Hypermobility

Hypermobility has had many names: Benign Joint Hypermobility Syndrome, Joint Hypermobility Syndrome, Ehlers-Danlos Syndrome Hypermobility type, Hypermobile EDS, Hypermobility Spectrum Disorders. Lots of terms that have sometimes been used interchangeably, some with more baggage than others.

Other websites cover the full history of Hypermobility and Ehlers-Danlos Syndrome (EDS), but few reference the actual medical literature. I don’t want to just cover all the same old ground as others, but this page is my interpretation of how we got to where we are now.

The Revised (Brighton 1998) Criteria for the Diagnosis of Benign Joint Hypermobility Syndrome (BJHS)

This article by leading clinician Rodney Grahame is often mentioned in most discussions of joint hypermobility and Ehlers-Danlos syndromes, and I see it as sort of “the beginning,” at least as far as joint hypermobility syndrome goes. As often as it is mentioned, however, finding it as a primary source was more difficult than you might imagine. You can read the article in full for yourself for free here: The Revised (Brighton 1998) Criteria for the Diagnosis of Benign Joint Hypermobility Syndrome (BJHS) on ResearchGate

The article begins, “Joint hypermobility first featured in the rheumatology literature as in an important clinical entity in 1967 when Kirk, Ansell, and Bywaters described the hypermobility syndrome (HMS)… the term “benign joint hypermobility syndrome” (BJHS) has largely replaced the earlier HMS.”

Grahame then discusses the close relationship between BJHS and the well-known Villefranche criteria created in 1997 to re-define the different EDS subtypes. He states “We believe this begs the question whether a true distinction can be made. From the clinical perspective there is compelling evidence that the hypermobility type of EDS (formerly EDS III) and the BJHS are one and the same. The “1998 Brighton criteria” presented below make the assumption that they are.”

So what exactly are these Brighton Criteria? The Special Interest Group on Heritable Connective Tissue settled on a set of major and minor criteria, which included the Beighton 9 Point Score as a measure of hypermobility as well other extraarticular features and symptoms.

Directly from the paper:

Table 3. Revised diagnostic criteria for the benign joint hypermobility syndrome (BJHS). The BJHS is diagnosed in the presence of 2 major criteria, or one major and 2 minor criteria, or 4 minor criteria. Two minor criteria will suffice where there is an unequivocally affected first-degree relative. BJHS is excluded by the presence of Marfan or Ehlers-Danlos [other than the EDS hypermobility type (formerly EDS III) as defined by the Ghent 1996 and Villefranche 1998 criteria, respectively]. Criteria Major and Minor 1 are mutually exclusive, as are Major 2 and Minor 2.

Major criteria

  1. A Beighton score of 4/9 or greater (either currently or historically)
  2. Arthralgia for longer than 3 months in 4 or more joints

Minor criteria

  1. A Beighton score of 1, 2, or 3/9 (0, 1, 2, or 3 if aged 50+)
  2. Arthralgia (≥3 mo) in 1-3 joints, or back pain (≥3 mo), spondylosis, spondylolysis/spondylolisthesis
  3. Dislocation/subluxation in more than one joint, or in one joint on more than one occasion.
  4. Soft tissue rheumatism ≥ 3 lesions (e.g. epicondylitis, tenosynovitis, bursitis).
  5. Marfanoid habitus (tall, slim, span/height ratio > 1.03, upper:lower segment ratio < 0.89, arachnodactyly [+ Steinberg/wrist signs].
  6. Abnormal skin striae, hyperextensibility, thin skin, papyraceous scarring.
  7. Eye signs: drooping eyelids or myopia or antimongoloid slant.
  8. Varicose veins or hernia or uterine/rectal prolapse.

Well, that’s quite a lot to unpack!! Let’s start with the Beighton score, also direct from the paper:

Table 1. Nine-Point Beighton hypermobility score

The ability to

  1. Passively dorsiflex the 5th metacarpophalangeal joint to ≥ 90°
  2. Oppose the thumb to the volar aspect of the ipsilateral forearm
  3. Hyperextend the elbow to ≥ 10°
  4. Hyperextend the knee to ≥ 10°
  5. Place hands flat on the floor without bending the knees

Maximum total: 9

One point may be gained for each side for maneuvers 1-4 [and one point for maneuver 5] so that the hypermobility score will have a maximum of 9 points if all are positive.

A little bit of medical lingo to unpack here as well. In plain English:

  1. With your hand resting, pull your pinky finger past 90°
  2. Touch your thumb to the wrist side of your forearm
  3. Bend your elbows out 10° past straight
  4. Bend your knees back 10° past straight
  5. While standing up with your knees straight, touch your palms to the floor

The Ehlers-Danlos Society has a page with good information, pictures, and a video if you want to assess yourself: Assessing Joint Hypermobility

Okay, now to break the rest of the criteria into plain English as well:

Finally, on the mutually exclusive criteria. This just means you can’t double dip, because the major and minor criteria are so similar. For example, if you count Major 2 (pain for more than 3 months in 4 or more joints), then you can’t also count spondylolisthesis as one of the two minor criteria for your diagnosis – you’d have to use another instead to meet the requirements.

An Update in 2008

Rodney Grahame wrote an opinion piece on hypermobility in 2008, and I think it’s worth including in a history of joint hypermobility, as it shows the beginning of a transition in the way people think about this “benign” condition. You can read the article in full for free here: Hypermobility: an important but often neglected area within rheumatology

He asks, “Why has fibromyalgia dominated the chronic pain scene for nearly two decades, when it has been established that chronic pain in Ehlers-Danlos syndrome (EDS: with or without tender points) is the most serious threat to the hypermobile patient’s quality of life?”

He also notes that, ” Hypermobility is still widely viewed by rheumatologists as a variant of normal… This view has been challenged by the notion that BJHS is itself a heritable connective tissue disorder (HCDT), albeit with generally less dramatic clinical manifestations than other HCDTs, such as the classical or vascular types of EDS… Many authorities in the field go further, and maintain that BJHS is indistinguishable from (if not actually identical to) the hypermobile type of EDS.”

He goes on to describe how the picture of BJHS was beginning to change:

“My personal opinion is that the Beighton scale is an imprecise instrument with which to recognize an HCDT. Taking into account – in addition to hypermobility – the other phenotypic features of HCDTs in, for instance, the skeleton (e.g. marfanoid habitus) and skin (e.g. hyperextensibility, poor scar formation or striae atrophicae), and looking at the supporting structures of the body for evidence of herniae (including the hiatus variety) and pelvic floor problems ( e.g. uterine or rectal prolapse, stress incontinence, etc.), the multisystemic nature of BJHS immediately becomes obvious.”

“One of the truly striking developments over the past decade or so has been the burgeoning evidence that BJHS has ramifications far beyond the musculoskeletal system.”

“The clinical picture of BJHS is becoming more complex as new knowledge is accumulated. The overlap of features between BJHS and other HCTDs, the associations of BJHS with fibromyalgia, chronic fatigue, dysautonomias, functional gastrointestinal disorders, loss of joint proprioceptive acuity, pelvic floor inadequacy, pain amplification, developmental coordination disorder (dyspraxia) and osteoporosis, and an apparent link between BJHS and certain types of anxiety and phobic disorders, all contribute to the multifaceted picture of BJHS.”

2009: Dropping the “Benign”

An important article came out in 2009, written again by Rodney Grahame, but with other leading specialists: Brad Tinkle, Howard Bird, Mark Lavalee, Howard Levy, and David Silence. You can read the article in full here: The Lack of Clinical Distinction Between the Hypermobility Type of Ehlers-Danlos Syndrome and the Joint Hypermobility Syndrome (a.k.a. Hypermobility Syndrome)

My favorite line is:

“The Brighton criteria also use musculoskeletal pain as a major criterion for diagnosis of BJHS; thus, the more current terminology for this “not so benign” condition is the joint hypermobility syndrome (JHS).”

In the article, they discuss the difference between just have joint hypermobility, which can be acquired and sometimes presents without any other issues, and having JHS, the syndrome, which by definition includes the other manifestations.

In the end they conclude:

“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 HCTDs 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.”

Now, it is important to note here that the authors aren’t saying that JHS/BJHS and EDS hypermobility type are exactly the same. Rather, hey are saying that given the current diagnostic criteria for both and the symptoms that the patients experience, the conditions simply can’t be reliably differentiated.

That is to say, if you had a patient presenting with various symptoms, while you could rule out other conditions, it would be too difficult to say one way or the other whether the patient had JHS or EDS hypermobility type. In most cases, you couldn’t say the patient has one but not the other. One doctor might say one thing while another says something else and they would never be able to prove definitively who was right.

So essentially they’re saying that in their opinion, the two diagnoses represent different descriptions (phenotypes) of the same underlying condition, and that the best way to get to the bottom of what causes the underlying condition, it’s best to treat JHS and EDS as the same condition, even though we don’t yet know what that underlying cause is.

2017: New Definitions and the EDS Reclassification

Let’s fast forward a bit from 2009 to now, 2017. The doctors and specialists have been working hard trying to figure out just what causes JHS/EDS-hypermobility type (EDS-H). Mostly they’ve been looking for an underlying genetic marker, similar to those found in the other EDS subtypes, but they haven’t found it yet.

But, it had been nearly 20 years since the Villefranche reclassification of EDS in 1997, and a lot of progress had been made, so the consensus was that it was time for EDS nosology update. The result was the publication of the 2017 EDS International Classification in the American Journal for Medical Genetics Part C: Seminars in Medical Genetics “Special Issue: The Ehlers-Danlos Syndromes: Reports from the International Consortium on the Ehlers-Danlos Syndromes.”

There were two main outcomes as far as the JHS/EDS-Hypermobility type relationship is concerned.

  1. They changed the diagnostic criteria for EDS-H and renamed it hypermobile EDS (hEDS). The new criteria are much stricter and define the condition much more narrowly, to the point where it can be distinguished clinically from the old JHS/BJHS diagnostic criteria.
  2. They developed a joint hypermobility spectrum which includes a range of Hypermobility Spectrum Disorders (HSDs) to re-characterize the vague, nebulous JHS and accurately label people who may have previously met the criteria for JHS/EDS-Hypermobility type but no longer fit the stricter hEDS.

Essentially, the hope and rationale is that by more narrowly defining hEDS it will be easier to find a molecular/genetic cause, which can then be used as a distinctive test to see if there really is a difference between hEDS and HSDs, or if they are just different expressions of the same underlying condition.

I would also hope that they will simultaneously be looking for a distinct molecular/genetic cause behind the HSDs, but due to limits of funding, for the time being at least, it looks like most of the research and energy will be funneled towards hEDS rather than HSDs.

I think the authors put their reasoning very succinctly in another article, A Framework for the Classification of Joint Hypermobility and Related Conditions,

“…a clear separation of the JH [joint hypermobility] secondary musculoskeletal manifestations from the primary pleiotropic manifestations of EDS may help in dissecting the intrafamilial and interindividual variability of EDS…”

This ends the history and brings us to where we are today, which I cover in the page “About Hypermobility Spectrum Disorders.”