I’m thrilled to see how well-received the Rare Disease Spotlight segment has been! It’s a reminder that many people are searching for answers to unexplained symptoms. Today, we’re diving into a condition that’s often overlooked or misunderstood: Ehlers-Danlos Syndrome (EDS).
If you’ve ever felt like your body is working against you, or you’ve dealt with hypermobility, chronic pain, or mysterious injuries, this post is for you. Let’s unravel the mystery behind EDS.
Ehlers-Danlos Syndrome (EDS) is a group of inherited connective tissue disorders. Connective tissue is essentially your body’s scaffolding—it holds everything together, from skin to joints to blood vessels. In EDS, the genetic blueprint for this scaffolding is flawed, leading to weakened tissue.
Imagine trying to build a house with rubbery nails. That’s what life with EDS can feel like.
Living with EDS can feel like your body has its own set of rules, and not the kind you can easily predict. Symptoms vary depending on the subtype (there are 13 recognized types!), but the most common form, hypermobile EDS (hEDS), has hallmark features like:
Other symptoms can include:
EDS arises from genetic mutations affecting collagen—the protein that provides structure and strength to connective tissues. Without strong collagen, tissues become too elastic, like a loose rubber band.
While the prevalence of EDS varies by subtype, hypermobile EDS is thought to affect at least 1 in 5,000 people. Unfortunately, it’s frequently misdiagnosed—or missed entirely—because symptoms overlap with other conditions like fibromyalgia, chronic fatigue syndrome, or anxiety disorders.
People with EDS often feel like they’re “falling apart,” but the condition has nothing to do with mental toughness. Studies show that the pain and joint instability associated with EDS are as real as they come.
And here’s a surprising fact: Many people with EDS can unknowingly pass a “party trick” gene to their kids—such as the ability to touch their thumb to their wrist or bend their fingers backward. What might seem like a fun trick can be a sign of hypermobility.
Diagnosing EDS often requires a multidisciplinary approach. Since there’s no single test for hypermobile EDS, doctors rely on:
If you suspect EDS, seek out a rheumatologist or geneticist experienced in connective tissue disorders.
While there’s no cure for EDS, management focuses on minimizing symptoms and preventing complications. Here are some key strategies:
Compression garments can improve blood circulation, especially if symptoms like dizziness or fainting overlap with conditions like POTS.
Check out the post on POTS syndrome!
https://oncallmedicine.com/pots-syndrome-rare-disease-spotlight/
This Rare Disease Spotlight: EDS isn’t just about “being flexible” or “bruising easily.” It’s a complex condition that can impact every aspect of daily life. Yet with the right management strategies and support, many people with EDS can find relief and live full, meaningful lives.
If any of this sounds like you—or someone you know—advocating for a diagnosis is the first step toward regaining control. You deserve answers, and with persistence, they’re out there.
“EDS can be a tricky condition to diagnose, especially because its symptoms often mimic other, more common disorders. One fascinating tidbit? People with EDS may also experience something called proprioceptive dysfunction—essentially, their body struggles to sense where their joints are in space, leading to clumsiness or frequent injuries. If this resonates with you, don’t hesitate to bring it up with your doctor—it could be a key piece of the puzzle. Remember, understanding your body is the first step toward managing it.”
Disclaimer:
The information provided in this blog is for educational and informational purposes only. It is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of content found on this blog.
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