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#heds#conditions#more#diagnosed#medical#ehlers#danlos#don#hsd#getting

Discussion (56 Comments)Read Original on HackerNews

nkoren•about 4 hours ago
On the off-chance that psychosomatic suggestibility is on this list, I'm not even looking at it.
Aurornis•about 1 hour ago
Good intuition. This document isn’t real medical research from medical professionals. It’s from a group of people soliciting donations and trying to sell neurodiversity trainings for organizations.

This comes from a part of social media where medical conditions are redefined in ways that make them sound more broad, generic, vague, and common than they really are. This is why this corner of the internet diagnoses themselves with many of these conditions together: The definitions they believe are like horoscopes where anyone who has non-specific symptoms or even psychosomatic conditions can match the definitions given. The result is groups of people on TikTok or Facebook groups who all think they have a list of 5 different medical conditions and who are all frustrated that actual specialists for those conditions won’t agree with their self diagnoses.

oytis•about 3 hours ago
What's the context for that, I don't get it
estimator7292•about 2 hours ago
Hypochondria is really common among autistic people. To the point that it's an in-joke and meme among the community.
majorchord•about 2 hours ago
A most logical and rational reaction.
wizzwizz4•about 3 hours ago
Psychosomatic suggestibility is not on the list. These are also all chronic conditions, so if the descriptions don't match your history, you have nothing to worry about.
Aurornis•about 1 hour ago
Unfortunately this document and the linked YouTube videos uses the social media definitions of these conditions, so readers could be misled into thinking they have conditions which they don’t.

The article is really bad. I do not suggest anyone take it seriously.

cjbgkagh•about 3 hours ago
Though statistically if you’ve previously been told you have something psychosomatic the odds are pretty good that you have something on this list.
virtualritz•about 4 hours ago
This is a stark reminder why you use LaTex or typst with a good template for typesetting your scientific contributions.

Unless you learned basic typography that is.

This eyesore looks like it was done in Word & Co.

What a pity, given what a treasure trove this is.

As someone with a partner who has ADHD I think this should be mandatory reading for any GP.

Aurornis•about 2 hours ago
> for typesetting your scientific contributions.

This is not a scientific contribution. It's basically a pamphlet for a group of people selling "neurodiversity trainings" for organizations.

cjbgkagh•about 4 hours ago
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.

Aurornis•about 2 hours 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/]

There are some populations where you can find higher incidence, but 1 in 500 is not true at all.

cjbgkagh•about 2 hours 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.

Aurornis•about 2 hours 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).

Sorry, but you’re just sharing bad information.

The prevalence of hEDS is not 1:500 by any reasonable source.

I know I won’t convince you because your posts have many layers of information sourced from the alternative medicine world of TikTok and TikTok-adjacent sickfluencers, but I hope I can at least convince other people reading this to pursue higher quality sources and be skeptical of HN commenters who make claims about under-diagnosis based on conspiracy theories.

sneak•about 2 hours ago
That sounds like a high cholesterol diet. It’s very easy to get heart disease (the #1 killer!) doing that.
coderc•about 2 hours ago
There exists evidence that dietary cholesterol and the cholesterol in your blood are unrelated.

https://pmc.ncbi.nlm.nih.gov/articles/PMC9143438/

cjbgkagh•about 2 hours ago
Turns out I have great cholesterol.
DANmode•about 3 hours 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•about 3 hours 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.

verisimi•about 3 hours 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•about 3 hours 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.

Aurornis•about 2 hours ago
If this PDF isn't triggering your skepticism, you need to adjust your sensitivity for pseudoscience. It's a PDF put together by an organization that sells "neurodiversity trainings for organizations". They try to lend legitimacy by linking to papers describing conditions, but their claim that these are all a "cluster" just goes to a YouTube video of their own webinar where they discuss their "lived experiences" as the basis for their claims.

The document mixes science with pseudoscience. It was put together by someone who subscribes to the current social media trends that blend together real diagnoses in a way that have been distorted and stretched to become generic catch-all explanations for vague conditions

This mess where conditions like MCAS, hEDS, POTS, and ADHD are all swirled together into a cluster of co-diagnoses is becoming a huge problem on social media. Even the individual groups for these conditions are become sick of the trend of pushing them all as co-diagnosis. One example from the ME/CFS forums sampling the frustration with how people incorrectly self-diagnosing with all of these conditions as a cluster is becoming a problem for each individual condition: https://www.s4me.info/threads/problems-arising-for-pwme-from...

This should be flagged away as it's both misinformation and a document serving as a lead gen for their training services based on misinformation (see the link at the bottom of the document)

GoodOldNe•about 2 hours ago
This is Sick-Tok's greatest hits. I am a former special education teacher and current emergency medicine physician and have tremendous compassion for those who are truly dealing with life-limiting conditions like ASD and real EDS (the kind that causes aortic dissections among other very serious kinds of pathology). I simultaneously have compassion for those who are suffering physically and psychically and who want an explanation and a label and for some reason find their way towards wanting to identify as chronically ill / disabled.

It's a tough thing but from what I have seen, pursuing the diagnoses on this list makes life worse for the vast majority of people who choose to do so. There is a rapidly expanding cottage industry of charlatans who will diagnose and treat these things, and others who post about them online and feed the cycle. I'll admit spectrum bias, since I see the ones who come to the ER with concern about these issues and they skew hard in a certain direction but this is overall not a good thing.

SummSolutions•about 4 hours ago
Extremely important information. Other connective tissue disorders can also present with these findings.
latein•about 3 hours ago
Hypermobility can lead to Osteoarthritis in later life also.
FrustratedMonky•about 5 hours ago
"This resource is intended as an introductory primer for primary care clinicians"

Anybody have a more non-medical-background summary?

giantg2•about 4 hours ago
I would have loved a more readable format at least. It's lumping groups of issues together and it's hard to track specific conditions to their source paper and other details.
Aurornis•about 1 hour ago
This document would never be taken seriously by any good medical professional.

The website it’s hosted on is trying to sell neurodiversity trainings to businesses. They link to YouTube videos of their webinars when they cite their “lived experiences” as their background credentials.

This is really bad information. I suggest not getting involved in this side of medical misinformation that springs primarily from parts of social media but is being dressed up as if it’s just a helpful medical resource.

bcjdjsndon•about 4 hours ago
It's part of the current of poor quality research around autism and ADHD, often conflating them into unique condition Audhd.
Lowgain•about 4 hours ago
I think AuDHD is meant to describe having both Autism and ADHD, not conflating them into a single condition
permalac•about 4 hours ago
That is correct.
bluefirebrand•about 4 hours ago
I've been learning a lot about this sort of thing. I was diagnosed with ADHD in 2020 or so, and just the past August was also diagnosed with celiac. It seems that there's some pretty strong correlation between the two.
olyjohn•about 3 hours ago
I was noticing the other day how my pollen allergies would subside when I took some Adderall, and would come back when it wore off. I looked it up and there are actually correlations between allergies and ADHD. I'm not sure if Celiac is the same kind of allergy or not, but I thought it was interesting.
Aurornis•about 1 hour ago
> I was noticing the other day how my pollen allergies would subside when I took some Adderall, and would come back when it wore off.

The explanation is much more simple: Adderall is amphetamine, which has functional overlap with how pseudoephedrine (aka Sudafed) works. They are both norepinephrine releasing agents.

Pseudoephedrine is considered a substituted amphetamine in chemistry lingo.

Rekindle8090•about 3 hours ago
I think this has nothing to do with commonality and more to do with the fact everyone I know who is autistic (I work in tech) has been obsessively getting themselves diagnosed with things since they were like 14 like its a religion. Just has a new thing wrong with them weekly
DANmode•about 3 hours ago
Everything looks like a conspiracy|hypochondria, when you understand nothing.
estimator7292•about 2 hours ago
When people constantly dismiss and mock you like this, treat you like you're the problem, it creates a deep need to find an explanation and justification.

You should try harder to treat autistic people like people, instead of mocking and dismissing things you can't be bothered to try understanding. Comorbidity is a very real thing. Autistic people do have high incidence of comorbid conditions. Your narrow view of the world does not represent universal truth. Hypochondria is common among autistic people, because they commonly have real issues. When everyone refuses to take you seriously, you have to find your own answers. You're the problem here, bud.

analog8374•about 4 hours ago
Autism and ADHD are a (deep) habit of the attention.

A habit of moving the attention in a way that is possibly unhealthy, unuseful and probably discordant to what's common and normal.

One solution is to change that habit with drugs or therapy.

Another solution is to gain a greater understanding of your attention. Thus gaining a new freedom to move your attention in whatever way, rather than suffering the governance of habit.

The meditation people (Buddhists etc) study attention. They have some impressive methods and such. It's worth looking.

grzracz•about 3 hours ago
Calling autism and ADHD "habits of attention" severely understates what's going on. These are neurodevelopmental conditions with substantial genetic and neurobiological components, not patterns someone can think their way out of. That framing has done real damage to people who delayed treatment because they believed they just needed more discipline or insight. Meditation can be a useful complement for some people, but it's not an alternative to addressing the underlying neurochemistry. By saying so you are hurting real people with real problems.
analog8374•about 3 hours ago
I don't think it understates it. I think that reality is basically made of habit. Habit is a bigger deal than you think.
bigbuppo•about 2 hours ago
Habit is just cognitive behavioral therapy.
lazyasciiart•about 3 hours ago
Ok now explain why some toddlers have such extreme “habits of attention” that they can’t interact with other people safely, and how meditation will help them.
analog8374•about 2 hours ago
The benefits would be the same.

As for the actual method of meditation, for a toddler? Well that's tricky.

I imagine that you'd have to turn it into a toy or a game.

Interesting question.

IncreasePosts•about 3 hours ago
What do meditation people do with their great powers of attention? Besides for naval gazing of course.
saulpw•about 2 hours ago
Insight under concentration is a mechanism for durable neural rewiring.

Ever notice how some people don't get 'stuck' in their negative habits and brain loops? Like they can just let them go. If they get feedback from the world they can take it seriously and act on it, instead of digging in their heels and getting resentful. Being able to do this reliably and under stress in the wide variety of life circumstances, and getting closer and closer to doing it in real-time, is the goal.

nemo1618•about 2 hours ago
Sufficiently-developed concentration gives you access to the jhanas, which are extremely blissful states of consciousness. Having reliable access to high valence reduces your need to seek pleasure in less wholesome things (drugs, food, twitter, etc.)

Sufficiently-developed attention gives you insight into how your brain is constructing what you perceive as reality, leading to a reduction in ego, permanent reduction in baseline suffering, and a pervading sense of unity with the rest of the universe.

asveikau•about 3 hours ago
I think it can help you relax. A lot of meditation involves focus on breathing, can keep your heart rate down, etc., and I think that may be good for general health.

But I don't think it should be confounded with medical advice or treated as causal to neurodiversity or called mandatory. Probably why that person is getting downvoted.

DANmode•about 3 hours ago
What do all the jungle civilizations and any possible intelligent extraterrestrial life do?

Stay away from us to their own benefit, of course.

analog8374•about 3 hours ago
They study it, thus gaining a better understanding of it.

They become more familiar with it, thus replacing habit with intelligence.

This leads to increased power and freedom, among other things.

estimator7292•about 2 hours ago
You should study autism and the people around you instead of your own navel. Clearly you don't at all understand what it is to be autistic or ADHD.

Have you ever tried talking to an autistic person?

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