Click Here to Download this Blog Post – Ancient History, Modern Mystery: What Exactly IS Ehlers-Danlos Syndrome? (Part 16)
By Dr. Nicholas L. DePace, M..D., F.A.C.C – Cardiologist specializing in autonomic dysfunction, Ehlers-Danlos syndrome and POTS.
If you have Ehlers-Danlos Syndrome (EDS), you might feel like a medical mystery. But believe it or not, doctors have known about “excess mobility” since the days of Hippocrates in 400 BC.
The condition was officially named around 1900 by two dermatologists, Dr. Ehlers and Dr. Danlos. However, it was largely forgotten by modern medicine until 1960, when a doctor at Johns Hopkins brought it back into the spotlight.
Today, we know much more. Here is the breakdown of what is actually happening in your body and why it feels like so many people are suddenly talking about it.
The “Soft Skeleton”: What Goes Wrong?
The common denominator in all EDS and HSD (Hypermobility Spectrum Disorder) cases is Collagen.
Think of collagen as the “glue” that holds your body together. It is the main ingredient in your skin, muscles, ligaments, blood vessels, and heart valves. Experts call it the body’s “soft skeleton.” It supports everything that has shape.
In EDS/HSD patients, this glue is faulty. It’s too stretchy or too fragile. Because this glue is everywhere, the symptoms are everywhere—from loose joints to fragile skin.
Is It Actually Rare?
If you read a medical textbook, it might say EDS is “rare,” affecting about 1 in 5,000 people. Clinical experience suggests otherwise.
When you combine hEDS (the hypermobile type) with HSD (Hypermobility Spectrum Disorder), experts estimate the number is actually closer to 1 in 100 or 1 in 200 people. It is likely not “rare”—just rarely diagnosed correctly.
How Do Doctors Spot It?
To diagnose you, doctors often use a physical test called the Beighton Score. This checks how flexible you are.
- The Score: A score of 5 out of 9 usually indicates generalized hypermobility.
- The Age Factor: If you are older, you might not score as high because joints naturally stiffen with age. A good doctor knows this and looks at your history, not just your current flexibility.
Beyond flexibility, they look for:
- Tissue Fragility: Do you bruise like a peach? Do you scar easily or “weirdly”?
- Joint Issues: Do you have chronic pain or joints that partially pop out (subluxation)?
The “Red Flag”: Vascular EDS
While there are 13 types of EDS, one requires special attention: Vascular EDS (vEDS).
This type is rare and dangerous because it affects the blood vessels and organs, leading to a shorter life expectancy. It is crucial for doctors to rule this out, especially if you have a family history of vascular events (like aneurysms) before age 50.
Note: Doctors also need to rule out other similar conditions, like Marfan Syndrome or autoimmune diseases like Lupus, to make sure they have the right diagnosis.
“But Nobody Else in My Family Has It…”
This is a common confusion. While hEDS is often passed down from parent to child (what doctors call “autosomal dominant”), you don’t need a family history to have it.
About 50% of patients have a “de novo” mutation. This simply means the genetic change started with you. You didn’t inherit it, but you could pass it on.
Where to Seek Expert Care?
It is important to seek out a clinician with expertise in EDS to make an accurate diagnosis and create a treatment plan. One of the nation’s leading centers is Franklin Cardiovascular Associates, under the direction of Nicholas DePace, MD, FACC. They are located in Sicklerville, New Jersey. franklincardiovascular.com, (856) 589-6034
About the Author
Nicholas L. DePace, MD, FACC is a board-certified cardiologist and Medical Director of Franklin Cardiovascular Associates. A graduate of the Mount Sinai School of Medicine, Dr. DePace has decades of clinical, academic, and research experience and has held faculty appointments as a Clinical Professor of Medicine, becoming one of the youngest full professors in Philadelphia at the time of his appointment.
Dr. DePace specializes in the diagnosis and treatment of autonomic nervous system dysfunction (dysautonomia), including POTS, autonomic dysfunction associated with Ehlers-Danlos syndrome (EDS), chronic fatigue, and anxiety-like conditions that are frequently misdiagnosed. He is nationally recognized for his work on parasympathetic and sympathetic (P&S) nervous system imbalance, a core mechanism underlying many complex chronic disorders.
In addition to treating patients from across the United States, Dr. DePace is a prolific clinical researcher and author of multiple nationally distributed medical textbooks published by Springer and W.W. Norton, focusing on autonomic dysfunction, mitochondrial disorders, cardiovascular disease, and mind–body medicine.
👉 View Dr. DePace’s professional profile
👉 View medical books by Dr. DePace