What Is Ehlers-Danlos Syndrome?

Ehlers-Danlos Syndrome (EDS) is a genetic disorder of connective cells that can influence the body in different ways. EDS is normally defined by joint hypermobility (think of joints that are extremely flexible and move in a much greater range than normal), joint instability, dislocations (when there is a split on the surface areas of a joint), and scoliosis. While there are other symptoms like joint deformities, skin hyperextensibility, and abnormal scarring that present in people with EDS, this article will focus on Hypermobile Ehlers-Danlos Syndrome (hEDS).

hEDS is the hypermobility type of EDS and is believed to be the most common. Unfortunately, there is not much research to tell us precisely just how frequently it occurs. But it can be inherited from a mom and dad that carry the same gene. Alternatively, someone can be born with a brand-new anomaly, meaning that the problem is happening in their household for the first time.

Part of the reason it’s so frustrating for people with EDS to get answers is that there is no simple test for EDS. For example, your doctor can’t just take your blood and send it to a lab. To diagnose it, a doctor needs to look for joint hypermobility, indicators of malfunctioning connective tissue throughout the body (e.g. skin attributes, hernias, prolapses), a family history of the condition, and bone and joint problems. There are numerous linked signs and symptoms but they can also be the results of something else (not necessarily EDS), which makes it all the more difficult to identify. A geneticist must often be consulted to confirm a diagnosis of EDS. 

This is why so many people don’t actually meet the diagnostic standards for hEDS… even though their hypermobility creates a lot of issues like pain and discomfort. 

You may experience discomfort and dislocations, be prone to injury, have curvature of the spine, and have degenerative joint and bone disease. People with these symptoms may have many signs that point to EDS, however, they don’t meet the “criteria” to be diagnosed with EDS. This is why it can often take so long to actually get a diagnosis. A primary doctor may not know what exactly is going on because the tests come back “normal.” You may then go to several other specialists before finally being told you have EDS.

Joint hypermobility is currently identified on a spectrum. At one end is simple hypermobility, which doesn’t have any signs or symptoms. And at the other end is hEDS. If you have something in between, that’s called Hypermobility Spectrum Disorder (HSD).

If you have HSD or hEDS, the treatment and recommendations are usually very similar or the same. 

Sometimes, a “provisional medical diagnosis” of EDS is made. This can happen if you meet some of the requirements but don’t have access to a geneticist who can confirm. In this case, if your doctor or physical therapist thinks you have EDS, they may recommend specific types of treatment that will help you with your symptoms before you can confirm the diagnosis. Many people will often start feeling better with physical therapy before getting the “official” EDS diagnosis. 

Please keep in mind everyone’s experience with EDS is different. EDS can present with so many different symptoms, and the treatment path will usually vary depending on your specific case. It is crucial to avoid any doctor, or EDS physical therapist that has a one size fits all approach when it comes to treatment. 

What are the symptoms and signs of Ehlers-Danlos Syndrome?

Pain and exhaustion are practically universal for people who have EDS. But remember, that is usually coupled with hypermobile joint and skin issues. For Joints, this can include: 

Joint pain and deformity; muscle pain and nerve pain; loose/unstable joints; muscle stress; weakness of the throat; pelvic floor weakness; and nerve conditions (neuropathy).

Symptoms with the Skin can include:

Soft velvety-like skin; variable skin hyper-extensibility; breakable skin that tears or bruises easily; serious scarring; slow or incomplete wound healing.

What causes Ehlers-Danlos Syndrome?

Connective tissue is everywhere… It supports bones, ligaments, tendons, blood vessles, and even holds your stomach and GI tract in place. 

There are many proteins that make up connective tissue. In the Ehlers-Danlos Syndrome, there are faults in the genes that establish just how the body makes collagen and other healthy proteins that work alongside it. 

Since the genetic cause for hypermobile EDS (hEDS) is still unidentified, an hEDS medical diagnosis hinges on how your symptoms stack up against the EDS criteria. PLUS, what your physician or physical therapist discovers throughout your examination. 

You shouldn’t ever underestimate the importance of the examination—people are so much more than what a test or symptom can reveal. We see patients all the time with “normal” test results, but with extreme pain levels.

Just how common is Ehlers-Danlos Syndrome?

The general prevalence of Ehlers-Danlos Syndrome is between 1 in 3,500 to 1 in 5,000 people. The hypermobile variant (hEDS) is without a doubt the most typical kind. It may actually be a lot more common than the numbers above suggest because it is commonly missed or misdiagnosed. 

What about Hypermobility Spectrum Disorder (HSD)?

HSD can occur in about 1 in 500 to 1 in 600 people. This is based upon a vast population study of medical records. Just like EDS, HSD might be more common than that, as it may be missed or misdiagnosed.

“I Think I Might Have EDS, What Do I Do?”

We get this question a lot. If you believe you could have EDS or HSD, the first step is to ask your doctor or physical therapist if the medical diagnosis fits your symptoms. Typically a doctor will review your joints, skin, and any other parts of the body where you have symptoms. Because EDS is a genetic condition, your family history may also hold valuable information.

Doing a thorough check is very important. We see many patients that come to physical therapy for the treatment of their pain… Then during the evaluation, we uncover deeper or hidden issues that someone else missed. Physical Therapy for Ehlers-Danlos Syndrome can make a huge difference in your pain and activity levels.

Once your doctor thinks you may have EDS after evaluating you, there’s a good change you’ll be referred to a geneticist. A geneticist can help confirm the diagnosis.

If you’ve already gotten a diagnosis, you can click here to learn more about getting specific help with EDS.

A diagnosis is also important because it gives you certainty as to what’s actually wrong. Even though EDS has “no cure”, it is treatable, and you can live a fantastic life. Don’t let anyone convince you otherwise! It’s all about having the right medical team that recognizes that you have EDS and gives you treatment options that align with your goals. 

“What Happens If I Do Have Hypermobile EDS?”

One of the most important things you can do is find a physical therapist (as well as a team of doctors) that you trust. You need someone who listens and understand what you’re going through. Someone who can then create a plan that will help get you out of pain or discomfort and enjoying life again!  

If you’re in pain now and haven’t found an Ehlers-Danlos Syndrome physical therapy clinic that you like and trust, please get in touch! It’s important not to hold off. Some people’s issues get worse with time. For example, joint pain and instability can cause more pain the longer it’s left untreated (or not properly treated). 

What can I do now?

Please click the link below to request a Free Discovery Session. This is a chance for you to speak one-on-one with our EDS Physical Therapist and see if Project Physical Therapy is the right fit for you. There is no obligation to book anything. Our goal is to give you options and help you make the right decision so that you can get rid of pain and get back to doing what you love!