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 are 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 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 joints 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.