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Joint Hypermobility Syndrome: understanding its complex presentation


I would have failed a couple patients last year if I had not known to ask the right questions. Based on that learning, I want to take a moment to help you understand more about Joint Hypermobility Syndrome.


“Listening becomes effective only when what is said is also heard and understood”

-Bill Bouissonnault


Joint Hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome–Hypermobility type (EDS-HT) are two common heritable connective tissue disorders (HCTDs). For the sake of ease I will refer to these both as JHS in this article but they are often referenced together. Joint Hypermobility Syndrome has a strong genetic component and the hallmark of the disease is disordered formation of collagen and an altered ratio of collagen subtypes.


Hypermobility can occur in isolation, as an acquired trait due to trauma, joint disease and training (eg., gymnasts and dancers) but it can also occur on a more widespread scale and at multiple joints, as part of a JHS diagnosis.


Historically hypermobility has been the most common musculoskeletal feature associated with HCTDs. Many health practitioners consider it a benign trait and in some cases it is. Unfortunately this bias and a general lack of knowledge surrounding the complexity of connective tissue disorders has lead JHS to be underdiagnosed. (5)

There is a great deal of variability in the presentation by individuals but here is your guide to discovering whether this may be a factor for your patient or client.



WHO: Typical Population


· JHS is 3x more common in females than males

· More common in African, Asian and Middle Eastern races



HOW: How do you find out more?



Step 1. Start with some initial questions using the 5PQ

Answering yes to at least two questions above suggests JHS. I like the 5PQ because it considers the individual’s past abilities. Range of motion decreases can occur adapatively with age, as well as a result of injury or lack of use associated with JHS. (4)



Step 2. Then you want to find out if they do have areas of hypermobility


THE BEIGHTON SCALE


The Beighton scale is still the most commonly used screening tool for assessing JHS. It is composed of five maneuvers, four of which are done bilaterally, to calculate a potential score of nine. (1)



Remember NOT everyone that you see with JHS will present to you like Gumby


Step 3. Dig deeper with the Brighton Criteria

If you have a 2/5 on the 5 part Questionnaire and/or a 4/9 on the Beighton scale you will want to use the Brighton criteria.

THE BRIGHTON CRITERIA

The Brighton Criteria is now the standard diagnostic tool for identifying individuals with JHS. (2)


The Brighton Scale has been validated in individuals over the age of 16 and shown to be both very sensitive and specific. (2)



Step 4: Move on past the questionnaires and improve your observations skills :


“The world is full of obvious things which nobody by any chance ever observes.” Sherlock Holmes


Check the Skin! I will admit I’ve slacked on this as part of my evaluation in the past. The following skin features are a common sign of JHS.



An example of hyperelasticity with a skin stretch test



Step 5: Appreciate the fact that COLLAGEN is pretty much EVERYWHERE in our body.

Sometimes these individuals don't have pain or feelings of instability. Their main complaint might be urinary incontinence (as just one example). You won't not find this out unless you know to ask the right questions.

Collagen helix: holding you together


A patient with JHS can be thought of as an individual with a stressed system. This can manifest in many different ways.


Listed below are the main sub-systems we consider when thinking about the human body: Typically there are 11:

Patients suffering from JHS may present with complications in a few or all of these areas. Here are a few examples:


It is important to note that these manifestations seen in JHS are outputs of the interactions between these subsystems despite the single system categorization.


Here are some questions to ask when curious about systemic signs of JHS.

  • Do you bruise easily or have you noticed widened scars or stretch marks?

  • Do you feel tired all of the time (physical and/or mental fatigue)

  • Do you deal with any digestive issues (food intolerances, reflux, nausea, constipation)?

  • Do you notice that you often have a fast heart rate or dizziness that might cause you to pass out

  • Do you have any concern about bladder control or symptoms of pain while urinating?

  • Have you been dealing with any anxiety or depression?

  • Do you know of any family members that have dealt with similar issues?


My big takeaway from diving deeper into Joint Hypermobility Syndrome is appreciating the inconsistency in its clinical presentation. While there is a strong genetic component to JHS, we must consider that different environmental interactions and exposures partially explains the variability in phenotypes we see. Diagnosis and treatment of individuals with JHS is not simple. The two patients I mentioned at the beginning of this post were atypical, both being Caucasian males with symptoms not usually found in men.

Not all swans are white.


I hope the above information has provided you with some answers to understanding more about JHS. In turn I hope those answers lead to more questions; in which case you can find out more from the references listed below.



REFERENCES


Book:

1. J. Hakim, R. J. Keer, and R. Grahame, Hypermobility, Fibromyalgia and Chronic Pain, Churchill Livingstone, Else- vier, Edinburgh, UK, 2010.


Articles:

2. Grahame R, Bird HA, Child A et al. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS). J Rheumatol 2000 Jul;27(7):1777-9


3.Castori M, Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations. ISRN dermatology 2012, 751768, doi: 10.5402/2012/751768 (2012).


4.Hakim AJ, Grahame R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. Int J Clin Pract 2003; 57: 163–6


5. Castori M, Morlino S, Celleti C, Ghibellini G, Bruschini M, Grammatico P, Blundo C, Camerota F. 2013. Re-writing the natural history of Pain and Related Symptoms in the Joint Hypermobility Syndrome/Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet Part A 161A:2989-3004.


6. Colombi M, Dordoni C, Chiarelli N, Ritelli M, 2015. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/Ehlers-Danlos hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet Part C 169C:6-22.



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