New Updates on HSD, JHS, and h-EDS (2017)

The new definitions, terminology and criteria for a better understanding of joint hypermobility disorders are here (2017). All the relevant links to articles in the Ehlers-Danlos Society website can be seen in one place: click here.

What is HSD?

Read the complete article “Hypermobility Disorders — An Update for Clinicians” By Alan Hakim, March 16, 2017 here.
What then is HSD? Read about Hypermobility Spectrum Disorder (HSD) here. Read a general overview on EDS vs HSD here.

Hypermobility spectrum disorders (HSD) are a group of conditions related to joint hypermobility (JH). HSD are intended to be diagnosed after other possible answers are excluded, such as any of the Ehlers-Danlos syndromes (EDS) including hypermobile EDS (hEDS). HSD, just like hEDS, can have significant effects on our health. HSD and hEDS can be equal in severity, but more importantly, both need similar management, validation, and care.

HSD and Ehlers Danlos Syndrome hypermobility type (h-EDS) are at present demarcated into two different diagnosis with considerable overlap of symptoms using a stricter diagnostic criteria for h-EDS. It does not mean HSD is less debilitating than h-EDS.
HSD being a spectrum now allows for a much larger range of people to get a diagnosis. I am hopeful that a lot of people dismissed as benign hypermobility will be now assessed using a different criteria. HSD itself is expanded by taking into consideration the localization of hypermobility. It also incorporates people who had joint hypermobility and have lost it with progressive age.
Excerpts: 
Joint hypermobility (JH) : The capability of joints to move beyond normal limits. JH can exist by itself or be a part of a more complex diagnosis. Those with joint hypermobility in a couple of joints (fewer than five) have localized joint hypermobility (LJH). Those of us with joint hypermobility in five or more joints are described as having generalized joint hypermobility (GJH).
There are other types of JH. Peripheral joint hypermobility is a form of that affects the hands and/or feet only. It is common in infants, toddlers, and children, in whom it is usually mild or has no serious effect. Another is proposed for older adults who have progressively lost JH, called historical joint hypermobility.
Joint hypermobility ranges from asymptomatic JH and GJH through to hEDS as part of the EDS. Along that continuum fall localized general spectrum disorder (L-HSD), peripheral hypermobility spectrum disorder (P-HSD), historical hypermobility spectrum disorder (H-HSD), and generalized hypermobility spectrum disorder (G-HSD). (From http://ehlers-danlos.com/what-is-hsd/) 

What is h-EDS?

Read about Ehlers-Danlos Syndrome (EDS), updated facts (2017) here.  Download the Ehlers Danlos Society brochure here. EDS hypermobility type or h-EDS is a subtype of EDS.
New Criteria for h-EDS: 
Domain 1
The presence of generalized joint hypermobility (based on the Beighton Score or 5-part questionnaire)
Domain 2
(A) – skin or fascia signs and/or pelvic floor concerns and/or Marfanoid features (having at least 5 of all the features mentioned
(B) a family history
(C) At least 1 of the following 3 presentations:
  • Musculoskeletal pain in 2 or more limbs recurring daily for at least 3 months, or
  • Widespread pain for ≥3 months, or
  • Recurrent joint dislocations in the absence of trauma –  3 or more atraumatic dislocations in the same joint, or atraumatic dislocations in 2 different joints occurring at different times, or medical confirmation of joint instability at 2 or more sites not related to trauma
Domain 3 The absence of any other underlying Heritable Disorder of Connective Tissue including other variants of EDS
Watch the 2017 EDS International Classification Webinar here. The webinar slides are here and the transcript here.

 

Beighton Score for assessing joint hypermobility

Central to all this is the assessment of joint hypermobility using the Beighton Score, read about it here and here.

 Beighton Score:

  • One point if while standing forward bending you can place palms on the ground with legs straight
  • One point for each elbow that bends backwards
  • One point for each knee that bends backwards
  • One point for each thumb that touches the forearm when bent backwards
  • One point for each little finger that bends backwards beyond 90 degrees.
What is then JHS? Joint Hypermobility Syndrome (JHS) has now become a historical term with the 2017 updates. Read about what used to be JHS here. If one was diagnosed as JHS, it is possible now they will fall under the category of HSD.

What then is BJHS?

It is my pet peeve, read about it here.

The new terminology within this spectrum updates and substitutes all previous terms used to define patients with JH but without a molecularly proved syndromic condition. Among these terms there are: Ehlers–Danlos syndrome type III, Ehlers–Danlos syndrome hypermobility type, hypermobility syndrome, joint hypermobility syndrome, and benign joint hypermobility syndrome. All these names are considered outdated and their use should be discouraged. 

Are clinicians discouraged? They were encouraged to drop the word benign in relation to hypermobility syndrome many years ago. Even before these 2017 updates, until last year, the accepted terminology by experts were: generalized hypermobility (GH), Joint Hypermobility Syndrome (JHS), h-EDS or EDS-HT (EDS hypermobility type) and JHS/h-EDS (when the diagnosing clinician found the demarcation difficult). But did that completely eradicate the use of the term benign joint hypermobility syndrome (BJHS)?

No.

Example:

Bisaralli, Rahul, et al. “Benign joint hypermobility syndrome: A case series.” Journal of Medical Society 31.1 (2017): 59.

Temizturk, Fatih, et al. “The frequency of benign joint hypermobility syndrome in patients undergoing inguinal hernia repair: a prospective study.” International Surgery (2016).

Sahin, Ebru, et al. “Impaired quality of life and functional status in patients with benign joint hypermobility syndrome.” MYOPAIN 23.1-2 (2015): 28-33.

Chelimsky, Gisela, et al. “Benign Joint Hypermobility Minimally Impacts Autonomic Abnormalities in Pediatric Subjects with Chronic Functional Pain Disorders.” The Journal of Pediatrics 177 (2016): 49-52.

Jacks, Stephanie K., and Matthew J. Zirwas. “Abnormal wound healing related to high-dose systemic corticosteroid therapy in a patient with Ehlers-Danlos syndrome benign hypermobility Type.” Cutis 98.4 (2016): E20. (This one is even more surprising!)

Kaur, Navjyot, et al. “Benign joint hypermobility syndrome with postural orthostatic tachycardia syndrome and acrocyanosis.” Medical Journal of Dr. DY Patil University 10.2 (2017): 175.

Çınar, Muhammet, et al. “Investigation of joint hypermobility in individuals with hyperbilirubinemia.” European Journal of Rheumatology 4.1 (2017): 36. (BJHS mentioned in body text)

Vogelgesang, M. D. “Recognizing, Diagnosing and Treating Benign Joint Hypermobility.” (2016).

videotogif_2017.03.23_15.52.20

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Exercising in hEDS

An excellent talk I highly recommend – I found it very helpful. Watch it full-screen, I am sure if you are new to this new to this condition and are watching it for the first time, you will want to take notes! 
 
Intelligent Exercise-How You Can Take Control with EDS
Webinar by Kathryn Lister,  October 28, 2015.
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As you live with this disease after getting a diagnosis, you know more and more about it and manage yourself better and better with time. It is different from intuitively figuring out a few things that make you better or worse, without diagnosis. In the latter, you often don’t have the necessary evidence or the scientific causality as to the WHY something aggravates your condition. So again, I think a diagnosis, even a partial but correct diagnosis is important. 
 
I am continuously learning, and as I find some things worth sharing I try to write here or on FB. Some ideas change or get refined too with time as I find more information or understand things better.  
 
I am writing below some key points I have learned over time about exercising, they are relevant to me and may not be all useful for another person. Every body and each case of hEDS/HSD is different and this is just a list of things that I found useful. These points are not just about exercises, they extend to other topics too, because often everything is interrelated. 
 

Body Awareness

  • Learn your body’s sign language: It is developing and sharpening a kind of “body intelligence”, that is helped by the already high interoception hEDS/HSD people have. But it is different from just interoception and feeling all the microthings happening in the body. It is discerning interoception + scientific knowledge + parameterizing. It is learning the difference between when you are feeling uneasy due to muscle fatigue, or due to dropping blood pressure, or GI issues. It does not work all the time but even a little awareness (instead of retrospective wisdom) is very helpful to understand and respect limits during exercises. So I can differentiate a good exercise effort that feels like pain from a No-I-should-not-be-doing-this pain. I understand my heart rate, hydration and blood pressure responses to exercises.
  • First do not harm: Find a good PT, but trust your own body sense too in following their instructions and advice. Listen to your body when exercising and stop when something does not feel right. I try not to do any movement or exercise I am unsure about. This is different from kinesiophobia which I had for years from severe back and lower limb pain, sciatica and neuropathic pain and spasms in legs. This is more about recognizing the limits and edges of my body. I want to exercise but I do not follow fads blindly. I would also advise against going to regular gyms where the trainers are not well-trained in body mechanics, posture, hypermobility and connective tissue disorders. 

Exercises

  • No stretching: Stretching feels good but should be avoided. The muscle in connective tissue disease often does not stretch well, but the tendons and ligaments may get damaged. I do a little stretches once in a while when feeling particularly stiff, but my main regimen does not consist of stretches. 
  • Redefine the concept of exercise: Exercise by definition is “activity requiring physical effort, carried out to sustain or improve health and fitness.” This may look like this for completely healthy people: 
jogging-297354_1280

Image courtesy Pixabay

 

 But on my bad day, exercise may look like this:
man-295475_960_720

Image courtesy: Pixabay

 

So exercising can take the form of just pushing myself out of bed, doing the chores mindfully, keeping my posture in mind, keeping my movements in mind, being aware that my joints don’t overextend as they support my weight. It can be rotating my shoulders as I sit in one place or even rotating my ankles and wrists when I am lying down. 
  • Self-care is an exercise:  As many of us know, trimming nails, brushing hair, wearing clothes are all exercises. You may not be up some of those on some days. Painting the nails is of course a complete workout, only few can do. Hot showers may be good or bad, depending on the day. They do help joint pains, stiff muscles and spasms. I do not have a bath, and anyway, I cannot lower myself into a bath and get out of it safely. The process of preparing for a shower, taking the shower, shampooing, applying body lotion, brushing one’s hair, dressing oneself, etc, is however, a serious workout and must not be mixed with other big activities in the same day. Foot bath is useful for foot pain. but the foot bath itself is a heavy unit that is not easily managed alone. Hot bags (with seeds) are useful for neck and back, followed with gentle exercises. 
  • Daily life is an exercise: Incorporate exercises into the daily schedule and count them as such. If I walk to bus stops, that is walking exercise. If I sit in the bus mindfully and am aware of and controlling the body’s reaction to the bus’s acceleration and torque, that is exercise. Grocery shopping, stairs instead of elevator, vacuuming, laundry folding, cooking, dusting and floor time with kids are all exercises in disguise. 
    • Isometrics and closed kinetic chain exercises: As the talk also mentions, these are the safe exercises for hEDS. There are many resources available online for finding low impact exercises, isometric exercises, water exercises if you have access to a pool, core strengthening exercises and relaxation exercises. 

Some excellent advice on exercises for hEDS is available at http://www.thefibroguy.com/hypermobility-advice/ 

 Pacing

  • Keep moving if possible: Muscle strength is difficult to build for me, and deconditioning happens very very fast. A few days of decreased activity – from influenza let’s say, and I am back by a few milestones. So if there is no serious prostration from flu or such illnesses, I try to push through the pain to maintain a low level of activity instead of taking a bed rest. This in fact prevents crashes like I used to have when I really had to be bed-bound for months. Like the speaker says, Exercise to EDS is like insulin is to diabetics. There is a #just5minutes initiative by Kendra Neilsen Myles (http://hypermobileyogi.com) that is something I agree with completely, that even on my worst days, I must move myself in some way for at least 5 minutes. 
 screenhunter_042bfeb-2b202b21-08
  • Less is more: Exercising does not often look like exercising in my case. The movements and presses and pushes are subtle, the activation of small muscles is important. The vigorous exercises are harmful for me. HEDS patients often don’t feel the end point of the range of motion easily and where they feel the edge, where the stretch feels right, where the limb feels straight or where the joint feels locked and stable is actually in an hyperextension state. So you have to trust that the small movements are going to benefit you and keep away from doing things too fast or too hard. 
  • Don’t overdo things on good days: Ok, I am still working on this one, but it is very very important. It is important to break up a comprehensive chore list or exercise list into blocks of equivalent effort. 

So earlier, I used to be able to do some 100 chores (count everything, assuming I am doing it all alone, and omitting “once in a long while” chores like washing duvets) in a week. Now, I do the same 100 chores, many with help, over 100 days. Obviously, that takes a lot of adjusting to the decreased level of organization or neatness in the household. Some large chores may need a following rest day.  So a good week for me may look like this:

(Just to be clear, good weeks are by far rare, but average and bad weeks won’t look too motivating here)

Similarly, I must not do too many exercises on a good day just because I can.  I have developed a regime of 30-40 exercises which can be done in groups of 4-6 over a period of 7-10 days. So I have different set of exercises for neck; back (lower, upper, pelvis); legs, ankle and feet; balance; shoulder; arms, wrist and fingers; cardiovascular endurance and knees. I also have a different classification like supine, prone (on my stomach), sidelying, standing, wall, kneeling, and swiss ball. So I mix and match, do a little everyday and try not to overdo anything in a single day. 

 screenhunter_052bfeb-2b202b21-10

 

Posture 

  • Posture is important: Use a mirror or a camera to understand poor postural habits. I benefited a lot from Esther Gokhale’s book on posture. I also used Foundation Training videos to change my bending pattern that was damaging my knees. Long years of spinal problems had completely stiffened my back, and I got into the habit of protecting my back, but abusing my knees during my movements. 
    • Proprioception: Proprioception is a big issue for many of us. I used snug knee warmers for years to develop a better sense of my knee movements when I walk. I use a wobbleboard at times to train my balance. I found this website very useful: 

http://www.thefibroguy.com/blog/integrated-proprioceptive-movement/

I also used standing on a foam board with my eyes closed and various kinds of stepping exercises to improve my proprioception. Improvement in proprioception immediately improves the way we do the exercises and what benefit we reap from them. 

Other considerations 

  • Sleep: Sleep is one of the important factors that determines how I go about the day. If I have slept an hour less the night before, that can lead to serious fatigue, nausea, dizziness, foggy thinking, etc. If I have been sleeping poorly for more than a day, then serious readjustment is required for everything else. So a lot of flexibility is required for daily life, and it includes canceling on people, being “selfish” and tolerating undone chores. 

Prioritizing: Prioritizing is critical to managing health-work-family balance. My #1 priorities are: taking care of my child, ensuring I eat healthy food (when eating store bought unhealthy food could allow me to keep more social commitments!) and doing the stuff that cannot or must not be left undone. Priorities #2 are keeping ties with close relatives which entails many forms and hours of communication, and experiencing meaningful moments with my family. Priority #3 comprises of communicating with friends and reading, including reading up on health related issues. And so on. So social media comes last for me, and I do not bother myself with it as I cannot keep up with the obligations and the rewards are not so valuable to me. 

 

  • Supplements:  I have deficiency of many vitamins, so I take those. I also take a low dose magnesium tablet, vitamin C 500 daily, and fish oil capsule. I am prone to cold infections, so I take appropriate supplements at times like Tulsi tablets, rooibos tea, ginger and turmeric tea. It is worth considering if you need any supplements, especially if you have any deficiencies. Also it is worth considering if there is enough evidence to support the benefits of the supplement you want to take and what are the adverse effects of the supplements.
  • Emotional and mental health: These are important considerations that must not be ignored – and if a bad phase is going on, necessary changes may be needed in the exercise regime and activities of daily life. 
  • Pain issues: Pain is one of the core issues of hEDS/HSD and it has many components. It can be nociceptive, arising from recent or immediate trauma or microtruama or it can be brain pain (arising from spinal cord and brain pathways) that leads to chronic unrelenting pain and turns even the sensation of stretch or slight muscle fatigue into intolerable pain. Chronic pain is a complete different field that requires comprehensive team based management that most of us do not have access to. Research and reading up can be helpful for self-management up to a certain extent. It may be useful to break the cycle of chronic pain so that one can start an exercise regime because sometimes the pain is so severe that you cannot even imagine trying to exercise. I am trying out TENS (transcutaneous electrical nerve stimulation) and acupuncture as a way to break some vicious cycles of unrelenting localized pain. In the past I also benefited from the local application of capsaicin for a localized chronic pain resulting from a very old healed muscle tear. The amplitude of the pain in that spot has decreased. I have bought a home TENS unit and it is too early to tell if it is going to provide any lasting benefit to me, but many hEDS patients benefit from it. 
 
Some useful posts from Jo Southall: 

 

http://ift.tt/2m7TxXt

http://ift.tt/2mlyjRI

 

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Some old talks on EDS/hEDS

New changes are happening in the diagnostic criteria of EDS, hEDS and hypermobility spectrum disorders. I would like to share some old talks again that are extremely informative and must-watch for anyone wanting to know about these  conditions.

Dr. Derek Neilson discusses EDS Hypermobility and what is needed to change the perception of this condition. 

 
 
 

Lecture given by Professor Shea Palmer to the North British Pain Association on the diagnosis, management and current research of joint hypermobility syndrome. Talks about evidence on some of the beneficial physiotherapy studies. 

 
 
 
 

“Association between EDS and Gut Problems” presented by Dr. Qasim Aziz in a public webinar on June 8, 2016. 

 
 
 

Prof. Rodney Grahame talks on “EDS- past, present and future”, EDNF 2015

 

 

Dr. Blair P. Grubb talks on POTS and hypermobility, EDNF 2015

 
 
 

Dr. Heidi Collins and her famous and timeless “If You Can’t Connect the Issues, Think Connective Tissues

 

 

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Reblog: Lily’s blogpost on Proprioception

Proprioception – http://wp.me/pno7z-DA

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Latest Updates: Feb 2017: A Framework for the Classification of Joint Hypermobility and Related Conditions

A Framework for the Classification of Joint Hypermobility and Related Conditions

Authors: MARCO CASTORI,* BRAD TINKLE, HOWARD LEVY, RODNEY GRAHAME,

FRANSISKA MALFAIT, AND ALAN HAKIM

Am J Med Genet Part C Semin Med Genet 9999C:1–10.

-A new classification system for Ehlers–Danlos syndrome (EDS) identifies more than 20 types of EDS which has led to patients who do not fulfil the criteria of “full-blown” EDS-HT but have many features of hEDS and Joint Hypermobility, to be left without a diagnosis.

– Highlights the need for a single set of criteria that can substitute the previous criteria for the overlapping conditions of JHS and EDS-HT

– Introduces a concept of a spectrum of pathogenetically related manifestations of joint hypermobility intersecting with syndromes that manifest as multiple conditions including joint hypermobility resulting from a single gene (pleiotropic syndromes)  – as distinctly apart from other syndromes with joint hypermobility

Proposed classification:

classif

 

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Latest Updates: Feb 2017: Hypermobile Ehlers–Danlos Syndrome:Clinical Description and Natural History

Top experts on HEDS come together in this review article to describe what is known and understood so far about the cause, presentation and management of HEDS.

Hypermobile Ehlers–Danlos Syndrome (a.k.a. Ehlers–Danlos Syndrome Type III and Ehlers–Danlos Syndrome Hypermobility Type): Clinical Description and Natural History

Authors: BRAD TINKLE, MARCO CASTORI, BRITTA BERGLUND, HELEN COHEN, RODNEY GRAHAME, HANADI KAZKAZ, AND HOWARD LEVY

Am J Med Genet Part C Semin Med Genet 9999C:1–22.
Abstract: The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations—joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder.

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Not just the joints: A review article on the comorbidities of JHS/HEDS

Ehlers–Danlos Syndrome – Hypermobility Type: A Much Neglected Multisystemic Disorder

Yael Gazit, Giris Jacob, and Rodney Grahame.

Excerpt from abstract:

Throughout the years, extra-articular manifestations have been described, including cardiovascular,
autonomic nervous system, gastrointestinal, hematologic, ocular, gynecologic, neurologic, and psychiatric
manifestations, emphasizing the multisystemic nature of EDS-HT. Unfortunately , EDS-HT is underrecognized
and inadequately managed, leading to neglect of these patients, which may lead to severe disability that almost certainly could have been avoided. In this review article we will describe the known
manifestations of the extra-articular systems.

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Daily Life

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The difference between healthy and unhealthy yoga back bends.(Link: Gokhale Method Institute Blog)

In Yoga: Bend Back, Don’t Swayback!

https://gokhalemethod.com/blog/62807

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Scientists uncover genetic explanation that could explain mechanisms in EDS, POTS and MACS

https://www.nih.gov/news-events/news-releases/nih-scientists-uncover-genetic-explanation-frustrating-syndrome

Scientists at the National Institutes of Health have identified a genetic explanation for a syndrome characterized by multiple frustrating and difficult-to-treat symptoms, including dizziness and lightheadedness, skin flushing and itching, gastrointestinal complaints, chronic pain, and bone and joint problems. Some people who experience these diverse symptoms have elevated levels of tryptase — a protein in the blood often associated with allergic reactions. Multiple copies of the alpha tryptase gene drive these tryptase elevations and may contribute to the symptoms, according to a new study led by investigators at NIH’s National Institute of Allergy and Infectious Diseases (NIAID).

Other studies have indicated that four to six percent of the general public has high tryptase levels. While not all of these people experience symptoms, many do, raising the possibility that this mildly prevalent trait in some cases drives the symptoms, although how it does so remains unclear….

Previously, NIAID researchers had observed that a combination of chronic and sometimes debilitating symptoms, such as hives, irritable bowel syndrome and overly flexible joints, runs in some families and is associated with high tryptase levels. Many affected family members with high tryptase also reported symptoms consistent with disorders of autonomic nervous system function (dysautonomia), including postural orthostatic tachycardia syndrome (POTS), which is characterized by dizziness, faintness and an elevated heartbeat when standing up.

Reference:

“Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number”, Jonathan J Lyons et al. 

Corresponding author: Joshua D Milner

Nature Genetics (2016), doi:10.1038/ng.3696

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