[monkburger]

Similarly rare is the "traditional" EDS phenotype with stretchy skin and hypermobile joints. Usually seeing them for shoulder dislocations or other orthopedic injuries.

By far the most common (and massively increased over the past few years) is the crowd that attracts all the eye rolls. These are almost exclusively women, usually white, age 16-35, presenting with a constellation of nonspecific chronic complaints including myalgias/arthralgias, fatigue, GI symptoms, etc. None of them have stretchy skin or abnormally hypermobile joints. Very high rate of fibromyalgia/POTS/CFS in this group. They're usually coming to the ED for diffuse pains, dizziness, or something else I really can't fix. Maybe there is some underlying organic disorder we haven't sorted out yet, maybe these are somatic manifestations of untreated anxiety/depression.

One thing about the hEDS diagnosis is the explosion of self-dx from social media (TikTok) which makes physicians cringe.

There's no good genetic test, and even if there was there is not much to be done other than supportive measures.

[cjbgkagh]

I believe that you're a doctor because your response is exactly typical for a doctor. Have you considered for a second that all these people are right and that you might be wrong? I am similarly self diagnosed. 30 years of not being able to get a diagnosis despite having hypermobility so severe I can subluxate either shoulder on demand, I also had all of those other issues you mention - it's a cluster for a reason.

Hear me out, what if hEDS was 1/50 and not 1/50K or 1/15K or 1/5K or 1/500 or whatever the current literature has it at - which as a data science person is some rather large order of magnitude error bars for a figure. The 1/50 would include those diagnosed with generalized joint hypermobility, this would allow for the more common TNXB SNPs to be causal for hEDS.

And yeah, I've been told by many doctors that it's not worth even testing for because there is no treatment. Also consider the second order effects of not testing - how would you validate the original % numbers if people keep being talked out of getting tested, would subsequent surveys of population include those being talked out of the test? It's a good thing I don't rely on people who can't detect a condition to treat the condition. It is indeed very treatable - the dysautonomia aspect especially so.

[monkburger]

There is clearly an entity of hEDS with a yet-to-be-discovered gene. However, the clinical criteria are not very specific and the diagnosis has been given out both for people who don’t fit the criteria and for people who do but are unlikely to have the originally intended underlying disease process. This is driven by several factors including physicians who aren’t strict about diagnosis, supplement companies that use this to push whatever they are peddling, and patients who want a diagnosis for the sake of having one or other reasons mentioned here.

[cjbgkagh]

There is a sub group of hEDS which are not that flexible, understand that someone like me who is extremely hypermobile could not get a diagnosis in any amount of time and the implication that has for people who are much less hypermobile yet clearly have the cluster of comorbidities of hEDS. The core problem is that doctors simply are not good at statistics, like unbelievably bad at it. It is a an essential component of their job and in my view being so bad at statistics is malpractice. When you’re good at statistics this stuff sticks out like a sore thumb - you can’t miss it.

[monkburger]

Being 'bad statistics is malpractice' is just wrong on so many levels.

Medical malpractice requires a deviation from evidence-based practice that results in harm.. hEDS is diagnosed based on guidelines, not just "obvious statistical patterns.".. If diagnostic criteria exclude certain patients, that reflects the current medical consensus, not physician incompetence. Med schools teach Bayesian reasoning and differential diagnoses, not just pattern matching.

If I incorrectly diagnosed a patient with hEDS without ruling out vascular EDS (vEDS) and the patient suffered an undiagnosed arterial rupture, that would be actual malpractice.

If a subgroup of less hypermobile hEDS patients exists, the solution is research, not accusing physicians of malpractice for following evidence-based guidelines.

[cjbgkagh]

'Medical malpractice' is different to 'malpractice' in general. The first is deviations from standard care the second is a dereliction of duty. I think it is every doctors duty to get good at statistics. Clearly the Bayesian statistics classes have not been sufficient.

If you consider the role of doctors to be finite state automata that execute instructions handed to them from standards bodies then we wouldn't need anything nearly as sophisticated as a LLM to replace them, a collection of decision trees would be sufficient.

Your input on the topic has not dissuaded me from my belief that doctors in general are bad at stats and therefore bad at their jobs.

[monkburger]

I don't care to dissuade you from anything - you are flat-out wrong on things.

In my opinion, hEDS is a real condition, but sick-tok is causing patients to demand from physicians a dx - regardless if they meet the clinical criteria for it or not.

Stick to your lane.

[LeafItAlone]

>It is indeed very treatable - the dysautonomia aspect especially so.

What is the treatment for the condition itself? As far as I can tell, the recommended options treat the symptoms, but not the conditions.

It was suggested that a family member of mine has EDS, but if they do, it’s not acute and there would really be nothing to do. The doctor even suggested getting tested for it, but it would not be covered so they didn’t do it.

[cjbgkagh]

By my math the test for hEDS has a very high false negative rate and it will cause issues with future insurance so not only would I not bother with it I would recommend against it. This is how bad math in medicine flows on to create more bad math.

It's generally not the hypermobility that is the problem, it's all the autoimmune conditions that come with it. Here is a list of the most common ones, https://ohtwist.com/about-eds/comorbidities. The comorbidities often have specific treatments and it helps to know the name of the things when looking for the treatments. The one that I think limits people the most if they have it is the ME/CFS that is very common in people with hEDS. I'm of the opinion that ME/CFS is downstream from dysautonomia. Low Dose Naltrexone should be step one for dysautonomia, after that weak ligands such as modafinil in the morning and amitriptyline at night - these medications seem compliment each other rather nicely. Modafinil can cause gut issues though so if that's already a problem modafinil can make things worse. A very strict zero sugar diet as well, dopamine dysregulation can cause strong sugar cravings which does make this rather difficult. I think semaglutide will likely be shown to be effective for auto-immune conditions and is probably the best medication I've taken for mine - but I am extremely sensitive to it and had to start at 1/20th the normal starting dose and still had pretty bad side effects. I'm basically 100% except that I have to still be careful with PEM - I'm in the process of building up a tolerance to PEM with the hope to eventually fix it. For the actual hypermobility I think weightlifting is the most effective. I was getting Craniocervical instability for a while and did a year long course of hGH peptides and Test Cypionate and that seemed to resolve it - but I have a severe form of hEDS and was worried about it putting me in a wheelchair. I was willing to take some risks to avoid that.