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The Elusive Genetic Hunt: What’s Behind Hypermobile Ehlers-Danlos Syndrome?

Ah, hypermobile Ehlers-Danlos Syndrome (hEDS)—the medical world’s equivalent of a shapeshifter. One moment, it’s wreaking havoc on your joints; the next, it’s ghosting your genetic tests like an ex who refuses to commit.

Unlike other EDS subtypes that conveniently announce themselves with genetic mutations, hEDS prefers to play a long, frustrating game of hide and seek. It’s inherited in an autosomal dominant pattern (translation: if one of your parents has it, your odds of getting a winning ticket in the Chronic Pain Lottery skyrocket), yet scientists still haven’t pinned down which genes are responsible.

But fear not, fellow bendy humans and intrigued onlookers! Let’s dive into what we know, why the genetics are still playing hard to get, and where research is heading.

Grab a cuppa—let’s untangle this slippery strand of science.


What Makes hEDS So Special (or Infuriating)?

hEDS isn’t just about being the most impressive person in a yoga class or casually touching your thumb to your forearm while your friends recoil in horror. If that were the case, Cirque du Soleil would be one giant diagnostic center.

No, hEDS is a systemic connective tissue disorder that affects:

Joints (hyperflexibility, dislocations, early arthritis) Skin (soft, fragile, easy bruising) Nervous system (dysautonomia, chronic pain, fatigue) Gastrointestinal tract (gastroparesis, IBS, reflux)

And if that wasn’t enough, it doesn’t even have the decency to show up in genetic tests.

The Mystery: Unlike its EDS siblings—like vascular EDS (caused by mutations in the COL3A1 gene) or classical EDS (linked to COL5A1 and COL5A2)—hEDS is still genetically anonymous.

It’s the medical equivalent of a ghost—real enough to haunt you, but impossible to track down.


The Beighton Score: Are You Too Bendable?

Since there’s no genetic test for hEDS, doctors rely on clinical markers, and one of the most famous is the Beighton Score—a quick, 9-point system to measure hypermobility.

The test includes:

  • Bending forward and placing palms flat on the floor (If you do this effortlessly, congratulations! You’re either hypermobile or really into Pilates.)

  • Hyperextending your elbows, knees, or pinky fingers past normal range,Touching your thumb to your forearm (a party trick or a diagnosis tool? You decide.)

  • Scoring 5/9 or higher? That’s a red flag for hypermobility.


The catch?

  • Flexibility decreases with age (because even hEDS has limits), so older adults may no longer meet the Beighton Score threshold.

  • Hypermobile joints are only part of the diagnostic puzzle—hEDS also affects skin, circulation, digestion, and the nervous system.


Skin Deep: Other Clues Beyond Flexibility

While hEDS doesn’t turn your skin into elastic, it does leave behind some subtle calling cards:

Velvety soft skin (good for skincare commercials, bad for wound healing).Easy bruising (because capillaries are about as sturdy as wet tissue paper). Piezogenic papules (tiny herniations in the heels when standing, because why not add foot weirdness to the mix?).

But none of these are definitive. They’re like breadcrumbs on the trail to diagnosis, not a smoking gun.


The Million-Dollar Question: Where’s the hEDS Gene?

If hEDS is genetic, then why can’t scientists find the gene responsible?

Well, the short answer is: It’s complicated.

But the long answer is incredibly fascinating—because researchers are getting closer than ever.


Current Research & Potential Genetic Links

The HEDGE Study (Hypermobile Ehlers-Danlos Genetic Evaluation)

  • An international effort analyzing over 1,000 whole-genome sequences from diagnosed hEDS patients.

  • Expected results? 2025.

  • If successful, this could finally give us a genetic test for hEDS.

  • KLK15 Gene: A Possible Breakthrough?

  • Researchers found a potential link to the KLK15 gene, which produces a protein called kallikrein-15.

  • While not yet confirmed as THE cause, it’s a promising lead.

  • Blood-Based Biomarkers: A New Diagnostic Tool?

  • A 52 kDa fibronectin fragment was detected in every tested individual with hEDS or Hypermobility Spectrum Disorder (HSD).

  • Translation? If genes remain elusive, blood tests might be the next best thing.

Why Does This Matter?

  • Without a genetic marker, hEDS diagnosis is purely clinical (which leaves room for misdiagnosis and medical gaslighting).

A confirmed genetic test would mean:

  • Faster diagnoses

  • Less dismissal from doctors (goodbye, “It’s all in your head”)

  • Better research for targeted treatments


So… What Now?

We’re closer than ever to identifying the genetic roots of hEDS, but science takes time (a fact that is deeply annoying when your joints are dislocating on a daily basis).


Until then, what can you do?

Educate yourself—Stay up to date with research from The Ehlers-Danlos Society and HEDGE Study Updates. Push for diagnosis—Keep symptom records, research criteria, and advocate for yourself in medical appointments. Find your community—Online support groups and advocacy networks can help you navigate the chaos.

And remember: The lack of a genetic marker doesn’t make your experience any less real.


Final Thoughts: hEDS, Science, and the Waiting Game

Hypermobile Ehlers-Danlos Syndrome may be a medical enigma, but it’s one that researchers are determined to solve.

Until then, we’ll keep raising awareness, supporting each other, and laughing at the absurdity of medical mysteries.

Because if we can’t get a straightforward diagnosis, at least we can get some good memes out of it.

🦓 Stay bendy, stay strong, and remember—you’re not alone in this.

Sources & Further Reading:

 
 
 

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