Book Review: ‘Understanding Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder’

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Although the syndromes we now know as Ehlers-Danlos (EDS) were first described as far back as 1892, the number of available materials for patients and medical professionals is surprisingly few. Considering Hypermobile EDS (hEDS) and the closely-related Hypermobility Spectrum Disorders (HSD) probably comprise at least 1% of the general population, the dearth of resources is even more alarming. In addition, recent changes in nosology mean that our understanding of these syndromes is still fluctuating significantly– with the likelihood that definitions will continue to experience “growing pains” in years to come.

Claire Smith is the Publication Editor and Partnership Director at the Hypermobility Syndromes Association in the UK, as well as mother to a daughter with EDS and who herself has an HSD. She has written this phenomenal book, Understanding Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder, which covers symptomology, diagnosis, and management extensively. It’s written in a reference manual format but in a friendly and easily accessible style. And even better, it’s written by a woman who has longtime firsthand experience with the challenges of hypermobility, the pain it often causes, and most of EDS’/HSD’s comorbid issues, like dysautonomia, mast cell activation syndrome (MCAS), and fibromyalgia. In short, it’s written by a zebra for zebras and for anyone who treats or cares for someone with the condition. It’s a book that patients and doctors alike should have on their bookshelves.

I have traditionally been an autism researcher. In full disclosure, I myself have somewhat recently been diagnosed with an HSD and for the past several years have been struggling with the pain and many of the comorbid complaints that come with this complicated condition. As I’ve continued to learn more from the phenomenal patient community available through resources like FaceBook, I’ve quickly learned that there are indeed links between EDS/HSD and autism, which have been understudied and which I am currently pursuing professionally.

Therefore, I also recommend this book to the autism community, particularly to females who are themselves on the spectrum or have a relative who is. You may find some of the associated challenges described in this book eerily familiar, such as a hypersensitive immune system or features of dysautonomia like gastrointestinal disorders, fatigue, and headaches. Likewise, you may find the suggestions for management of those symptoms equally enlightening.

This book is a thorough and excellent resource. For any novice zebra who’s wanting to learn more about her/his condition, how to go about seeking diagnosis, and how to manage her/his treatment regime, this book is a must have. And for zebras who are already old hat at this connective tissue disorder thing, it’s a great reference that may still teach you quite a few things you didn’t already know. And this is certainly a necessity for any physician who has any patients with EDS/HSD– regardless of whether s/he’s a general practitioner or specialist!

16 responses to “Book Review: ‘Understanding Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder’

  1. I’m interested in the links with autism, and also ADHD. Have diagnosed dysautonomia, have a joint hypermobility spectrum diagnosis that still needs to be updated to the post-2017 criteria, and have autism and others with hypermobility in the family. I wonder, too, if there are any links to epilepsy. That is also something in my family, though I dodged that bullet personally.

    • Not sure about epilepsy unfortunately. We’ve had difficulty recruiting enough participants with epilepsy with these other conditions (EDS/HSD, autism, etc.) to get a better handle on comorbidity rates. Right now epilepsy in EDS/HSD is ranging in between that of controls (no cases) and high-functioning autism (6%). But the numbers are still too small to get enough statistical power to know for sure. Those numbers are based off about 480 respondents but that’s still not a large enough data pool given the low epilepsy rates.

  2. I realized above it sounded like *I* had ASD, when I meant to say that *both* it and hypermobility run in my family. I have diagnosed ADHD, and I am guardian of someone with a severe ASD spectrum diagnosis. That grammar ambiguity, though, does bring up the further question of where ADHD fits with the comorbidities. I didn’t take your survey because my relative is male, but if you have one for females with ADHD, I’d do it.

    • Ah I see. If your male relative is a 1st degree relative then you would have been placed in the “family members” subgroup for the survey. But definitely there’s plenty of overlap between many neurodevelopmental conditions and autism. They all kind of lie on the same spectrum, especially within individual families. That’s of course not to say that ALL forms of ADHD share an underlying cause with autism. But when ADHD and other neurodevelopmental conditions occur in autism families, that’s usually a good indicator they’re different sides to the same die, so to speak. In terms of severe autism though, that often may indicate that something in addition to family heredity has occurred; whether that’s an additional mutation event that’s made the autism propensity that much more severe, some kind of environmental influence such as a prenatal infection, or a combination of both. In general, the more severe the condition, the more severe (and rare) the cause. That’s often why families with only a single incidence of autism (simplex) are more likely to have rare mutations than families with multiple incidences, the latter being more “hereditary.” More often, simplex cases are due to a severe mutation in the germ cells that the mother/father don’t themselves have.

      • You can see evidence of ADHD and the various complications of hypermobility etc. as chronic illnesses in my family for generations. It’s so apparent once you think to look that it’s hard to believe I wasn’t diagnosed with either until adulthood, but my brother (who has the severe autism and epilepsy) is my only relative with an actual autism spectrum diagnosis at all, much less severe autism. We clearly genetically have ADHD, but not necessarily ASD. I’ve wondered what that means for us as “carriers” for ASD genes (or not) and whether ADHD “counted” for inheritance studies. My brother had enough complications from epilepsy and severe asthma in infancy that there definitely could be an epigenetic component. He’s unusual – he spoke early and seemed to be very precocious in his first year. Then, he faced multiple medical crises in his second year and regressed completely. I have heard tapes of him speaking at age twelve months that no doctor ever believed was even him because it was “impossible” to think someone with those early skills could end up so profoundly disabled. This is cool to learn – if you try and track down what epigenetic switch flipped to create my brother’s severe singleton autism case in a family full of folks with historically ADHD and other chronic illnesses only, let me know. πŸ™‚

      • Interestingly, there’s indications that infants who eventually develop regressive autism often have enhanced abilities in certain basic areas (e.g., language) compared to typically developing controls. Even though the differences can be subtle, in this instance “ability” rather than “disability” can be see as a potential risk factor. The immune system may also play an important role in regression risk. People with EDS/HSD for instance often have a characteristic immune profile, one of oversensitivity (e.g., MCAS at the extreme end), autoimmunity, etc. This can run in families. So it’s possible your brother had a mild propensity for autism that, along with complicating medical issues, led to some additional brain damage that exaggerates the expression of the autism. When regression occurs, sometimes following an immune insult, important nerve fibers in the brain can be lost. If that occurs in some of the longer fibers, such as the corpus callosum that traverses the brain hemispheres, even after the acute reaction dies down those fibers can’t be regrown because that type of growth occurs only during a specific time window during early development. Smaller corpus callosum size is often associated with the social communication problems seen in autism, because it normally helps to coordinate and integrate all that complex social information. But in the case of autism, if those regions of the brain can’t communicate well with each other, then socialization can be markedly impaired. –Although it’s currently just a hunch, I suspect that regressive autism may be a bit more common in EDS/HSD families because of the immune vulnerability. Having an exaggerated immune response to an illness or even vaccination during the late infancy/toddlerhood time period can also significantly affect the brain, causing it to become “hyperexcitable” (certain immune factors associated with fever like IL-1 are known to stimulate neurons). This hyperexcitability effectively lowers the threshold for things like seizures and probably also for the development of autism symptoms.

  3. P.S. – said male relative also has epilepsy and chronic migraines. I have the migraines, but have only ever had one seizure. If you ever do want someone with that family history to do more internet research surveys, I’m usually game.

  4. I thought of you and your research the other day when I saw this video of a remarkable young dancer with ASD. https://www.youtube.com/watch?v=2wJ1K8v2ZDE&list=PLg2TAoHnx-ak0jqscNhYTMBby2m287f2C&index=16

    On Sun, Feb 11, 2018 at 8:06 PM, Science Over a Cuppa wrote:

    > Emily Casanova posted: ” Although the syndromes we now know as > Ehlers-Danlos (EDS) were first described as far back as 1892, the number of > available materials for patients and medical professionals is surprisingly > few. Considering Hypermobile EDS (hEDS) and the closely-related ” >

  5. Pingback: New Book on EDS and HSD – The Zebra Pit·

  6. Oh my goodness, I can’t believe that I have only just found your blog! This book has become our go to coffee table book – and I had planned on writing a review, but really can’t top yours! I have started to have a look around your site and as an ex nurse love the medical aspect to it. I have shared your link on my Pain Pals Blog reg feature “Monday Magic – Inspiring Blogs for You!” Claire x

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