3 ms·

This is great, check my post history, I've been beating this drum for many years now. hEDS is very very very under-diagnosed and this one simple fact is suffici

This is great, check my post history, I've been beating this drum for many years now. hEDS is very very very under-diagnosed and this one simple fact is sufficient to explain a the prevalence of a whole zoo of seemingly unrelated conditions. There is an incentive to keep hEDS as a 'rare' disease as the US has extra grants for disease in this classification and this has put pressure on diagnostic criteria which was made more strict so fewer people would be diagnosed with it. I'm about to head out for lunch so this will have to be a shorter post but I'll touch on some of the major points. * The progression of prevalence of hEDS over the years has gone from 1/50K, 1/15k, 1/5k, to 1/500 which is insane. Most people are using values from older studies so they think it is much rarer than it actually is. * I don't see a strong distinction between hEDS and HSD, diagnosis appears to be mainly a matter of severity but due to that being rather random there isn't a clear distinction. * The TNXB gene is overlooked because too many people have SNPs here and the assumption of the rarity of hEDS rules it out. It seems that number and type of TNXB SNPs as well as other RCCX genes also govern severity. * If you look at long covid information the proportion of those who have hEDS/HSD is far higher than it should be. Dr Jessica Eccles has great research on this, I think the obvious explanation here is far more people have hEDS/HSD than have been diagnosed with it, and these conditions create a strong predisposition to ME/CFS/LongCovid. * Average time to diagnosis is 20 years from the onset of symptoms, which is insane, but it gets worse when you consider that the vast majority with it never get diagnosed, so the average is really never. I have a rather severe form of this and even I would have a hard time getting diagnosed with hEDS - I look too healthy. I've never been formally diagnosed but have a Whole Genome Sequence with the expected TNXB SNPs. Things that I've tried and worked; * Low Dose Naltrexone (LDN) is a great start (mentioned here in the pdf) * Supplemental T3 as sub-clinical hypothyroidism is pretty common * I think a combination of weak ligands like Modafinil and Amitriptyline can really help with dysautonomia * I take low dose of semiglutide and this seems to help with the auto-immune aspect * I take Ipa/ModGRF(no dac), BPC157/TB5, and VIP * High dose TUDCA and high dose DIM * Supplemental testosterone * Zero sugar diet, including no fruit. I basically subsist on kale salads and steak.

verisimi 6mo ago
hEDS - Hypermobile Ehlers-Danlos Syndrome, I think. "Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder that causes generalized joint hypermobility, joint instability, and chronic pain." HSD - Hypermobility spectrum disorder. "Hypermobility spectrum disorders are a group of heritable connective tissue disorders where joints are flexible enough to cause problems such as instability and pain."
- cjbgkagh 6mo ago
  In practice HSD was an evolution away from benign hypermobility so it’s generally considered not to cause issues beyond the physical discomfort. hEDS is considered too rare and to actually diagnose someone with it would mess up their health insurance for a condition doctors don’t believe can be treated. So they avoid diagnosing it which creates prevalence data that feeds back into the initial assumptions. My view of HSD is that it is just a milder hEDS and all the other problems still exist even if most are not detectable. Most people spend their lives being told nothing specific is wrong with them and how are they to know better, after all doesn’t everyone get tired from time to time. Because I’m good at stats I was able to figure out that either I’m the unluckiest person ever or there is a common cause.
DANmode 6mo ago
If you’re willing to share: Do you know your EBV/Lyme statuses? History of other infections, and/or flu-like symptoms, low-level or otherwise?
- cjbgkagh 6mo ago
  I’ve had mono but not Lyme. My initial symptoms predated mono and started from infancy - but I’m on the very severe end of the spectrum. Most people don’t get hit with it until their 20s and 30s. I think a lot of similar conditions have hEDS as the predisposition but are triggered differently. Some people need a bigger trigger than others.
sneak 6mo ago
That sounds like a high cholesterol diet. It’s very easy to get heart disease (the #1 killer!) doing that.
- cjbgkagh 6mo ago
  Turns out I have great cholesterol.
- coderc 6mo ago
  There exists evidence that dietary cholesterol and the cholesterol in your blood are unrelated. https://pmc.ncbi.nlm.nih.gov/articles/PMC9143438/ https://pmc.ncbi.nlm.nih.gov/articles/PMC9143438/
  - sneak 6mo ago
    There’s a lot more evidence that they are. Do you think the #1 killer isn’t well-studied? This is something everyone cites when I point out that high-cholesterol diets are unhealthy. I get it, cutting out cholesterol foods isn’t fun. But it’s simply not good for you to eat a high cholesterol diet. It WILL increase your blood cholesterol (go vegan for eight weeks and retest - I’ll bet you any amount of money your blood cholesterol drops) and WILL increase your risk for heart disease.
Aurornis 6mo ago
> hEDS is very very very under-diagnosed Ehlers-Danlos syndrome is severely over-diagnosed right now by providers who are unqualified to diagnose it, a few charlatans who sell incorrect diagnoses as a specialty to serve a demand, and scores of TikTokers who think they understand better than the specialists. > and this one simple fact is sufficient to explain a the prevalence of a whole zoo of seemingly unrelated conditions. This is precisely why it's being over-diagnosed: The internet culture definition of Ehlers-Danlos has become the latest catch-all to explain a host of unrelated symptoms. Patients who are frustrated with a lack of answers stumble upon Facebook groups, Reddit posts, TikTok videos, YouTube talking heads, or other social media outlets where non-medical people explain that Ehlers-Danlos can explain almost any vague symptom you have. This has become a big problem for Ehlers-Danlos specialists because it's getting hard to identify the correct referrals from all of the self-diagnosed patients demanding referrals from their doctors. > There is an incentive to keep hEDS as a 'rare' disease as the US has extra grants for disease in this classification and this has put pressure on diagnostic criteria which was made more strict so fewer people would be diagnosed with it. Sorry, there is no conspiracy to withhold diagnoses from people. Doctors aren't getting together and conspiring to stop patients from getting the right diagnosis so they can collect more grants. This conspiracy doesn't even make sense. Doctors and researchers do not financially benefit from keeping diagnoses down. If they wanted more funding, they would be working hard to get more people diagnosed. More people getting diagnosed means more money flowing in from insurance companies and it becomes a higher priority for grants. Not the other way around! > * The progression of prevalence of hEDS over the years has gone from 1/50K, 1/15k, 1/5k, to 1/500 which is insane. Even the Ehlers-Danlos society, which leans toward the more generous diagnostic criteria, does not claim that hEDS is 1 in 500 [https://www.ehlers-danlos.com/what-is-eds/ https://www.ehlers-danlos.com/what-is-eds/] There are some populations where you can find higher incidence, but 1 in 500 is not true at all.
- cjbgkagh 6mo ago
  I added the HSD to the hEDS and gave my reasons for doing so. The figure for hEDS+HSD (1). I'm not the only person to do this (2). The classification was made more strict in 2017 where only 15% of those previously diagnosed with hEDS maintained that definition with the new criteria (3). So is it 1/3100 to 1/5000 with the new 2017 criteria? Well revert that one change and you get 1/456 to 1/750 which is pretty close to 1/500. And let's not forget it did start at 1/50K so the 1/5K is one order of magnitude and 1/500 is another. So I think the history of being off by at least an order of magnitude in the past is important here. Names of papers: 1. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison. 2. The lack of clinical distinction between the hypermobility type of Ehlers‐Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). 3. Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review I know doctors would rather make out that this is a social phenomena and not gross medical incompetence but the reality is way more people have hEDS than have been diagnosed with it, someone is far more likely to find out they have hEDS from TikTok than they are from a doctor. Doctors are not doing their job.

verisimi 6mo ago

hEDS - Hypermobile Ehlers-Danlos Syndrome, I think. "Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder that causes generalized joint hypermobility, joint instability, and chronic pain." HSD - Hypermobility spectrum disorder. "Hypermobility spectrum disorders are a group of heritable connective tissue disorders where joints are flexible enough to cause problems such as instability and pain."

cjbgkagh 6mo ago
In practice HSD was an evolution away from benign hypermobility so it’s generally considered not to cause issues beyond the physical discomfort. hEDS is considered too rare and to actually diagnose someone with it would mess up their health insurance for a condition doctors don’t believe can be treated. So they avoid diagnosing it which creates prevalence data that feeds back into the initial assumptions. My view of HSD is that it is just a milder hEDS and all the other problems still exist even if most are not detectable. Most people spend their lives being told nothing specific is wrong with them and how are they to know better, after all doesn’t everyone get tired from time to time. Because I’m good at stats I was able to figure out that either I’m the unluckiest person ever or there is a common cause.

DANmode 6mo ago

If you’re willing to share: Do you know your EBV/Lyme statuses? History of other infections, and/or flu-like symptoms, low-level or otherwise?

cjbgkagh 6mo ago
I’ve had mono but not Lyme. My initial symptoms predated mono and started from infancy - but I’m on the very severe end of the spectrum. Most people don’t get hit with it until their 20s and 30s. I think a lot of similar conditions have hEDS as the predisposition but are triggered differently. Some people need a bigger trigger than others.

sneak 6mo ago

That sounds like a high cholesterol diet. It’s very easy to get heart disease (the #1 killer!) doing that.

cjbgkagh 6mo ago
Turns out I have great cholesterol.
coderc 6mo ago
There exists evidence that dietary cholesterol and the cholesterol in your blood are unrelated. https://pmc.ncbi.nlm.nih.gov/articles/PMC9143438/ https://pmc.ncbi.nlm.nih.gov/articles/PMC9143438/
- sneak 6mo ago
  There’s a lot more evidence that they are. Do you think the #1 killer isn’t well-studied? This is something everyone cites when I point out that high-cholesterol diets are unhealthy. I get it, cutting out cholesterol foods isn’t fun. But it’s simply not good for you to eat a high cholesterol diet. It WILL increase your blood cholesterol (go vegan for eight weeks and retest - I’ll bet you any amount of money your blood cholesterol drops) and WILL increase your risk for heart disease.

Aurornis 6mo ago

> hEDS is very very very under-diagnosed Ehlers-Danlos syndrome is severely over-diagnosed right now by providers who are unqualified to diagnose it, a few charlatans who sell incorrect diagnoses as a specialty to serve a demand, and scores of TikTokers who think they understand better than the specialists. > and this one simple fact is sufficient to explain a the prevalence of a whole zoo of seemingly unrelated conditions. This is precisely why it's being over-diagnosed: The internet culture definition of Ehlers-Danlos has become the latest catch-all to explain a host of unrelated symptoms. Patients who are frustrated with a lack of answers stumble upon Facebook groups, Reddit posts, TikTok videos, YouTube talking heads, or other social media outlets where non-medical people explain that Ehlers-Danlos can explain almost any vague symptom you have. This has become a big problem for Ehlers-Danlos specialists because it's getting hard to identify the correct referrals from all of the self-diagnosed patients demanding referrals from their doctors. > There is an incentive to keep hEDS as a 'rare' disease as the US has extra grants for disease in this classification and this has put pressure on diagnostic criteria which was made more strict so fewer people would be diagnosed with it. Sorry, there is no conspiracy to withhold diagnoses from people. Doctors aren't getting together and conspiring to stop patients from getting the right diagnosis so they can collect more grants. This conspiracy doesn't even make sense. Doctors and researchers do not financially benefit from keeping diagnoses down. If they wanted more funding, they would be working hard to get more people diagnosed. More people getting diagnosed means more money flowing in from insurance companies and it becomes a higher priority for grants. Not the other way around! > * The progression of prevalence of hEDS over the years has gone from 1/50K, 1/15k, 1/5k, to 1/500 which is insane. Even the Ehlers-Danlos society, which leans toward the more generous diagnostic criteria, does not claim that hEDS is 1 in 500 [https://www.ehlers-danlos.com/what-is-eds/ https://www.ehlers-danlos.com/what-is-eds/] There are some populations where you can find higher incidence, but 1 in 500 is not true at all.

cjbgkagh 6mo ago
I added the HSD to the hEDS and gave my reasons for doing so. The figure for hEDS+HSD (1). I'm not the only person to do this (2). The classification was made more strict in 2017 where only 15% of those previously diagnosed with hEDS maintained that definition with the new criteria (3). So is it 1/3100 to 1/5000 with the new 2017 criteria? Well revert that one change and you get 1/456 to 1/750 which is pretty close to 1/500. And let's not forget it did start at 1/50K so the 1/5K is one order of magnitude and 1/500 is another. So I think the history of being off by at least an order of magnitude in the past is important here. Names of papers: 1. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison. 2. The lack of clinical distinction between the hypermobility type of Ehlers‐Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). 3. Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review I know doctors would rather make out that this is a social phenomena and not gross medical incompetence but the reality is way more people have hEDS than have been diagnosed with it, someone is far more likely to find out they have hEDS from TikTok than they are from a doctor. Doctors are not doing their job.