#generalised joint hypermobility

[obfuscated-abstract]

Title: Association of hypermobility and ingrown nails

Date: June 2012 Published in: Clinical Rheumatology Publicly available: It is now.

Citation: Erdogan, F.G., Tufan, A., Guven, M. et al. Association of hypermobility and ingrown nails. Clin Rheumatol 31, 1319–1322 (2012). https://doi.org/10.1007/s10067-012-2014-4

Full text

Abbreviations:

GJH: generalised joint hypermobility

JHS: joint hypermobility syndrome (now known as hypermobility spectrum disorder or HSD)

Article Summary

Abstract

Introduction

Ingrown nail (onychocryptosis) is a common condition. Risk factors are well-defined and include ill-fitting shoes, faulty nail trimming, hyperhidrosis, poor foot hygiene, and genetics. Repeated trauma has been proposed as a cause. Ingrown nails are most commonly found on the first toes where the joints bear the most pressure.

Joint hypermobility has been shown to modify an individual's gait includings an increase in pressure in the medial midfoot region. Orthopedic foot problems like pes planus are common in hypermobility patients.

Generalised joint hypermobility (GJH) is a major component of joint hypermobility syndrome (JHS) which has other features that may make individuals more proned to ingrown nails such as fragile and thin skin, autonomic and proprioceptive sensory neuronal dysfunction (resulting in hyperhidrosis and vulnerability to recurrent trauma).

The Beighton criteria has been used for the assessment of GJH but has been criticised for only including certain joints and lacking consideration for associated symptoms or conditions.

This study aims to investigate the association between hypermobility and ingrown nails and the hypothesis that local hypermobility might play a role in its occurence.

Materials and methods

Details the criteria for inclusion and exclusion of patients in the study and the control group. Assessments were made using the Beighton criteria and measurements of local hypermobility.

Discussion

Ingrown nails is a common condition with peak occurences at two distinct age ranges suggesting differing causes

Several predisposing factors have been identified including a positive family history. Joint hypermobility has similarly been shown to be familial

Ingrown toe nails are more common in patients with GJH and are associated with more limited mobility of the first toe. This is counterintuitive but GJH predisposes individuals to repeated trauma, a risk factor for ingrown nails.

Hallux limitus/rigidus has been associated with first toe hypermobility. Pregnancy and obesity are also risk factors for hallux limitus/rigidus. Ingrown nail formation is also common in dancers and other sports people.

GJH is a fundamental part of JHS but JHS has other characteristics that could not be assessed in this study but could contribute to ingrown nail formation

Joint hypermobility is more common in children and less so in the elderly as a result of related complications so patients over 50 were not included in this study but could be included in further studies to strengthen this study's position.

Further studies are needed to demonstrate the association between GJH and ingrown nails but, despite complicating factors, this study shows that there may be an association.

[speakercrab666]

*wipes “i’m like really flexible ;)” off chalkboard and writes “i have hypermobility :/” in it’s place”

[weirdstrangeandawful]

Okay look. I really really love how much attention hEDS is getting because it is really hard for rare diseases to get treatment and diagnosis and hEDS is definitely underdiagnosed (still rare but also underdiagnosed). I also disagree strongly with the EDS society's gatekeeping of hEDS. Especially when their goal is to identify the genetic marker which means you need to rule more people in not out!!! If you end up with an extra group of people that's fine! I'm already convinced that hEDS is more than one subtype that have been erroneously combined.

But I will say that I've been finding a lot of people with joint hypermobility, and even generalised joint hypermobility, self-diagnosing makes it difficult to get treatment and diagnosis because the tone among doctors is shifting from 'devastating incurable illness that reduces quality of life to near zero and requires management as soon as possible' to 'just hypermobility'.

Yes, hypermobility is a pain. But I could deal with it.

I can't deal with (in no particular order) not being able to eat or drink, nausea, fainting, low blood volume, seizures, partial paralysis and ataxia, paresthesias, akathisia, extremely delayed wound healing and therefore infections, bruising from the lightest bump or blood draws, stretch marks, dermatographia, and other things that affect body image, thousands of dollars in dental work, constant cavities, ingrown nails, accessory toenails, extremely tight hamstrings (part of the reason I'm not diagnosed yet because they compensate for my lumbar spine), finger and thumb hyperextension, greatly reduced grip strength, dystonia, dislocations of both joints and tendons, trachea hypermobility causing me to stop breathing, severe TMJ issues, flat feet that have required mobility aids since I was 4 and continue to get worse, fragile and slightly hyperextensible skin, urinary retention, bladder and pelvic pain (including contraction-like symptoms without a uterus), severe headaches, tunnel vision, visual snow, tinnitus, insomnia, hypersomnia, joint pain, musculoskeletal pain, myofacial pain, nerve pain, nerve damage, extreme fatigue, hearing issues, vision issues, tremors, nutrient deficiencies, medication intolerances, and so many more symptoms and comorbidities.

And yes, I recognise that it's not the patients' faults. They should absolutely be able to bring up concerns of hEDS without it negatively influencing other patients. But doctors suck a lot of the time.

[radley-writes]

Hello there I hope you are well. I might have EDS but also think it might all be my head. I want to try and seek a diagnosis but I want to be sure first. Do you have any advice? Thank you and please no pressure to answer if it is a stressful question.

First off: I have so much empathy. You're exactly where I was at this time last year - aka, in my 'constantly annoying family/friends by asking "Hey is this thing I've been doing my entire life abnormal, actually?"' phase.

By this point, I have been professionally diagnosed. I also have a close friend who thought she had EDS but wound up being diagnosed with HSD, which affects fewer parts of your body. She has received pretty much the same amount of help that I have - so even if it turns out that you don't have EDS, there's still a good chance of accessing care!

...I also, sadly, know multiple people who have been treated abysmally while seeking a diagnosis and have received no help whatsoever. So much depends on which health professionals you speak to.

Whether or not you receive a diagnosis at the end of the day, remember that your struggles are real and are valid, and that you deserve support. I truly hope that you find it, and my inbox is always open should you wish to chat. x

Second off: check out this link for the official diagnostic checklist.

[more under cut...]

Remember to think carefully about skin & internal organ issues, as well as just the Beighton criteria.

I hit a 9 on the Beighton scale when I was diagnosed (full marks, yay!) even though most days I'm a 7. However, a surprising amount of people - I think as much as 25%? - meet the official criteria for 'generalised joint hypermobility'. It's really not that uncommon, and in the vast vast vast amount of cases, it's either unsymptomatic or only causes minor problems with sprains and pain.

However, most people do not regularly dislocate or subluxate joints (This can look different to what you expect! I only recently realised that 'numerous joints get stuck at painful and unnatural-looking angles, so I have to very gently manouevere them until the bone clunks back into place' is actually not an experience everyone has, lol.)

Most people do not have recurring hernias or prolapses.

Most people do not have difficulty walking or climbing stairs because of recurrant sprains and dislocations of the ankles/knees/hips.

Most people do not struggle to swallow, randomly spurt solid food out of their nose, or have frequent accidental vomiting episodes.

Most people do not have all of the following: hyperextensible skin that bruises like a peach, and arms that are significantly longer than they are tall, and arachnodactyly, and fat that herniates through the skin of their heels, and a high arched palette, and a ridiculous amount of stretchmarks that have been there since pre-puberty.

Most people do not regularly faint for no obvious reason.

Most people are not in constant pain.

I have all of the above signs for EDS. It took me years to recognise that these were all connected to a single disorder, and weren't just 'in my head'. So I'm not going to give you some bullshit about 'well, if you had EDS, you would know about it'.

I would encourage you to go to the doctor and pursue a diagnosis if all of this is sounding in any way familiar - or even if not, but you'd still like the assurance! There is no shame in wanting to just talk your experiences over with a health professional and see what they think. And I truly hope that they listen.

Best of luck on your journey, nonnie.

[spiderinthecupboard]

My doctor told me today that he considers my ASD and EDS+POTS combo to be a single package of issues possibly caused by the same genes so I'm wondering how prevalent hypermobility is in autistic people.

[kelcipher]

The Relationship Between Generalised Joint Hypermobility and Autism Spectrum Disorder in Adults: A Large, Cross-Sectional, Case Control Comparison - PMC

[enhancephysiotherapy]

Physiotherapy for Hypermobility

Do you have joints that move beyond their normal range of motion? Do you often experience pain and discomfort in your joints? If yes, you may be suffering from hypermobility.

Hypermobility is when the joints move beyond their normal range of motion due to loose ligaments and tendons. This condition affects many people and can cause various health problems, such as chronic pain, joint instability and even dislocations.

Fortunately, physiotherapy can help manage the symptoms and improve the quality of life for individuals with hypermobility.

Physiotherapy is a non-invasive treatment that focuses on restoring the body’s normal function. It involves exercises, stretches, and other techniques that help strengthen the muscles and improve joint stability. If you have hypermobility, physiotherapy can be an effective treatment option to alleviate pain and improve your overall mobility.

What is hypermobility?

Our joint range of motion is variable within the population. When we describe hypermobility (which is known as more movement than “normal”) of a joint, this is measured against what we know is average for a person’s age and gender, shown on a bell curve. Some people have a “normal” range, significantly more than the population average. This movement is seen to be “hypermobile” compared to the average population. It can be quite “normal” for that person as many variables can contribute to joint mobility.

A comparison of joint mobility is our height. We have average heights that are “normal” for gender and age; however, those that fall above or below those averages are not usually seen as “problematic”.

Hypermobile joints are highly prevalent in the population. Some of these are related to conditions/syndromes that cause other problems. Having a hypermobile joint or even multiple joints does NOT always mean you have one of these conditions/syndromes however having them is characteristic of people with the conditions/syndromes.

Hypermobility can occur on its own or as a symptom of a variety of conditions, including:

Ehlers-Danlos syndrome

Rheumatoid arthritis

Down syndrome

Benign joint hypermobility syndrome

Marfan syndrome

Common symptoms of hypermobility

Hypermobility can be asymptomatic and cause no problems or concerns, but it can also cause a variety of symptoms, including:

Early fatigue, such as a sore writing hand.

Joint sprains that reoccur.

Scoliosis.

Subluxations and dislocations caused by joint laxity and instability.

Early-onset arthritis caused by joint cartilage damage.

Clicking and locking joints.

Bursitis, frequent tendon pain

Joint discomfort

Physiotherapy assessment and diagnosis for hypermobility

Your physiotherapist will assess you using a combination of tests and will most likely include the most commonly reported measurement tool called the Beighton Score, which is a numerical score from 0-9 to access for joint hypermobility with 1 point given to each positive test, this is then reported against your age & gender.

These tests are used to assist in differentiating between those with and without Generalised Joint Hypermobility (GJH). If you have concerns about hypermobility in your joints, it’s best to book in with your Physiotherapist to be reviewed and determine the requirements of an appropriate treatment plan.

Benefits of Physiotherapy for Hypermobility

Manual therapy and soft tissue massage are two methods for pain management.

Our exercise programs are personalised to your needs and can be done independently. They are customised to address your specific condition to guarantee safety and optimal results.

Proprioception exercises: Proprioception is the ability of your brain to detect the location of your joints at any particular time. Individuals with Joint Hypermobility Syndrome improved significantly in proprioception after an 8-week closed kinetic chain training program, improving pain and quality of life.

Stretching exercises can be beneficial in managing hypermobility; they help to increase flexibility and reduce the risk of injury. Regularly stretching areas such as the hips, legs, back, and shoulders can improve joint stability and strengthen the muscles that support them.

Dynamic control exercises to train optimal movement patterns, especially at the shoulder and lower back/hip.

Strengthening exercises help to strengthen the muscles and increase muscle tone, which helps with joint stability.

Hydrotherapy can be an effective means of providing therapy for hypermobile patients. Water’s buoyancy aids in relieving compression in sore joints.

You will receive personalised advice and education based on your needs and goals. This may involve suggestions for adjusting your physical activities, strategies for resuming sports or work, and alternatives for managing pain.

Final Thoughts on Physiotherapy for Hypermobility

Physiotherapy can’t cure hypermobility, but it can effectively manage its symptoms and lead to a better quality of life in the long run.

If you or someone you know is struggling with hypermobility, don’t hesitate to give physiotherapy a try. With the right treatment plan, you can gain strength, reduce pain, and improve your overall quality of life.

Remember: you don’t have to live with the limitations of hypermobility forever. Seek out help and take control of your health today!

Book an appointment with one of our highly qualified physiotherapists at Enhance Physio before starting a rehabilitation program. We can advise you on the best course of action for your condition.

<p>The post Physiotherapy for Hypermobility first appeared on Enhance Physiotherapy.</p>

Originally published here: https://enhance.physio/hypermobility/

[drogba-prospect]

Frontiers | The Relationship Between Generalised Joint Hypermobility and Autism Spectrum Disorder in Adults: A Large, Cross-Sectional, Case Control Comparison

Greetings Xi Jinping Lee Hsien Loong Joe Tsai,

Inherent flexibility makes it relatively easy for hypermobile people to perform certain physical activities. According to McCormack et al. (37), JH may be an advantage for gymnasts and for cricket spin bowlers. It also facilitates the performance of acrobatics, contortionism, yoga (20), and diving (7). I have Hyper Mobility I experience the benefits as a kinesthetic learner. Research should be done. In the article there is a list of impairments that I do not encounter while playing sports. Autism with ACTN3 Gene is the reason I don't experience poor athletic ability I believe. My best pitch in Baseball was the Curveball.

Regards,

Adrian Blake-Trotman

[thebibliosphere]

Hi, I have POTS and generalised joint hypermobility disorder (very similar to EDS). I'm trying to decide whether to get vaccinated. My country has very little covid, so I can afford not to. Which vaccine did you get and how did it effect your POTS and EDS? How are you now?

Hey! Thanks for reaching out and asking.

The vaccine I got was Pfizer, and my reactions have been very mild and manageable.

hEDS: I was slightly more bendy than usual/had inflamed joint pain for about 48 hours. I was advised to rest by my physician and not engage in strenuous physical activity to avoid possible injury. Pain killers, rest, and heat packs were useful. Four days on, I was back to normal.

MCAS (I know you didn't ask, but it might help someone): zero reactions. In fact, my mast cell instability appears to have gotten better as I am no longer experiencing chronic urticaria. It's been a week and I haven't had a single hive for the first time in five years.

For my MCAS, I premedicated an hour before with an h1 antihistamine and had rescue meds on hand (Benadryl, prednisone, epi-pen). Didn't need any of them and was back down to my normal medications within 48 hours.

POTS: my POTS was a lot more reactive than usual, which was made worse by the sudden onset of my menstrual cycle and a migraine. I was dizzy/very tachy for about 48 hours and had to increase my fluids and electrolyte intake while laying down a lot, but required no further intervention. One week on, I am back to my baseline with no further symptoms. Advice for POTS patients is to make sure they're really well hydrated with electrolytes before and after and are prepared to rest.

For what it's worth when I got Covid in 2020, my POTS was uncontrollable for about 9 months and I could barely sit up at my desk to work without experiencing distress/risking syncope. The vaccine reaction was very mild in comparison.

I hope that helps and that you will consider getting the vaccine. Even if Covid is under control where you are, with surging numbers and rising variants around the world, it's a good idea to take protective measures where possible. Stay safe!

[sanriosratz]

Ciero is fucked up. That’s it. That’s the whole post. (/hj)

@eldritch-hall-asylum i’m not back on my Ciero-spam bullshit, just clearing things up when it comes to Ciero’s dxs

—

TW for trauma, and mention of abuse, drug [use mention] (marry an iguana), ASK TO TW

under the cut for length!

Ciero is fucked up. That's it.

Autism Spectrum Disorder (Autism/ASD)

Diagnosed in their early twenties? They'd shown symptoms their entire life (obviously lmfao.) that went ignored (because of Richard's ableism or just not seeing a problem? It's unknown). Special interests include Back to The Future, Lord of The Flies, Beagles, and Chickens/birds. (I also personally headcanon that they have a SpIn in flowers and bees).

Complex-Post Traumatic Stress Disorder (C-PTSD)

Don't know when he was diagnosed with this; maybe in his breakdown arc? I think it went 'ignored' for years (ignored, as in Ciero didn't want to deal with it). Formed from extreme trauma from childhood to adulthood.

Complex/Chronic Regional Pain Syndrome (CRPS)

Developed due to being shot and bitten by an attack dog on the leg. Diagnosed a while after the hospitalisation from the wounds suffered (generalised age 29–30). I doubt that she'd take countless meds to control her pain. Instead, she may have Lumbar Sympathetic Blocks or a Spinal Cord Stimulator (SCS), which can reduce symptoms in her leg. She may have PRN medication (MMJ?*) that she'll use during bad flares. I'm also assuming that her whole leg is affected; it may have first developed in her lower leg and then spread up, stopping at her hip.

*I’m just putting this down to note; that Ciero might vape marry-an-iguana when flares occur (smoking/vaping causes the 'high' to come quicker than edibles). She might use edibles for PTSD to calm down and relax?

Hypermobile Ehlers-Danlos Syndrome (hEDS) *PENDING*

Diagnosed a little while after their trip to NYC (after everything with Alice). Dealt with symptoms their entire life, most commonly dislocations and joint pain. This could just be me being me, but I think that Ciero's hEDS to some degree would be moderate–severe. They'd get 9/9 on the Beighton score (hypermobility test) and have quite weak joints; especially their hips. They'd have general issues with their knees, shoulders, and wrists.

Ferris Dorothy Windroe

Ferris is multipurpose. Mainly psychiatry to help Ciero manage her triggers and responses to triggers. He can guide her away from environments where she is triggered or help ground her within the environment. He can also perform mobility tasks (such as for her hEDS and CRPS). He can disrupt self-harming behaviours such as skin picking, scratching, etc. as well as interrupt flashbacks, panic/anxiety attacks, and dissociative episodes. He can also get them down to the floor if need be). He can retrieve items (such as items Ciero has dropped, Ciero's meds, his leash, etc.). He can do crowd control (circle handler to create space when needed; mild agoraphobia with Ciero).

[thatwheelchairchick]

Lexi Adams’ Medical History

I’m 3 chapters into posting this, and I’ve only just written an explanation to most of Lexi’s issues in chapter 25, so there’s a long way to go until then. I thought I’d share a detailed physical medical history for those that want to know, especially as this contains more details than the story version does - she talks about the current issues, but she doesn’t really explain the background other than what she sees as necessary. She does also have mental health issues, but that can wait.  

Before I get started, this medical history is my own until I was 17. They did a test that gave me permanent headaches and doesn't allow me out of bed very often, but this is accurate until about 4 months after I turned 17. This will not be everyone's story, but since I have lived this specific medical story, I do know what I am talking about and I felt that if I was going to do this, I’d only use conditions that I had personal experience with, at least this time around. 

Diagnoses: Cerebral Palsy (CP), Joint Hypermobility Syndrome (JHS), generalised chronic pain, and Functional Neurological Disorder (FND).

Cerebral Palsy is brain damage caused in the womb, at birth or in the first three years of life. There is no typical presentation, and there are many types. In Lexi's case, her CP is mild weakness and pain in her right hand and leg, also known as right sided hemiplegia, but she could walk without aids.

Joint Hypermobility Syndrome is when you have very flexible joints and it causes you pain – this is also known as being double jointed. Lexi's is severe in her fingers and wrists, but she does have it all over.

Unfortunately for Lexi, her CP and JHS conflict each other, which means the pain caused by both conditions is worse than if she'd had one or the other. This has caused generalised chronic pain for as long as she can remember.

At 13, she started using crutches in the winters to help with her legs since the right would sometimes be so severe that it just wouldn't support her weight, and at 16, her right leg went completely numb and would no longer support her weight properly. This is called FND, and it is essentially the brain saying 'fuck off, I'm done feeling this amount of pain.' Because there is technically nothing wrong with her leg, the doctors manage her pain with medications so the numbness doesn't spread, but they can't do anything else.

The numbness means she has to use crutches or a wheelchair to get around, because although she can hobble around without the crutches (like you would with a severely sprained ankle), it's not safe as her balance sucks and can do more harm than good. She only uses the wheelchair in the winter since the cold affects all of her joints and using crutches is agonising, but for half of the year, she can be on her feet.

[obfuscated-abstract]

Title: Hypermobility in patients with functional seizures: Toward a pathobiological understanding of complex conditions

Date: May 2022 Published in: Epilepsy & Behavior Publicly available: Yes

Citation: Koreki, A., Eccles, J., Garfinkel, S., Critchley, H., Cope, S., Agrawal, N., Edwards, M., & Yogarajah, M. (2022). Hypermobility in patients with functional seizures: Toward a pathobiological understanding of complex conditions. Epilepsy & Behavior, 132. https://doi.org/10.1016/j.yebeh.2022.108710

Abbreviations:

BS: Beighton scale

CBT: cognitive behavioural treatment

FND: functional neurological disorder

FS: functional seizures

PNES: psychogenic nonepileptic seizures

Article Summary

Abstract

Introduction

Functional seizures (FS) also known as psychogenic nonepileptic seizures (PNES) are episodes of altered awareness that resemble epileptic seizures or syncope but are not explained by these or other medical disorders. These are a common presentation in neurology and epilepsy clinics.

FS are associated with elevated morbidity and mortality rates as well as significant healthcare costs.

A current treatment is cognitive behavioural treatment (CBT) but this, and focussing on psychological comorbidities like anxiety and depression do not show definitive success. Recent research is centred around the interface between psychiatry and neurology in the case of FS

Join hypermobility (varied along a spectrum that includes Ehlers-Danlos syndrome and Marfan syndrome at its extreme) has been associated with several neuropsychiatric disorders including in a recent evaluation of a functional neurological disorder (FND) clinic which reported significant levels of hypermobility among patients, prompting this further investigation.

Methods

Diagnosis of FS made using the International League Against Epilepsy diagnostic criteria. Joint hypermobility was assessed using the Beighton Scale (BS).

Anxiety and depression were assessed with the State-Trait Anxiety Inventory and the Beck Depression Inventory

Results

Detailed results and statistical interpretation are given here. Hypermobility was significantly associated with FS independent of potentially confounding factors.

Figure 1 shows a plot supporting these findings

Discussion

Notwithstanding the selective nature of the study population, the results suggest that joint hypermobility is more frequently observed in patients with FS.

Since the study contained significantly more women (and joint hypermobility is more common in women), the prevalence of joint hypermobility was more common in the comparison group than the general population and the prevalence among patients with FS was even higher.

The results were significant even after controlling for anxiety and depression, suggesting that joint hypermobility is an independent likelihood factor for FS.

Differences in autonomic control , interoception, and brain structure which are associated with joint hypermobility may predispose patients to FS but more research is required to replicate these results and investigate the implications of this result on screening, diagnosis, and treatment of these patients.

Limitations to this study include that the examination was not blinded to whether the patient belonged to the FS or comparison group, and that other potential confounding factors such as occupation or chronic illness were not analysed (due to lack of information)

[hunterinabrowncoat]

What, exactly, is the purpose of changing the diagnostic criteria for hEDS/JHS because the similarities between them were confusing and they are literally the same condition under two different names, if all you’re going to do is make an hEDS diagnosis have much stricter criteria, then give Joint Hypermobility Syndrome a new name (Generalised Hypermobility Spectrum Disorder/ G-HSD) that has LITERALLY ALL THE SAME SYMPTOMS

Like... if the best explanation for somebody who has chronic joint pain, hypermobility, frequent subluxes, velvety soft skin, stretchy skin, dizziness, gastro issues, brain fog, chronic fatigue, bruises easily, palpitations, bad proprioception is that their connective tissue isn’t working properly... then pray what exactly is the logic in giving them a diagnosis that is essentially “here’s a name for the possible collection of symptoms you’re having. no known cause.”

??????

[edswellness]

Research: Validation for the Use of Self-Reported Drawings of Beighton Score for Assessing Joint Hypermobility

‘Development and validation of self-reported line drawings of the modified Beighton score for the assessment of generalised joint hypermobility’ (2018) – Development_and_validation_of_self-reported_line_d (PDF)

“The self-reported instrument provides a valid and reliable assessment of the presence of generalised joint hypermobility and may have practical use in epidemiological studies.”

[kaoticspoonie]

This is pretty cool!

Personal story - the rheumo I tried to see said he doubted my eds diagnosis bc I didn't score 9/9. He did it by sight, not using the ruler. He said my left knee wasn't hyperflexible... The one I have extra ligaments in to keep it from hyperextending and keep everything in place...

[obfuscated-abstract]

Title: Hypermobility, the Ehlers-Danlos syndromes and chronic pain

Date: September 2017 Published in: Clinical and Experimental Rheumatology Publicly available? Yes (pdf will download)

Citation: Syx, D., De Wandele, I., Rombaut, L., & Malfait, F. (2017). Hypermobility, the ehlers-danlos syndromes and chronic pain. Clin Exp Rheumatol, 35 (5), 116–122.

Abbreviations:

ECM: extracellular matrix

EDS: Ehlers-Danlos syndrome (lowercase letters in front indicate the subtype; e.g., hypermobile EDS = hEDS)

GJH: generalised joint hypermobility

HSD: hypermobility spectrum disorder

JH: joint hypermobility

JHS: joint hypermobility syndrome

MSK: musculoskeletal

Article Summary

Abstract

Hypermobility, joint hypermobility syndrome, and Ehlers-Danlos syndromes

Joint hypermobility (JH) is a range of movement in a joint that exceeds what is normal (accounting for the age, gender, and ethnicity). JH can be localised or generalised with GJH being defined by a score of at least 5 on the Beighton scale.

JH has a strong genetic basis and is affected by gender, age, and ethnicity but can also be affected by environmental factors including weight, training, trauma, surgery, and medical conditions.

JH does not necessarily lead to symptoms and is not a disease or permanent diagnosis

The history and historical classifications related to GJH are detailed and the overlap with connective tissue disorders including Marfan syndrome, osteogenesis imperfecta, and notably Ehlers-Danlos syndromes (EDS)

EDS is a group of disorders that mainly affect the soft connective tissues but that are varied in their genetic and phenotypic (observable characteristics) presentations. Major characteristics include skin hyperextensibility and fragility; vascular fragility with easy bruisability and a variable bleeding tendency; joint hypermobility (usually generalised) and manifestations of generalised connective tissue fragility. The severity of symptoms can be varied.

There are now 13 EDS subtypes (expanded from the 6 originally identified in 1997) with molecular defects identified in 19 different genes. The effects are briefly discussed and Table III details these defects.

One of the most prevalent subtypes of EDS, hypermobile EDS (hEDS), is still molecularly unexplained. hEDS shows considerable overlap with JHS and it has been considered that they may be the same and/or can be used interchangeably. Hypermobility syndrome and JHS have therefore been combined into the single HSD diagnosis to be used for patients with symptomatic JH who do not meet the new criteria for hEDS or another form of EDS. This review uses JHS instead of HSD as it is a review of old literature (consider them interchangeable).

The natural history of pain in JHS and EDS

The compromised structural integrity of connective tissues, people with EDS and JHS are prone to joint instability, and as a result, joint disclocations (full displacements and subluxations), and articular and soft tissue injuries. This commonly causes acute and reccurent pain which can evolve to chronic widespread musculoskeletal (MSK) pain.

Approximately 3.3% of women and 0.6% of men experience chronic pain but these numbers are likely an underestimation since clinicians are generally unaware of GJH-related pain. More recent studies have found incidences of chronic pain over 90% in hEDS patients -- higher than that in cEDS. Clinicians report that pain is the primary reason fro seeking medical help and the most frequent complaint but more studies are needed.

Most studies focus on hEDS and many do not distinguish between hEDS and JHS.

Pain usually starts in early life and is often triggered by an apparent external factor such as an injury, surgery, psychological distress, or by a comorbidity. The pain is initially felt as an acute and localised symptom or as 'growing pains' related to the trauma. Muscle cramps, pariarticular inflammation, enthesopathies, and nerve entrapment syndromes can add to the localised MSK pain.

The pain later becomes widespread, most commonly presenting as arthralgias and myalgias (joint and muscle pains) in young adult and adult patients. The pain is most frequently localised in the neck, shoulders, forearms, fingers, hips, knees, and feet and may, at first, be localised to a few joints or muscles with a migratory pattern. The pain will gradually become more widespread and additional symptoms including burning sensations, peripheral paresthesias, generalised hyperalgesia, allodynia, and hypersensitivity to various stimuli (e.g., light, sound, and odors) become apparent. Pain in non-articular regions (e.g., headaches, gastro-intestinal, pelvic) as well as fatigue often appear. The underlying cause of the fatigue is unclear.

The pain is generally resistant to the use of analgesics (painkillers), surgery, and physical therapy. This can have a negative effect on physical, social, and emotional wellbeing.

The pathogenesis of pain in hypermobility and EDS

The underlying causes and mechanisms of pain in JHS and EDS are poorly understood.

Pain caused by an injury or damage (nociceptive pain) is often present, especially in early stages and neuropathic pain may also contribute to the pain (and account for parasthesias) and be exacerbated by dislocations and subluxations. Central sensitisation may also contribute to the pain becoming chronic.

It has been proposed that lack of proprioceptive acuity (ability to sense joint position and movement) and muscle weakness play a role in generating chronic pain. The fear of pain is common in people with JHS and hEDS and can cause deconditioning and exercise intolerance which leads to a cycle.

It is hypothesised that abnormalities in the extracellular matrix (ECM) can contribute to the generation and chronification of pain. The ECM has a clear role in the general detection of noxious stimuli (nociception) and painful injuries have been shown to alter the the ECM at acute and chronic time points after the injury. The ECM also has a role in neuroplasticity and connectivity of the central nervous system.

Patients with EDS have defects in different components of the ECM which can lead to a devastating impact on the nervous system. Defective connective tissue can also inhibits the body's ability to react protectively to stretching or pressure of peripheral nerves.

The abnormal ECM may contribute to the central sensitisation that causes the chronification of pain.

The complex nature of pain in JHS and EDS patients, fragmented understanding of the underlying mechanisms, and lack of reported effectiveness of treatments highlight the fact that the management of pain in JHS and EDS patients.

Management requires pharmacological and psychological therapy.

Conclusion