Genetics and hEDS

When you suspect that you may have Ehlers Danlos syndrome, your first thought is to go to a geneticist and have them run genetic testing to see if you have a mutation in the COL5A1, COL5A2, or the many other genetic markers that have been found to help diagnose connective tissue disorders. But for those with the hypermobile type of Ehlers Danlos Syndrome (hEDS), it’s a bit more tricky. 

Currently there is no genetic test for hEDS, only clinical evaluations, which can make getting a diagnosis difficult and troublesome for many patients. Since hEDS is a rare disorder, many primary care practitioners are unaware of the signs and may just attribute your pain to growing pains or mental health. This is where the Beighton scale

comes in.

This “controversial” clinical assessment called the Beighton test assesses the hypermobility of joints, and also guides clinicians on other symptoms related to hEDS. The Beighton scale is controversial because it doesn’t take into account the many neurological, gastrointestinal, and metabolic issues that are experienced by hEDS patients. But since there is so little research done into hypermobile Ehlers Danlos syndrome, the Beighton scale just skims the surface on the symptoms that hEDS patients feel.

As much as genetic testing is able to give you the solidification and comfort of knowing what disease you are facing head on, it’s important to remember that that is not an option for those with hEDS. So it is important to know the signs and commonly missed symptoms of hEDS patients so that you can see the proper professional and get the right assessment done to see if you have hEDS. 

This is where Dr. Perretto comes in. As an hEDS patient herself, Dr. P is able to notice and validate patient symptoms that could be related to hEDS — a.k.a the things that were left out of the Beighton scale. These symptoms are pertinent to a diagnosis of hEDS, and the Beighton scale is a good start on the road to a diagnosis. 

The contents of this post are for informational purposes only and do not constitute medical advice. This page is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a physician or other qualified health provider with any questions you may have regarding a medical condition.