Living with Ehlers-Danlos Syndrome, Type III – Hypermobile

Frequently Asked Questions (FAQs)

What is Ehlers-Danlos Syndrome, Type III – Hypermobile (EDS3)?

The short answer is that it is a genetic, connective tissue disorder. Collagen production malfunctions. If you think that just affects the way you look, think again! It affects every system in your body, since collagen is found in 90% of your tissue.

Even though a page long list of specific diagnostic criteria has been established, each patient is unique in their combination and degree of severity in their symptoms. There is no medical or mental cure for EDS3. However, there are temporary treatments for some symptoms which range from mildly loose joints to life-threatening complications.

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What are the symptoms/characteristics of EDS3?

Skin Sags Over Eyes

The most logical impact to laypersons like me is that faulty collagen production impacts our skin. One impact is that our skin is stretchier than other people. That seems rather harmless, doesn’t it? Well, that can be a nuisance (at least) or a serious problem (at most) when the skin of the upper eyelids sag over our eyes and affect our vision. Another impact to the skin is that it is very fragile and bruises easily. Not only do I bruise easily, but I stay bruised, sometimes for years.

The most visible impact of EDS3 is unusual extension of joints. Pinky fingers extend more than 90 degrees. Thumbs touch forearms. Elbows twist upside down. Knees easily rest backwards. Many of those diagnosed with EDS3 can touch their palms to the floor without bending their knees. Healthcare professionals advise that those of us with these abilities refrain from demonstrating these as party tricks. Doing so can actually inflict damage whether it hurts or not.

That’s Swelling, Not Fat

The primary impact of EDS3 is that connective tissue, like tendons and ligaments, are “hypermobile.” They extend further than they should. Imagine that your joints are stabilized by rubber bands that have been overstretched and no longer retain their original shape. My joints will flex past their designated position because my tendons and ligaments do not support them properly. My ankles will bend so far that the soles of my feet will face my calves. They also bend in other directions, such as my feet turning their soles outward away from my body. At that point, my bones break, or it results in severe sprain. The picture at the right was “just” a sprain. This can happen from falling down stairs or simply walking with a foot that fell asleep. Besides the pain of sprains, fractures, surgeries, and lengthy recoveries, people with EDS3 have chronic pain of the muscles or bones. In addition, I have frequent Charlie horses/cramps/muscle spasms of the toes, feet, lower legs, thighs, hips, arms, hands, fingers, and less frequently, my torso or even my throat/neck. You may think Charlie horses are no big deal, and I certainly do not expect to die from one, but when they attack multiple areas at once, they can be debilitating.

In summary, EDS3 (or hEDS) symptoms include:

  • large (knee, elbow) and small (fingers, toes) joints stretching beyond the normal range, which may lead to repeated joint dislocations and subluxations (partial dislocation);
  • soft, smooth, and velvety skin with easy bruising; and
  • chronic pain of the muscles and/or bones.

Although not listed as criteria on the diagnostic worksheet (created in 2017), other symptoms are nationally recognized as common to people with EDS3. Such symptoms include:

  • problems with the autonomic nervous system, responsible for regulating body functions and the fight-or-flight response, such as:
    • tachycardia (rapid heartbeat);
    • chest pain;
    • shortness of breath;
    • temperature intolerance;
    • difficulty swallowing;
    • polydipsia (excessive thirst);
    • urinary symptoms;
    • light-headedness upon changing positions too quickly, specifically standing quickly from a lying down position; and
    • fainting;
  • at least seven different types headaches, which become constant;
  • mitral valve prolapse;
  • organ prolapse;
  • narrow, high palate with teeth overcrowding;
  • hearing loss;
  • piezogenic papules (painful bumps of fat) on the heel when standing;
  • chronic disorders, such as:
    • fatigue;
    • nausea;
    • neck pain; and
    • anxiety;
  • fibromyalgia;
  • insomnia;
  • muscle weakness;
  • severe muscle spasms;
  • early onset osteoarthritis;
  • degenerative joint disease;
  • degenerative disc disease;
  • debilitating pain;
  • craniocervical instability (CCI), sometimes called “bobblehead”;
  • bowel disorders, especially indigestion and irritable bowel syndrome. including constipation and diarrhea; and
  • psychological impairment and mood problems.

Depending on the severity of the patient’s case of EDS3 or their symptom overlap with other types of EDS, organs and blood vessels can be weak and can tear. See Medical Problems for a list of what I have experienced. Surely not everything listed is because of EDS3, but then again who knows?

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What are the other types of EDS?

At the time of this writing, there are 14 recognized types of EDS, but I could only find information on 13. My attempt at summarizing the symptoms of each type of EDS is available here. The hypermobile type is the most common, but EDS3 is still considered a rare disorder.

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Is EDS3 life threatening?

EDS3 is not usually life threatening. However, an individual’s particular symptoms or issues determine whether EDS3 is life threatening in his or her case. Some characteristics can overlap with other types of EDS that have more dangerous aspects. For example, symptoms of vascular EDS can result in blood vessels or organs as large as the intestines tearing or rupturing.

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Where did EDS get its name? (Discovery of EDS)

Ehlers-Danlos Syndrome (EDS) is one of the oldest known causes of bruising and bleeding. Hipprocrates, considered the father of Western medicine, was actually the first person to describe it, doing so in 400 B.C. But EDS bears the names of two dermatologists. The first is Edvard Ehlers, who recognized the condition as a distinct entity in 1901. Seven years later in 1908, dermatologist Henri-Alexandre Danlos suggested that skin’s unusual elasticity and simultaneous frailty were primary characteristics of the condition. Diagnosis is often slow to come, as the individual symptoms are often misdiagnosed or missed entirely. I thought I had gone to every possible specialist and generalist in traditional and alternative medicine. I still was not diagnosed until I was 47 years old! One researcher stated that ‘EDS is the most overlooked disease of all time.’

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Who should you see for treatment if this looks too familiar?

Best wishes on that search! I have seen recommendations for seeing a primary care physician or general practitioner. Ha! I hope that works for you. Other authorities recommend seeing a geneticist. The only geneticists’ offices near me are Dialysis Centers. The truth is: reading this website makes you more likely to find help, because you now know that there is a link between your symptoms. EDS is named for two dermatologists. I was diagnosed by a rheumatologist. Unfortunately, many health care practitioners of every type have never heard of EDS. And, as far as I know, there is no such thing as an EDS Specialist. The reason is that each symptom calls for its own specialist. You should not go to your GI doctor to set a broken bone. So, most symptoms will dictate which specialist you see. For instance, if your symptoms send you to a neurologist, that person should be able to diagnose whether you have EDS and which type you have. You should know that there are such creatures as Pain Management Specialists. However, use them with caution. Actually, I would recommend caution with every specialist. Do not let your treatment take over your life … unless it is an improvement. And your primary care provider does need to know your diagnosis. Send him or her to the internet, if they have never heard of EDS. Oh, and by the way, I have heard of other people with EDS besides me who woke up mid-surgery. So, be sure to tell your anesthesiologist and dentist!

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Why does diagnosis matter?

Diagnosis serves more than just the purpose of validation and being able to prove to others that you really do have a legitimate problem. There are treatments for specific symptoms. And, as mentioned above, some types of EDS have life-threatening symptoms, such as the vascular type. But even if you do not have the vascular type, you could have overlapping symptoms. Also mentioned above is the fact that EDS3 may cause you to wake up during surgery. Therefore, any time you are going under anesthesia or even receiving topical or local anesthesia, your doctor or dentist needs to know!

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What does the colorful zebra mean?

EDS3
EDS Type III – Hypermobile

            I first saw a zebra representing patients with Ehlers-Danlos Syndrome (EDS) on The Ehlers-Danlos Society’s website. At first, I did not pay much attention, but then I began noticing that the zebra was being used at more and more places. Patients were wearing zebra emblems, including t-shirts announcing that they were zebras. So, I went back to The Ehlers-Danlos Society’s website, and this is the explanation they give for their zebra mascot:

“Medical students have been taught for decades that, “When you hear hoofbeats behind you, don’t expect to see a zebra.” In other words, look for the more common and usual, not the surprising, diagnosis.

“But many of us spend years pursuing a diagnosis for disorders that aren’t well known. Or aren’t expected in someone who looks normal, or is too young to have so many problems, or too old. Or even, what we might have is considered too rare for anybody to be diagnosed with it.

“So the zebra became our symbol to mean, “Sometimes when you hear hoofbeats, it really is a zebra.” Ehlers-Danlos syndromes are unexpected because they’re rare. Hypermobile spectrum disorders are common, but are unexpected because they remain misdiagnosed or under-diagnosed.

“When you see a zebra, you know it’s a zebra—but no two zebras have identical stripes just as no two people with an Ehlers-Danlos syndrome or HSD are identical. We have different symptoms, different types, different experiences—and we are all working towards a time when a medical professional immediately recognizes someone with an Ehlers-Danlos syndrome or HSD.”

          When constructing this site, my research revealed so many variances in symptoms that I felt it was important to emphasize the differences in each zebra by assigning each stripe a different color. I invite you to share your stripes with me, whether you are a patient, a caregiver, a healthcare professional, or a researcher. Tell me what you know.

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