Ehlers-Danlos receives new classification update

‘Most neglected disorder in modern medicine’ receives major classification update | The Ehlers Danlos Society

This long-awaited review updates the diagnostic criteria for the first time in 20 years, and provides management and care guidelines.

Full paper will be published
on March 15th.

Latest Info 3/16
2017 EDS International Classification

The American Journal of Medical Genetics publishes new research on the Ehlers-Danlos syndromes

The Ehlers-Danlos Society, representing a recently formed international consortium of over 90 experts on the Ehlers-Danlos syndromes, will release the culmination of two years of review on Wednesday, March 15th.

This publication clarifies the bases for the diagnosis of and updates the descriptions of more than a dozen different types of the Ehlers-Danlos syndromes.  

This long-awaited review updates the diagnostic criteria for the first time in 20 years, and provides management and care guidelines.

It also introduces the newly-described hypermobility spectrum disorders.

Public access is confined to just these abstracts for now, but the full information will be available March 15th.

Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history – PubMed – NCBI – Am J Med Genet C Semin Med Genet. 2017 Feb

Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H.

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 of 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.

Pain management in the Ehlers-Danlos syndromes. – PubMed – NCBI ; Am J Med Genet C Semin Med Genet. 2017 Feb

Chronic pain in the Ehlers-Danlos syndromes (EDS) is common and may be severe. According to one study, nearly 90% of patients report some form of chronic pain.

Pain, which is often one of the first symptoms to occur, may be widespread or localized to one region such as an arm or a leg

Studies on treatment modalities are few and insufficient to guide management.

The following is a discussion of the evidence regarding the underlying mechanisms of pain in EDS

The causes of pain in this condition are multifactorial and include joint subluxations and dislocations, previous surgery, muscle weakness, proprioceptive disorders, and vertebral instability

Affected persons may also present with generalized body pain, fatigue, headaches, gastrointestinal pain, temporomandibular joint pain, dysmenorrhea, and vulvodynia

Pain management strategies may be focused around treating the cause of the pain (e.g., dislocation of a joint, proprioceptive disorder) and minimizing the sensation of pain. Management strategies for chronic pain in EDS includes physical therapy, medications, as well as durable medical equipment such as cushions, compressive garments, and braces. The different modalities are discussed in this paper.

Neurological and spinal manifestations of the Ehlers-Danlos syndromes. – PubMed – NCBI ; Am J Med Genet C Semin Med Genet. 2017 Feb

The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility.

This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves.

Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression.

This report also discusses increased prevalence of migraine, idiopathic intracranial hypertension, Tarlov cysts, tethered cord syndrome, and dystonia, where associations with EDS have been anecdotally reported, but where epidemiological evidence is not yet available.

Chiari Malformation Type I (CMI) has been reported to be a comorbid condition to EDS, and may be complicated by craniocervical instability or basilar invagination.

Motor delay, headache, and quadriparesis have been attributed to ligamentous laxity and instability at the atlanto-occipital and atlantoaxial joints, which may complicate all forms of EDS.

Discopathy and early degenerative spondylotic disease manifest by spinal segmental instability and kyphosis, rendering EDS patients prone to mechanical pain, and myelopathy.

Musculoskeletal pain starts early, is chronic and debilitating, and the neuromuscular disease of EDS manifests symptomatically with weakness, myalgia, easy fatigability, limited walking, reduction of vibration sense, and mild impairment of mobility and daily activities.

Consensus criteria and clinical practice guidelines, based upon stronger epidemiological and pathophysiological evidence, are needed to refine diagnosis and treatment of the various neurological and spinal manifestations of EDS.

Full information will be published

on March 15th.


7 thoughts on “Ehlers-Danlos receives new classification update

  1. Laura P. Schulman, MD, MA

    I’m excited to see the whole thing! I think I’m finally ready to get my diagnosis formalized. After a serious vascular access scare with surgery two weeks ago, it’s clear this is not simply academic.

    Interesting, I’ve almost never been without pain in my life. It’s just a given. The downside of that is, by the time anyone takes me seriously, there’s massive tissue destruction. I’ve now got surgical lesions active in three areas. I had to coax my orthopedist to do a shoulder MRI (my official range of motion is normal, because my “well” ROM is so absurdly supra-normal, and I ignore pain). Two full-thickness rotator cuff tears plus a lengthwise split in the biceps tendon that is hung up on a bony prominence and twangs over it like a freakin guitar string. Ouch!!!

    Liked by 1 person

  2. Lis

    I’ve been excited and scared about this. I’m on a waitlist for a geneticist after dealing with issues for years. Like recently, I injured my shoulder just taking down a closet door back in December. When I saw the ortho, only ordered an x-ray to check for dislocation or labrum tear. When I mentioned the hypermobility in my joints, he told me I’m not because he saw a little girl with much worse. The whole time I’m thinking, “My dude, that’s not how this works.” Besides which, they wasted money on that damn x-ray because I could have told it was fucking tendinosis. I’ve had it enough times in various body parts to know what it feels like and how it behaves. The experience made it apparent that I needed a firm diagnosis or else there’d more shit to come. Given that my shoulder is acting like my right ankle did before it went completely to shit, it’s probably going to be a chronic problem.

    Liked by 2 people

    1. Zyp Czyk Post author

      I’ve found it doesn’t even help much to be diagnosed with EDS, except for my own peace of mind.

      Bad doctors just completely ignore it when I tell them – act like they didn’t even hear me. Only a doctor of quality will even react to that info, in my experience.

      Liked by 2 people

  3. Laura P. Schulman, MD, MA

    I’m sorry you’re struggling with this, too. I think the overwhelming majority of ortho docs will not have much familiarity with EDS. I think it comes under the “zebra” heading for them (“when you hear hoofbeats, don’t think of zebras”). I saw some hotshot spine dude at the Cleveland Clinic and was trying to explain to him that little hyperextensible girls, if they live that long, grow up to be arthritic little old ladies whose tissues shred for no particular reason.

    Liked by 2 people

  4. Emily Raven

    So I hate to have to put on the tinfoil hat… But I feel certain people may be royally screwed, so here goes:

    1. In this country (the US) hypermobility syndrome is always ALWAYS assumed to be benign and is treated as such to the point people are verbally abused by so called specialists when they insist to these professionals something is actually wrong. I think the insurance codes also indicate a benign condition that doesn’t warrant much treatment (not sure, just from what I know anyone is welcome to fact check im going by what someone I know in my area that works in hospital insurance billing for an ortho has mentioned to me.)

    2. As such this opens up a whole possible can of worms for complete denial of care with the doctors hands totally clean because they are under no obligation to do much of anything for hypermobility nor is the insurance.

    3. I’d like to see names of all the specialists that worked on this new criteria and if they or the outfits they work with/for took money from insurance companies. Not sure if that would be available by non clandestine means but I think this is pretty damn important.

    Anyway, something just doesn’t feel right to me. I’ve been kicked in the teeth alot lately by people who are supposedly so much smarter than I with their little pieces of paper that “prove” their “intelligence” about my body. I pray im just being highly paranoid and my imagination has nothing better to do being housebound and unable to work on my hobbies or work or housework. Bless.

    Liked by 2 people

    1. Zyp Czyk Post author

      I haven’t had much luck telling docs I have EDS (they don’t think it’s relevant), so these days I say I have a “connective tissue disorder” which is something they’re more familiar with.

      Plus, that states the root cause of all the weird problems I run into. It at least let’s them contemplate the possible interplay between my symptom and my connective tissue.

      I don’t care about the diagnostic criteria – with so many symptoms, it’s pretty clear that I have EDS and luckily a geneticist agreed with me. The “official” diagnosis didn’t change anything for me – it only gives us “evidence” that our pain is severe and very real. I think that’s the most helpful part of the diagnosis.

      Liked by 2 people

      1. Emily Raven

        Maybe I just had these issues because of being on Medicaid and the money grubbing lazy chain I was bound to because of it. The way insurance works in my state it’s have the right code or kiss your care (even generic meds sometimes) goodbye. I just fear for others in my situation who can’t tell them to stick it and go without insurance proudly running up medical debt to get the care they actually need. Oddly where I was connective tissue disorder to them meant “mixed connective tissue” (like Lupus and the things that come up with rheum panels). Anyone who can find someone in the medical field even an RN or PA with half a brain shouldn’t suffer bery long because the “ah ha!” will come but people not diagnosed yet that run into McDoctors at their local Mchospital could be left to their own devices sadly.



Other thoughts?

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s

This site uses Akismet to reduce spam. Learn how your comment data is processed.