If you’ve lived with this for years, you probably know the pattern. A sprained wrist here, a racing heart there, a stomach that won’t settle, and a different specialist for each one. Nobody put the pieces on the same table.
We don’t treat the genetics of hEDS, and we won’t claim to. What we can do is tell you plainly what’s known, what isn’t, and what a nervous-system view can and can’t add to the joint care you may already have.
What is hypermobile Ehlers-Danlos syndrome?
hEDS is a connective tissue condition. Its core feature is generalized joint hypermobility, which means joints throughout the body move farther than they should, according to EhlersDanlos.org.
The other EDS types are mostly rare. The NHS notes that most of the 13 types are rare, and that the shared signs include extra joint movement, stretchy skin and fragile skin that bruises easily. With hEDS, the skin is usually not the main problem. If skin fragility is present, clinicians look at other types.
The cause is not fully known. hEDS runs in families in a dominant pattern, but EhlersDanlos.org reports that its gene has not been found. A 2025 report linked a change in the KLK15 gene to hEDS in some families, so the picture is still being drawn.
How is hEDS diagnosed?
A clinician diagnoses it from your history and an exam against a checklist published in 2017. There’s no shortcut. EhlersDanlos.org states that no genetic test, blood test or scan can confirm hEDS.
The checklist has three parts, laid out by Genetics Education Canada.
| Criterion | What the clinician looks for |
|---|---|
| 1. Generalized joint hypermobility | A Beighton score of 5 of 9 or more in adults, 6 of 9 or more in children before puberty, and 4 of 9 or more in adults over 50 |
| 2. Signs of a connective tissue disorder | Two or more, such as a positive family history, recurrent joint dislocations or soft, velvety skin |
| 3. No skin fragility, and no other explanation | Other conditions such as lupus or Marfan syndrome have been considered and set aside |
Many conditions can mimic hEDS, so part of the diagnosis is ruling things out. If you meet the first criterion but not the second, you may be told you have hypermobility spectrum disorder (HSD). The American Academy of Family Physicians explains that the 2017 classification introduced HSD for people who don’t meet the hEDS criteria.
HSD isn’t a lesser diagnosis in terms of how you feel. Genetics Education Canada notes that hEDS has additional screening recommendations, so it’s important to tell the two apart. For a plain walk through what the label means, see our piece on what a hypermobility diagnosis actually means.
How common is hEDS, and why does it take so long to get named?
Nobody knows the exact number. EhlersDanlos.org gives estimates from about 1 in 5,000 to 1 in 20,000 people. It also points to a large Welsh study in which about 1 in 500 people had a diagnosis of either EDS or joint hypermobility syndrome.
The gap between those numbers is part of your story. If many people haven’t been told yet, then many doctors haven’t looked for it. The same source says people with hEDS often wait ten years or more for the right name, and are given about ten other diagnoses along the way.
That wait does damage of its own. You’ve been told it’s stress, or growing pains, or that your tests are normal. Of course they’re normal. No routine test measures hEDS. Your symptoms are real, and they make sense once someone looks at the whole picture instead of one joint at a time.
Joint hypermobility on its own is common. The NHS says it affects around 1 in 30 people.
Why do dizziness, pain and flares show up with hEDS?
Because the joints are rarely the only system involved. People with hEDS often describe lightheadedness on standing, a racing heart, stomach trouble, fatigue, and reactions to foods or heat that seem to come from nowhere. Dysautonomia (a problem with the autonomic nervous system, which runs heart rate, blood pressure, digestion and temperature) is one name for part of this. Mast cell activation syndrome (MCAS) is another label some people are given.
At Spero, we see people with hypermobile and vascular EDS, and we’ve found that for some EDS symptoms to show up, dysautonomia has to be present. That’s our clinical observation, not a trial result, and it’s worth holding it that way.
There’s early research pointing in the same direction. A genome-wide study posted to medRxiv compared 1,815 people with hEDS to 5,008 controls. Its authors found a variant region near the ACKR3 gene that they say implicates neuroimmune and pain signaling pathways. It’s a preprint, which means it hasn’t completed peer review, and it describes risk patterns in groups, not a reason any one person is sick.
Connective tissue, the nervous system and the immune system seem to interact in hEDS. How much each one contributes differs from person to person, and nobody can yet measure that for you with a single test.
I often tell my patients, “The body never lies, but it does whisper before it screams.” Picture a house where the lights flicker, a breaker trips and a fan runs on its own. You could tighten every loose fitting and still have the flicker, because the wiring behind the walls is part of the picture too.
What does a nervous-system view add beyond joint care?
It adds a second set of questions. Joint care asks how to protect the joints you have. A nervous-system view asks why your body is producing pain, dizziness and fatigue at the volume it is, and whether the systems that regulate those things can work better.
Joint care still matters, and we aren’t suggesting you drop it. The American Academy of Family Physicians reports that early multidisciplinary treatment, including physical, occupational and cognitive behavior therapy, orthotics, and community and specialty support, may improve outcomes in people with joint hypermobility symptoms. A good physical therapist who understands hypermobility is worth a lot.
| Question | Joint-focused care | Nervous-system view |
|---|---|---|
| What’s the target? | Stability, strength, protecting joints | Regulation of the autonomic and central nervous system |
| What gets tracked? | Dislocations, range of motion, pain at a joint | Heart rate and blood pressure response, pain pattern, fatigue, digestion, sleep |
| Where does dysautonomia fit? | Often handled separately, by another specialist | Treated as part of the same picture |
| What does it change about the genetics? | Nothing | Nothing |
Nothing in our program changes your genes, and we don’t claim to cure or reverse EDS. The program is designed to support how your nervous system regulates itself, alongside the medical care you already need. Our EDS page describes how that works, and our article on seeing EDS through the nervous system goes deeper on the idea.
It’s also a big commitment, and we’d rather say so now. The program is intensive and in person in Fayetteville, Arkansas. Insurance usually doesn’t cover it, and most people travel to attend. If you can’t manage the time away or the cost, or if you need a guaranteed outcome before you start, it won’t be the right fit, and we’ll tell you that on a call.
What are the common mistakes with hEDS?
Waiting for a test to settle it is the most common. People hold off on getting help because they want certainty, and for hEDS the certainty comes from a clinician’s exam, not a lab. Ask for someone who knows the 2017 criteria, and bring your family history.
Treating every symptom as a separate problem comes next. When the cardiologist, the gastroenterologist and the orthopedist never compare notes, you end up the only person holding the whole story. Write it down in one place. A single timeline often shows a pattern no individual visit could.
A diagnosis also isn’t a ceiling. Hypermobility spectrum disorder and hEDS are both managed with ongoing care, and EhlersDanlos.org says symptoms respond to good care. That’s a statement about management, not about your genes changing.
Some people hear “nervous system” and assume their joints, or their need for medical evaluation, no longer matter. They still do. Chest pain, fainting and sudden severe symptoms need a doctor, and a nervous-system program isn’t a replacement for emergency or medical care.
And if a medication or a therapy didn’t help, that tells us something about the approach, not about you.
FAQ
What are four symptoms of Ehlers-Danlos syndrome?
The NHS lists an increased range of joint movement, stretchy skin, and fragile skin that breaks or bruises easily. With hEDS, EhlersDanlos.org adds joints that feel unstable. Symptoms differ a lot by type and by person.
What are the signs of hypermobility?
The clearest clinical sign is a Beighton score, a nine-point test of how far certain joints bend. Adults score positive at 5 or more, according to Genetics Education Canada. Frequent dislocations and unstable-feeling joints also point toward it.
What is mild hypermobility?
It’s joints that move farther than average without causing problems. The NHS says joint hypermobility affects around 1 in 30 people. Many never have symptoms. It becomes a condition only when pain, instability or other features appear and meet diagnostic criteria.
Has the gene for hEDS been found?
Not for most people. EhlersDanlos.org says the gene has not been found even after serious searching, though a 2025 study linked a KLK15 change to hEDS in some families. That’s why diagnosis still rests on a clinical checklist.
One thing to do today
Open a note on your phone and write down every symptom you can think of, from joints to heart rate to digestion, with the year each one started. Bring it to your next appointment so one clinician sees the whole timeline.
If you’d like a second set of ears, we’d like to hear your story. Schedule a free discovery call, and we’ll listen to the full picture and tell you honestly whether Spero is a fit. However long the list is, hope is still within your reach.
For more on what sits beside the joints, read Ehlers-Danlos syndrome symptoms beyond the joints and how we handle dysautonomia.
