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 autonomic dysfunction 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

Click Here to Download this Blog Post – The Long Road to Answers: Why You Were Misdiagnosed for Years (Part 15)

By Dr. Nicholas L. DePace, M..D., F.A.C.C – Cardiologist specializing in autonomic dysfunction, Ehlers-Danlos syndrome and POTS.

If you are reading this and finally have a diagnosis of hEDS or HSD, you might feel a mix of relief and anger.

For many patients, the diagnosis comes decades too late. You may have struggled through grade school, high school, and your career feeling like you were fighting a losing battle against your own body. You dealt with pain, extreme fatigue, brain fog, and joints that slipped out of place (subluxations)—all while being told you were “fine.”

The “It’s All in Your Head” Trap

The most common story in the EDS community is the patient who sees a dozen different doctors and is eventually labeled with “Anxiety” or a “Functional Disorder.”

Why does this happen? It’s not necessarily because the doctors are bad; it’s because the disease is a master of disguise.

The “Too Many Symptoms” Problem Medicine is often divided into specialties. You see a urologist for bladder issues, a gastroenterologist for stomach pain, a neurologist for headaches, and an optometrist for eye trouble.

• The eye doctor looks at your eyes and sees nothing wrong structurally.
• The stomach doctor does a scope and sees nothing wrong structurally.

Because these doctors often don’t talk to each other, nobody sees the big picture. They see a patient with a laundry list of complaints that don’t seem connected. When a doctor can’t find a physical cause for so many different problems, they often conclude the problem must be psychiatric.

Connecting the Dots

The reality is that these “unrelated” symptoms are actually all the same problem. Your connective tissue is everywhere—in your eyes, your gut, your bladder, and your nerves. When the tissue is faulty, everything malfunctions.

The Chicken or the Egg?

It is true that many hEDS/HSD patients suffer from anxiety and depression. However, it is crucial to understand the order of events:

• The Misconception: You are in pain and tired because you are anxious or depressed.
• The Reality: You are anxious and depressed because you are in chronic pain, your body is unreliable, and you haven’t been believed for years.

The mental health struggles are secondary. They are a natural human reaction to living with a debilitating, undiagnosed illness. You aren’t crazy—you’ve just been trying to survive without the right manual for your body.

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 autonomic dysfunction 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

Click Here to Download this Blog Post – The Overactive Guard Dog: Understanding Mast Cell Activation Syndrome (MCAS) (Part 14)

By Dr. Nicholas L. DePace, M..D., F.A.C.C – Cardiologist specializing in autonomic dysfunction, Ehlers-Danlos syndrome and POTS.

• If you have hEDS or HSD, you might feel like you are allergic to the world. You aren’t just imagining it. Many people with connective tissue disorders also battle an immune system issue called Mast Cell Activation Syndrome (MCAS).What are Mast Cells?Think of mast cells as your body’s “guard dogs.” They live in almost every tissue and protect you from invaders like bacteria and viruses. When they spot a threat, the Sympathetic Nervous System (the gas pedal) tells them to attack by releasing chemicals like histamine.

  When the Guard Dog Goes Rogue

  In a healthy body, the Parasympathetic Nervous System (the brake pedal) keeps these cells calm. But because hEDS/HSD causes these nerves to glitch, the “brake” fails.

  The result? Your mast cells become confused. They start barking and biting at things that aren’t dangerous—like foods, smells, or temperature changes. This overreaction is MCAS.

  The Symptoms

  Because mast cells are everywhere, the symptoms can happen anywhere. It’s not just sneezing; it often looks like:

  • Skin:Hives, flushing, itching.
  • Gut:Nausea, vomiting, diarrhea (often misdiagnosed as IBS).
  • Heart:Racing heart, low blood pressure, fainting.
  • Lungs:Wheezing or throat tightness.
  • Brain:Brain fog and headaches.

  How is it Diagnosed?

  Doctors look for the “Rule of Three”:

  1. Clinical Signs:Symptoms in two or more body systems (e.g., skin and stomach).
  2. Lab Tests:High levels of specific chemicals (like Tryptase or histamine) in blood or urine. Note: You might also be tested for a genetic trait called HaT (Hereditary Alpha-Tryptasemia), which is common in EDS patients.
  3. Response to Treatment:You feel better when taking mast cell medications.

  The “Two-Door” Treatment Strategy

  Treating MCAS isn’t just about taking an allergy pill. Histamine has different ways of entering your cells, like different doors. To stop the reaction, you often need to lock both doors:

  • Block Door 1 (H1 Blockers):Common allergy meds like Zyrtec or Xyzal.
  • Block Door 2 (H2 Blockers):Meds often used for acid reflux, like Pepcid.

  If you only block one, the body just uses the other door, and you don’t get relief.

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 autonomic dysfunction 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

Click Here to Download this Blog Post – The “Why” Behind The Pain (Part 13)

By Dr. Nicholas L. DePace, M..D., F.A.C.C – Cardiologist specializing in autonomic dysfunction, Ehlers-Danlos syndrome and POTS.

Many people spend years—sometimes decades—bouncing between doctors, trying to explain two persistent problems: constant dizziness and chronic pain.

If you have been diagnosed with hEDS (Hypermobile Ehlers-Danlos Syndrome) or HSD (Hypermobility Spectrum Disorder), these aren’t just random bad luck. There is a specific chain of command causing your symptoms, and understanding it is the first step to managing it.

The Chain Reaction: From Tissue to Nerves to Pain

It is helpful to think of your condition as a domino effect. Here is how the medical literature explains the sequence:

1. The Root Cause: You have hEDS or HSD. This means your connective tissue (the glue holding your body together) is built differently.
2. The Middleman: Because your tissue is “stretchy” or loose, it interferes with your P&S (Parasympathetic and Sympathetic) Nerves. As we discussed in the previous post, this causes your body’s “autopilot” to glitch.
3. The Symptom: This nerve dysfunction leads to Orthostatic Dysfunction (dizziness and fainting when standing). Crucially, these nerve glitches also amplify pain. The pain isn’t just in your joints; your nervous system is turning the volume knob up, making everything hurt more.

What Doctors Should See: The Physical Clues

When a doctor looks at your history and performs a physical exam, they shouldn’t just be looking at your heart rate. They should be looking at you.

In patients with these disorders, the body tells a story through four main physical signs:

• Super-Stretchy Skin (Hyperextensibility): Your skin might pull away from your body much further than the average person’s, almost like elastic.
• Over-Flexible Joints (Hypermobility): You can bend your fingers, elbows, or knees past the “normal” stopping point.
• Fragile Tissue: Your skin might tear easily or heal poorly.
• Easy Bruising: You might find mysterious bruises without remembering how you got them, because the blood vessels under the skin are fragile.

A Critical Warning: The “Vascular” Variety

While hEDS is the most common form, there is a rarer, more dangerous cousin called Vascular EDS (vEDS).

The medical community often misses this diagnosis until it is too late—usually after a major, life-threatening event. Because vEDS affects the blood vessels and organs directly, it requires different attention.

The Red Flags for Vascular EDS If you or a family member have a history of the following, especially if it happened before age 40, it is vital to check for vEDS:

• Organ Rupture: A history of intestines or other organs tearing or rupturing unexpectedly.
• Aneurysms: Bulges in blood vessels.
• Major Bleeding: Bleeding that is difficult to stop or happens spontaneously.

The Takeaway: If you have easy bruising combined with a family history of sudden organ trouble or aneurysms at a young age, do not wait. This specific history is the loudest alarm bell for doctors to investigate Vascular EDS immediately.

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 autonomic dysfunction 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