Finally, Some Answers: What New hEDS Genetic Research Means for You
- Maya Illipse
- Oct 13
- 5 min read
If you have hypermobile Ehlers-Danlos syndrome (hEDS), you've probably asked yourself a thousand times: Why is this happening to me? And more importantly: Why does it affect so many different parts of my body?
For years, we haven't had a good answer. Unlike other forms of EDS, hEDS didn't have a clear genetic culprit that doctors could test for. New research is beginning to change how we understand what's happening; though it's important to be clear about what has actually changed, and what hasn't.
How Common Is hEDS, Really?
Before diving into the genetics, here's something worth knowing: you're not alone, and you're not imagining this. Recent estimates suggest hEDS and related hypermobility disorders may affect as many as 1 in 500 people worldwide. That's millions of people. Yet many still face diagnostic delays averaging up to two decades, bouncing between specialists and hearing "it's all in your head" along the way. This research validates what you've known: hEDS is real, it's common, and it's genuinely complex.
What Just Happened in the Research World
Scientists in the US and France completed the first large-scale genetic study of hEDS, analyzing DNA from almost 2,000 people with hEDS and comparing it to 5,000 people without the condition. What they found is both exciting and important: hEDS isn't caused by a single gene going wrong. Instead, it involves multiple genes working together in ways we're only beginning to understand.
Two main genetic regions stood out as significantly linked to hEDS risk. But here's what matters most: the story these genes tell us reframes how doctors should be thinking about hEDS as a condition.
Important: Your Diagnosis Hasn't Changed
Before going further, let's be clear about something: this research does not mean hEDS can now be diagnosed with a genetic test. hEDS is still diagnosed clinically—through your symptoms, medical history, and how your body responds to physical examination. This new genetic research doesn't change that, at least not yet. If you've already been diagnosed with hEDS, this research confirms the biological reality behind what you're experiencing, but it doesn't change how diagnosis works.
The Two Key Discoveries
First: The ACKR3 Gene and Your Nervous System
One of the strongest genetic signals points to a gene called ACKR3. This gene influences how your immune system and nervous system communicate; particularly around pain signaling and how your body responds to stress, infections, or trauma.
This is genuinely important. It means that hEDS isn't just about loose connective tissue. There's a real neurological and immune component happening too. That exhaustion you feel after a flare-up? That pain that seems to come from nowhere? The brain fog? These aren't side effects or separate problems; they're connected to how your nervous system is wired at a genetic level.
The research suggests that for some people, variants in this gene create a situation where your body's pain-sensing and immune systems work a little differently than in people without hEDS. Here's the practical implication: your symptoms may genuinely worsen after infections, hormonal changes, or high-stress periods because your system is responding to these triggers in a particular way. This isn't weakness or deconditioning; it's biology. Understanding this can help you and your healthcare team develop strategies that account for these patterns.
Second: Zinc Transport and Connective Tissue
The second major discovery involves a gene called SLC39A13, which manages how zinc moves through your cells. Zinc is crucial for building and maintaining connective tissue.
Here's an important distinction: rare, severe forms of EDS are caused when someone inherits two broken copies of this gene; one from each parent. That results in serious connective tissue breakdown. With hEDS, people typically inherit common genetic variants of this gene that most of the general population also carries. The difference is subtle, but it means hEDS involves a different type of genetic involvement than those rare severe forms. It's not that your genes are "broken"; it's that certain common variations may influence how your body handles zinc and connective tissue maintenance in ways that, combined with other factors, contribute to hEDS.
This finding is still early, but it hints at potential future avenues for research; though it's important not to jump to supplementation or other interventions without more evidence. Talk to your doctor before making changes based on this alone.
What This Really Means: It's a "Whole System" Disorder
Perhaps the most important takeaway from this research is something that probably won't surprise you: hEDS isn't just a connective tissue problem.
The genetic research confirms what many patients and movement therapists have observed: hEDS involves your nervous system, your immune system, your digestive system, and your connective tissue all working together in complicated ways. The study found strong genetic connections between hEDS and several comorbidities that you might experience:
Chronic fatigue and ME/CFS (affecting up to 30% of hEDS patients)
Fibromyalgia (read our blog about it here)
Migraine (reported by 50-68% of patients)
Depression (reported by 51-63% of patients)
Irritable bowel syndrome and other gastrointestinal issues (affecting over 80% of patients) (you can find more information about EDS & gut health here)
A note on anxiety: Interestingly, the research found a weaker genetic connection between hEDS and anxiety than many people might expect, even though 64-76% of hEDS patients report experiencing anxiety. This doesn't mean your anxiety isn't real or important; it likely means anxiety in hEDS may develop through different pathways (possibly environmental or related to living with chronic illness) rather than the same genetic mechanisms driving other comorbidities. Your anxiety deserves treatment and support either way.
These comorbidities aren't coincidence. They're not separate diagnoses to collect. They're different expressions of how your particular genetic makeup interacts with your environment, stress levels, physical demands, and life circumstances.
Why This Matters for How You're Treated
For years, many hEDS patients have felt fragmented by the healthcare system—seeing a rheumatologist for joints, a gastroenterologist for digestion, a neurologist for migraines, a psychiatrist for mood, and somehow, no one seeing the whole person. You end up managing five different conditions when really, you're managing one complex condition with multiple expressions.
This research provides scientific evidence that there is a coherent whole to see. Your symptoms aren't random. They're connected through shared genetic and biological pathways.
This understanding should ideally shift how healthcare providers approach hEDS; moving away from treating isolated symptoms and toward recognizing hEDS as a multi-systemic condition. That's why integrated approaches make biological sense:
Movement therapy and physical rehabilitation address both your connective tissue needs and your nervous system regulation
Nervous system work such as gentle breathing practices, graded exposure to activity, or somatic approaches, directly supports the neuroimmune component the genetics reveal. (Please refer to our other related blogs for more in depth understanding of Breath in the Hypermobile System, Nervous System Dysregulation, Polyvagal Theory)
Stress management and mental health support aren't "extras"; they're part of treating the core condition, since stress and emotional regulation directly influence your immune and nervous system responses
Coordinated medical care across specialists who understand these connections prevents you from being sent conflicting advice
It's not that these approaches are suddenly new—many practitioners have intuitively understood this. But now the genetics provide a framework explaining why these integrated approaches work.
The Bigger Picture
Genetic research like this takes time to transform into clinical practice. Typically, it takes 5-10 years or more for genetic discoveries to lead to new treatments. But it's moving in an important direction: toward recognizing hEDS as what it really is; a complex, multi-systemic condition affecting your nervous system, immune system, connective tissue, and more.
For now, what matters most is that you continue listening to your body, working with practitioners who understand the multi-systemic nature of hEDS, and knowing that your experience of hEDS as affecting everything from your energy to your digestion to your mood to your pain is backed by real, legitimate biology.
You're not imagining the connections. The science is finally catching up.
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