THIS is what I've been wanting to see discussed!! I am definitely cluster three. I just barely met the diagnostic criteria for hEDS and got diagnosed in 2022 and was then diagnosed with 10+ other conditions including CCI/AAI, occult tethered cord, and IIH. I think this is so so important because 99% of doctors will not consider these neurological/spinal conditions when they hear of an hEDS diagnosis and the patients are left with the responsibility to discover these things on our own, do our own research, put the pieces together and most likely travel out of state to get care which is a HUGE burden and totally inaccessible for many people who can't afford to do, can't take the time off work, or are too debilitated. And these conditions are very debilitating and often progressive (hEDS is obviously not progressive but OTC for example is). I'm thankful for social media and support groups for helping me figure out I had these conditions but it would be great if my hEDS diagnosis was a flag to be screened for these things so I didn't have to be my own doctor 24/7!
Another thing worth noting is that not only is the Beighton scale sometimes unreliable but diagnostic criteria such as chiari malformation, CCI, AAI and MCAS, MCAD are such specific diagnostics that so many of us, if we have gotten through the hurdles of getting diagnosed, we still may absolutely have no access at all to these kinds of tests. Insurance hurdles and the economics of it all can literally mean our care ends here, right outside the diagnostic line. This has the power to skew data, too. There’s so much work to be done.
Didn’t the original study say that it was based on patient reported diagnoses, instead of official ones? I feel like the study organizers recognized this hurdle and allowed for self and informal diagnosis in the study.
Participants were eligible if they had a clinical “official” diagnosis of hEDS made by a medical professional. While this diagnosis was self reported, participants should not have been self-diagnosed. (I am one of the authors on this study)
I wasn’t referring to the hEDS dx. I was talking about CCI, MCAS, POTS, etc.
For instance, I have POTS and am on beta blockers to manage symptoms, but because I’ve never had a TTT there’s no “official” dx in my medical records. Based on manual therapy treatments from a PT and DO, I’m confident I have AAI/CCI, but access to standing MRIs and people competent enough to dx those conditions is all but inaccessible.
My point was that by allowing patients/participants to fill out a survey of dx instead of mining medical records (with consent), you, as the authors and organizers of the study, allowed patients to include diagnoses that are less formal — but not necessarily less accurate — possibly due to the difficulty in acquiring many of the diagnoses included.
I apologize if anything doesn’t make sense. I have a bad habit of writing complex sentences, and I’m not always sure the best way to punctuate them to best get my meaning across. It’s something I’m working on.
This is so interesting and important- teasing out subgroups feels like a potentially hopeful path to nuanced and meaningful treatment. Thank you for presenting it so clearly!
I run a group for people with what we call 'neuro hEDS' (cluster 3s) and one major frustration is that level of joint hypermobility and severity of symptoms don't correspond. For instance, How far you can turn your head doesn't actually seem as relevant to CCI as it might seem.
Also need to consider csf leaks, IH and blood flow issues such as IJV and aTOS in this group.
I was wondering if IH counted as a “neurological” diagnosis in this context. Based on my experience, jaw issues (TMD) may be a better indicator of CCI than how far you can turn your head.
Fascinating how 43.79% have Raynaud's phenomenon (I also have it). However, it is infuriating to read how all the way back in 1989, Greaves et al. found that "the results showed that the saliva of patients with connective tissue diseases contained increased amounts of immunoreactive tissue kallikrein." Greaves, D., Whicher, J. T., Bhoola, K. D., Scully, C., Flint, S., Porter, S. R., ... & Matthews, R. (1989). Anionic salivary proteins associated with connective tissue disorders: sialated tissue kallikreins. Annals of the Rheumatic Diseases, 48(9), 753-759.
So again, thank you for your groundbreaking research that has ushered in a paradigm shift, for the first time explaining the pathophysiology of this so-called "invisible illness." hEDS should be renamed Kallikrein-Gensemer syndrome in honor of your remarkable contribution. Edvard Ehlers and Henri-Alexandre Danlos, though historically significant, did not contribute to this specific advancement. Instead, your pioneering work on the Kallikrein gene family deserves to be attributed.
I’m cluster 3, but NOT hEDS. I was initially diagnosed clEDS, but after whole genome was found to be oiEDS (aka C1-ROD). Since it was only JUST discovered and (re)named, I wonder how many cluster 3 are like me? Perhaps they have a rare form or even oiEDS, that has not been properly identified (and therefore they aren’t a cluster of hEDS at all, but their own subtype).
I have CCI, fusions, mcas, pots, compression syndromes, Crohn’s, vascular issues, cardiac issues, many neurological conditions, I’m probably over 14 diagnosis now. I fit 3 to a T, except the hEDS part 😜.
What I would also find really interesting is seeing how people fit into these clusters as they age.
I would have put myself into cluster 2 until about 5 years ago, when I developed many many more comorbidities including CCI and MCAS and much more severe gut problems, and would now firmly say I’m cluster 3.
Really interesting, thanks so much for sharing. I suspect I’m probably type 3 cluster.. when genetics are used for diagnosis, is it only the specific gene variants which have been identified which can confirm type of EDS? I know it’s not medically accurate for diagnosis, when I did my Ancestry DNA I saw I had multiple COL gene variants, and TNXB variant too. I wondered if these could be indicators of EDS type, if I was to have the genetic panels done.
I’m not figuring where we fit in. Me and my two daughters! What is best place in Charleston to manage adult EDS? Have great pediatrician but that she’ll two of us
My daughter is cluster 3- she is quite young, 18. She's been symptomatic since 12/13 yo. Questions I always have- prognosis for people who are younger vs older with symptom onset & diagnosis- and I am also curious if y'all are looking at how the clusters relate to the genetic variant you've discovered? Also Cluster 3 does seem to be very distinct with the Chiari/Tethered Cord- could there be a genetic phenotype at play there?
THIS is what I've been wanting to see discussed!! I am definitely cluster three. I just barely met the diagnostic criteria for hEDS and got diagnosed in 2022 and was then diagnosed with 10+ other conditions including CCI/AAI, occult tethered cord, and IIH. I think this is so so important because 99% of doctors will not consider these neurological/spinal conditions when they hear of an hEDS diagnosis and the patients are left with the responsibility to discover these things on our own, do our own research, put the pieces together and most likely travel out of state to get care which is a HUGE burden and totally inaccessible for many people who can't afford to do, can't take the time off work, or are too debilitated. And these conditions are very debilitating and often progressive (hEDS is obviously not progressive but OTC for example is). I'm thankful for social media and support groups for helping me figure out I had these conditions but it would be great if my hEDS diagnosis was a flag to be screened for these things so I didn't have to be my own doctor 24/7!
Another thing worth noting is that not only is the Beighton scale sometimes unreliable but diagnostic criteria such as chiari malformation, CCI, AAI and MCAS, MCAD are such specific diagnostics that so many of us, if we have gotten through the hurdles of getting diagnosed, we still may absolutely have no access at all to these kinds of tests. Insurance hurdles and the economics of it all can literally mean our care ends here, right outside the diagnostic line. This has the power to skew data, too. There’s so much work to be done.
Definitely! You are already one step ahead of me - my next blog is going to be on some of those limitations
Plus, Beighton scores can change so much (age, activity level, muscle mass, injury); they’re not a reliable indicator.
Didn’t the original study say that it was based on patient reported diagnoses, instead of official ones? I feel like the study organizers recognized this hurdle and allowed for self and informal diagnosis in the study.
Participants were eligible if they had a clinical “official” diagnosis of hEDS made by a medical professional. While this diagnosis was self reported, participants should not have been self-diagnosed. (I am one of the authors on this study)
I wasn’t referring to the hEDS dx. I was talking about CCI, MCAS, POTS, etc.
For instance, I have POTS and am on beta blockers to manage symptoms, but because I’ve never had a TTT there’s no “official” dx in my medical records. Based on manual therapy treatments from a PT and DO, I’m confident I have AAI/CCI, but access to standing MRIs and people competent enough to dx those conditions is all but inaccessible.
My point was that by allowing patients/participants to fill out a survey of dx instead of mining medical records (with consent), you, as the authors and organizers of the study, allowed patients to include diagnoses that are less formal — but not necessarily less accurate — possibly due to the difficulty in acquiring many of the diagnoses included.
I apologize if anything doesn’t make sense. I have a bad habit of writing complex sentences, and I’m not always sure the best way to punctuate them to best get my meaning across. It’s something I’m working on.
This is so interesting and important- teasing out subgroups feels like a potentially hopeful path to nuanced and meaningful treatment. Thank you for presenting it so clearly!
I run a group for people with what we call 'neuro hEDS' (cluster 3s) and one major frustration is that level of joint hypermobility and severity of symptoms don't correspond. For instance, How far you can turn your head doesn't actually seem as relevant to CCI as it might seem.
Also need to consider csf leaks, IH and blood flow issues such as IJV and aTOS in this group.
I was wondering if IH counted as a “neurological” diagnosis in this context. Based on my experience, jaw issues (TMD) may be a better indicator of CCI than how far you can turn your head.
Where is this group?
Facebook... UK zebras cci is the name. Feel free to join us
I’m in the US. Is IJV considered a cardiac issue, a neuro issue, or a lymphatic issue?
I would really have liked to see the data on IH amongst EDS patients. It’s such an under-researched area, I feel.
Fascinating how 43.79% have Raynaud's phenomenon (I also have it). However, it is infuriating to read how all the way back in 1989, Greaves et al. found that "the results showed that the saliva of patients with connective tissue diseases contained increased amounts of immunoreactive tissue kallikrein." Greaves, D., Whicher, J. T., Bhoola, K. D., Scully, C., Flint, S., Porter, S. R., ... & Matthews, R. (1989). Anionic salivary proteins associated with connective tissue disorders: sialated tissue kallikreins. Annals of the Rheumatic Diseases, 48(9), 753-759.
So again, thank you for your groundbreaking research that has ushered in a paradigm shift, for the first time explaining the pathophysiology of this so-called "invisible illness." hEDS should be renamed Kallikrein-Gensemer syndrome in honor of your remarkable contribution. Edvard Ehlers and Henri-Alexandre Danlos, though historically significant, did not contribute to this specific advancement. Instead, your pioneering work on the Kallikrein gene family deserves to be attributed.
I’m cluster 3, but NOT hEDS. I was initially diagnosed clEDS, but after whole genome was found to be oiEDS (aka C1-ROD). Since it was only JUST discovered and (re)named, I wonder how many cluster 3 are like me? Perhaps they have a rare form or even oiEDS, that has not been properly identified (and therefore they aren’t a cluster of hEDS at all, but their own subtype).
I have CCI, fusions, mcas, pots, compression syndromes, Crohn’s, vascular issues, cardiac issues, many neurological conditions, I’m probably over 14 diagnosis now. I fit 3 to a T, except the hEDS part 😜.
What I would also find really interesting is seeing how people fit into these clusters as they age.
I would have put myself into cluster 2 until about 5 years ago, when I developed many many more comorbidities including CCI and MCAS and much more severe gut problems, and would now firmly say I’m cluster 3.
Really interesting, thanks so much for sharing. I suspect I’m probably type 3 cluster.. when genetics are used for diagnosis, is it only the specific gene variants which have been identified which can confirm type of EDS? I know it’s not medically accurate for diagnosis, when I did my Ancestry DNA I saw I had multiple COL gene variants, and TNXB variant too. I wondered if these could be indicators of EDS type, if I was to have the genetic panels done.
I’m not figuring where we fit in. Me and my two daughters! What is best place in Charleston to manage adult EDS? Have great pediatrician but that she’ll two of us
Are you in the south carolina EDS facebook group? There are a lot of great resources there, many people live in Charleston!
My daughter is cluster 3- she is quite young, 18. She's been symptomatic since 12/13 yo. Questions I always have- prognosis for people who are younger vs older with symptom onset & diagnosis- and I am also curious if y'all are looking at how the clusters relate to the genetic variant you've discovered? Also Cluster 3 does seem to be very distinct with the Chiari/Tethered Cord- could there be a genetic phenotype at play there?