Why is EDS Rarely Diagnosed?

Ehlers-Danlos Syndrome (EDS) is diagnosed in around one out of every 2,500 – 5,000 individuals, according to Ehlers-Danlos National Foundation. However, those estimates are significantly lower than the number of actual EDS cases.

So, why the discrepancy?

EDS is often undiagnosed because it presents itself in a variety of ways, often mimicking other conditions.  Who would automatically assume your skin condition, your dislocated knee, and your heart problems all come from the same disease? The symptoms associated with EDS may appear unrelated, but they all lead back to one commonality—a genetic defect in connective tissue.  And, sadly, too many health care professionals are not trained to recognize EDS.

People living with EDS may also go years without receiving the proper diagnosis, often being told their multiple “unrelated” symptoms are “all in their head.”   Chronic pain may be treated by one doctor, vascular problems by another, and gum disease treated by another, so the patient accumulates a number of doctors who are treating the symptoms without ever recognizing the one over-arching condition.

Teenagers, at the age when symptoms can become more prevalent, may experience symptoms that appear to simply be “growing pains” as described by Cincinnati Children’s Hospital.  Many people spend their lives with moderate to debilitating joint discomfort, accepting what they now assume are “normal” skin abnormalities, or living with other symptoms of EDS, not realizing the connection or receiving a diagnosis.

Receiving an EDS diagnosis can be described as “connecting the dots” and, in many cases, is seen as a positive step. Although there is no cure for EDS, knowing what is causing their symptoms can help patients move forward. Many people living with EDS, both diagnosed and prior to diagnosis, experience the feeling that others truly do not understand, or often believe, that what the EDS patient is going through is real. This is the challenge of this “invisible” disease.

Learn more about EDS and EDS symptoms for you or someone you love. Always consult an experienced medical professional if the symptoms sound familiar.