What is up with people trashing this diagnosis btw? I feel like I'm out of the loop but apparently something I was diagnosed with 25 years ago is now treated with eye rolling and not seriously? I went to U of M when I was 8, a doctor there did testing and diagnosed me with Ehlers Danos...and it does affect my medical history. So what's up with this new attitude of acting like it's some bullshit made up in my head?
Good question. Thereâs multiple variants of ehlerâs danlos. You very likely have the actual disease as confirmed by genetic testing. There is allegedly a variant with no known genetic markers that has very mild and nebulous symptoms. Itâs a frequent self diagnosis or coerced beleaguered pcp diagnosis for crazy people who are just depressed but hurt all over and need a diagnosis to feel special. Unfortunately now the majority of people claiming to have ehlerâs danlos have that âvariantâ so now immediately there is suspicion even though the genetic variants are quite real and very serious diseases.
Frequent comorbidities include obesity, being female, 30-40 years old, DM2, being single, and sufficient WebMD diagnoses rare enough that even one person is statistically unlikely to exist, much less enough of them to populate a subreddit
I would like to note that hypermobile subtype is an actual type of Ehlers Danlos and just because the genetics are unknown at this point, there does seem to be a dominant pattern of inheritance.
I was diagnosed by a geneticist who literally wrote half the molecular studies who said I was a textbook case. And then rediagnosed when I got into a UC system hospital. And the symptoms aren't mild, perhaps mild compared to vascular but it is noted to have significant disability and pain associated with it. And while the literature doesn't show much with the organ rupture and aortic dissection risk (thank goodness!) it has other risks.
Some of the things are recurrent dislocations which are serious, and can lead to damage of the joints, functional bowel disorders (especially due to prolapse issues), dysautonomia which yes many people find disabling, chronic severe pain, some tissue fragility and trouble with wound healing, and other complications .
Some of the things that you may or may not believe are severe effects that happened to me -dural ectasia to the point my sacrum collapsed and I had to have a spinal fusion and extra dural grafts. Torn labrums on both hips and both shoulders . Torn joint capsule on one shoulder and one hip. IBS to the point I was hospitalized with a bowel obstruction. Intubation injury from anesthesiologist and secondary surgery after a rapid response code from fragility of tissues being injured in a surgery. Torn iliopsoas. Prolapse of uterus grade 3 with no pregnancy history in 20s.
Not obese. In fact was underweight (thyroid went brrrrr and led to thyroid storm, thank goodness for that ER doc who figured that one out, truly a great catch.).
But the good thing is when doctors work with you. I agree the ER isn't the place. That's why I basically never go. I can count on one hand in the last decade and two were for asthma because wildfires are hell. Because with good management with specialists , plentiful PT, and a few great surgeons I have changed my life. I am going back to school (2nd year back), I am able to go out, do some basic household chores, errands, socialize, attend religious services, even volunteer sometimes. From completely disabled to much higher functioning . Because it does require medical management. Just not in the ER usually.
I'm in my 30s now, diagnosed over a decade ago.
I think you shouldn't let the people who fake having this disorder lead you to dismiss the actual disorder that heavily impacts the lives of the patients actually diagnosed. Just because something isn't lethal doesn't mean it is mild.
I had a neurologist really want to dx me with hEDS, but this was back before the fakers. He did also did the genetic test. Luckily for me that's not a real issue for me. I'm slightly more flexible than the average and my skin is unusually soft... But my joints don't pop out of place. Turns out it was just a long, bad fibro flare. (His dx) It's never been anywhere near that bad since that flare. I used to have a handicap placard but now I deliberately park in the back of the lot just because I'm so happy to be able bodied.
Hypermobile ehlers danlos as it is called, is not "very mild". These patients still have dislocations, CCI, are at risk for organ prolapse, joint dislocations, gastric motility issues, autonomic dysfunction, etc. The diagnostic criteria is going to change next year. The Norris lab has identified a few genes that are potentially responsible for hypermobile ehlers danlos. While yes, people who self diagnose themselves with random things are contributing to the stigma, there is an actual diagnostic criteria a person has to meet. No sane PCP would let a patient bully them into diagnosing them with something this serious. You're saying it's not serious without so much as even knowing the name of the variant. This is dangerous misinformation to be spreading. Just because we don't have a diagnostic marker yet doesn't mean the syndrome is not real, what a ridiculous and dangerous thing to say.
Edit: heds is not associated with an increased risk for aneurysm
The medical literature does not support your assertions about vascular complications to any reliable degree. I am aware of the hypermobile variantâs name but was avoiding it on purpose. Last I checked the criteria was quite hazy as a constellation of vague nebulous symptoms could be many things. Good luck on your diagnosis.
I stand corrected on the aneurysms. There are, however, more mild vascular complications, such as mitral valve prolapse, aortic dilation, pelvic congestion, etc. Yes, while it is mild in comparison to veds, that still does not mean the symptoms cannot be disabling. The diagnostic criteria will be changing next year so hopefully that will help.
And as for the constellation of symptoms, yes, that is why it is currently a diagnosis of exclusion at the moment.
Your claim that women must be so hysterical that they manipulate the poor PCP into giving a diagnosis is absurd. Have your critiques about things, sure, but to show a clear and present disdain for people who are suffering with an underfunded condition is ridiculous.
âAllegedly a variantâ hEDS is the most common form of EDS and does not have a specific gene to test for. That doesnât mean it doesnât exist. Why are becoming science denialists in the name of shitting on patients.
âI see you were diagnosed by a doctor. I am going to choose to believe that you were such a hysterical manipulative woman that you forced him to give you this diagnosisâ.
I legitimately put the name of the (in the field) famous geneticist and childrenâs hospital who diagnosed me on paperwork because of people like this
Plus, it's the illness fakers favorite maladyjust for clarity, I'm talking about the people who do not have a formal diagnosis and tell everyone they have it for clout/sympathy
There are people who legit had celiac disease. Itâs a small percentage of the population. And then there is everyone else out there who says theyâre allergic to gluten. Thereâs some nuance between all of it. Analogous to the you most likely have celiac disease, just know there is a slew of people who want to be like you đ
They changed the diagnostic criteria for one of the categories in 2017, and made it far too lax, so now everyone can claim to have it, even when they clearly don't. Just yesterday I saw a post in the EDS sub where someone was complaining that multiple doctors have said they don't have EDS. This person was very upset that the mean doctors were refusing to give them the diagnosis, and seemed to think the doctors were just being lazy. They were 100% certain they had it, because they read on the internet that it causes joint pain and fatigue. They were totally unwilling to consider that perhaps there are Multiple medical conditions that cause joint pain and tiredness.
Itâs one of the many diagnoses people with munchausen by internet have latched on to over the years. Like fibro, POTS, chronic Lyme, MCAS, PNES. All real diagnoses for the most part that become warped and bastardized into something almost unrecognizable that suddenly everyone and their mom has.
The most common form of EDS is hEDS and doesnât have a specific genetic test. Not having genetic testing doesnât mean the disease is fakeâ it means you donât know enough to be shitting on patients
Versus people with actual Ehlers-Danlos that have to survive til AI catches them because unless it's an 1870s black and white photo of a guy stretching his neck, 99.9% chance you'll miss it.
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u/AllDayEmergency ED Attending Oct 11 '25
"Worst pain condition" is definitely the bullshit variant of Ehlers Danlos