobile EDS and shorted to hEDS.
A “clinical spectrum” of hypermobility has now also been identified and documented, and this ranges from Asymptomatic Joint Hypermobility through Generalised Hypermobility Spectrum Disorder, to Hypermobile EDS. See our page on “Hypermobility Spectrum Disorders” for more information.
Specifically for the purpose of diagnosing hEDS, the following cut-offs are recommended on the Beighton Score to ascertain whether someone has generalised joint hypermobility (GJH):
≥6 for pre-pubertal children and adolescents
≥5 for pubertal men and women up to the age of 50
≥4 for those >50 years of age
There is recognition that people with acquired joint limitations e.g. from surgery, wheelchair use, amputation etc. may not score accurately on the Beighton Scale. If the individual is 1 point under the cut-off for their age/life stage, The Five-Point Questionnaire below can be used to help diagnose GJH.
Diagnosis of Hypermobile EDS (hEDS)
A diagnosis of hEDS should be assigned only in those who meet ALL of the criteria below. It’s important to be strict with assessment of criterion in order to help reduce heterogeneity within the diagnostic category, and to help future efforts to discover underlying genetic causes for the condition (Malfait et al. 2017).
A diagnosis of hEDS requires the patients’ symptoms meet Criteria 1 AND Criteria 2 AND Criteria 3.
A number of other symptoms & syndromes have been found to be associated with hEDS. While these are not included in the diagnostic criteria, the presence of co-morbidities is not uncommon.
These can include:
• Sleep disturbance
• Postural Orthostatic Tachycardia Syndrome
• Functional Gastrointestinal disorders
What does the change in diagnostic criteria mean for the person living with a hypermobility condition?
Theoretically, the change in the criteria has affected some patients to the point that they no longer meet the criteria for Hypermobile EDS. This has been concerning for a lot of people with hypermobility conditions, and understandably so. They have just had the diagnosis they have been working with for X number of years “taken away from them”, if you will. While the Ehlers-Danlos Society has tried to placate concerned patients by saying their diagnosis won’t be “taken away from them”, in the grand scheme of things, we believe this goes against the whole objective of narrowing down the diagnostic criteria in the first place.
The Consortium has declared that we need to reduce the heterogeneity within the hEDS diagnostic category, and that can only happen if those who are already diagnosed, as well as those diagnosed in the future, are in fact given the correct diagnosis. The Ehlers-Danlos Society (2017) have since stated: “If someone was diagnosed with hEDS before the 2017 criteria, there’s no cause to seek a new diagnosis unless they decide to participate in new research or need to be reassessed for some other reason”. So essentially, if you're going to participate in research, then you will need to be reassessed before entering any research project. That is at least reassuring that any research done will be done so on the correct population groups.
Typically, those who don’t meet the criteria for hEDS anymore, meet the criteria for one of the Hypermobility Spectrum Disorder subtypes, but this also needs to be assessed. Also bear in the mind that there is the possibility that some people who have been in the hEDS category for some time, may in the future have their diagnosis changed to something new, if the genetic studies & genome sequencing that can now take place, discovers an entirely new category. As I said in my talk at the opening of Genetic Awareness Week 2016 - we live in an exciting time; we are in an era when the genetic cause of our conditions may soon become know. And, that is what we have to hold onto: Hope.
Our approach at Hypermobility Connect is to try to encourage people to see a change of diagnosis in an alternate way. This change in criteria means that people have now received a far more accurate diagnosis. They are still living with a disorder that sits on the Hypermobility Spectrum, which can be just as disabling, painful, and frustrating, it’s just no longer considered to be Hypermobile EDS at this point in time.
In a lot of ways, this change in diagnosis means nothing other than a label change. The management of hEDS and G-HSD is essentially the same. Management is largely symptom and prevention-focused in both conditions.
What we need to be aware of is the idea of “downgrading” which seems prevalent in the EDS/Hypermobility Community. There is a belief that hEDS is “worse” than HSD. And because patients have often struggled to have their condition recognised and their pain validated, many (not all!) have a tendency to want the diagnosis that “sounds the worst” and therefore attracts more empathy & sympathy from others, es[ecially medically professionals. They feel that after years of being ignored, a label like Ehlers-Danlos Syndrome may actually get them the help they need. This is where education has to come in to play, for both professionals & patients. A correct diagnosis is always better than the most severe sounding, but we have a long way to go in helping people to see it this way. It’s a big change. We know that Hypermobility Connect needs to play a part in educating health professionals so that they recognise both hEDS and Hypermobility Spectrum Disorders for what they are - often disabling, painful and often fatigue-causing conditions. We know that the Quality of Life of people with rare conditions like the Ehlers-Danlos Syndromes is much higher than the general population, and even those with more commonly identified conditions like heart disease, diabetes & arthritis (Oregon State University, 2017)
We know that Hypermobility Connect needs to play a part in educating health professionals so that they recognise both hEDS and Hypermobility Spectrum Disorders for what they are - often disabling, painful and fatigue-causing conditions. We know that the Quality of Life of people with rare conditions like the Ehlers-Danlos Syndromes is much higher than the general population, and even those with more commonly identified conditions like heart disease, diabetes & arthritis (Oregon State University, 2017). We believe with education of both professionals and patients we can help to increase the QoL of people living with hypermobility conditions of all kinds. Just as hypermobility doesn't discriminate, nor do - we aim to educate professionals and patients about all the hypermobility-causing conditions, including Loeys-Dietz Syndrome, Marfan Syndrome, Osteogenesis Imperfecta and the other even less known conditions.
What it looks like
Hypermobile EDS is a pervasive condition. The criterion in the diagnostic nosology above cover the following body areas or systems:
Patients with hEDS present in a myriad of ways. There is so much diversity within the hEDS diagnostic criteria, which means that no two people living with Hypermobile EDS will present the same way.
The most common reason for someone to present for diagnosis in this hEDS sub-type of Ehlers-Danlos Syndrome is joint hypermobility, joint instability and chronic pain. They also often experience debilitating fatigue.
A person living with significant joint hypermobility, pain and fatigue will often be struggling with their life roles (e.g. parenting, working, schooling) as well as many of the tasks within these roles (e.g. cooking, cleaning, studying, driving, looking after children). Some will have made helpful adaptations (e.g. found ways around difficult tasks), others will have found unhealthy ones (e.g. avoiding leaving the house), while others may not have made any changes at all.
If the person has been experiencing symptoms for some time, they will often present using aids, braces, splints and may or may not be taking considerable doses of pain medication. Most of these things are necessary in the life of person severely affected by hEDS, especially when they haven’t been managed well (or at all).
More often than not, they will not have had access to specialist services for hEDS. There are no adult genetic specialists services in Australia for the Ehlers-Danlos Syndromes. There is a scattering of private practice health professionals who are knowledgeable enough to be able to work with patients with these conditions. Typically, what they have learned in this area of practice is from treating patients with hypermobility, through trial and error.
At this time, the database that we have of these practitioners is not available to the public. However, names of practitioners can be provided on request, if any are located in the patient’s area and have agreed for their details to be shared.
The serious lack of resources is why we desperately need to educate medical & health professionals about Hypermobile EDS and the Hypermobility Spectrum Disorders. Specifically, how to diagnose (for medical practitioners) and how to help someone living with hypermobility to learn to manage their condition (allied health). At the moment, patients are generally learning how to do this from each other, within patient forums and Facebook groups, which means their management plans are not tailored to their individual needs, and more often than not are not appropriate for the individual. Patients are not getting the best healthcare possible because of lack of health professional education in the area of hypermobility conditions.
Information compiled by
Michelle O’Sullivan BAppSc(OT) Grad Cert Loss, Grief & Trauma Counselling
Hypermobile Ehlers-Danlos syndrome (hEDS) vs. Hypermobility Spectrum Disorders (HSD): What’s the Difference? Downloaded 14/12/2017 : https://ehlers-danlos.com/wp-content/uploads/hEDSvHSD.pdf
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. 2017. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:8–26.