Why the current medical system fails those with hEDS

Why the current medical system fails those with hEDS

It has been referred to as the “diagnostic odyssey.” It can often take decades to get a diagnosis, with patients getting many diagnoses prior to an hEDS diagnosis due to the multisystemic involvement. There are many reasons why.

It is not taught in medical school.

This is according to many doctors. It might be mentioned, but they are not taught to look for it because it is considered rare. They are also taught, “If you hear hoofbeats, think horses, not zebras,” which means they should think of the simplest, most common diagnosis before considering more rare and complicated ones.

There is so much specialization in the medical system

You see an orthopedist (different for each joint), and gastrointestinal doctor, a neurologist, a psychiatrist. They do not see the big picture of how all of these systems may be connected into one diagnosis. Connective tissue affects every single system in the body! But they are only looking at their one system or one body part. No one connects the dots.

Misdiagnoses and incomplete diagnoses are common

Many (maybe most) hEDS patients are diagnoses with anxiety, but could it be dysautonomia? When the adrenaline rush happens before any mental thoughts, it really isn’t anxiety, although the body sensation of being in fight-or-flight for no reason is uncomfortable and can lead to anxiety. Being told that “it is all in your head,” is common, and that can also lead to anxiety and depression. Gastrointestinal issues are labeled anorexia (for those who have gastroparesis) or irritable bowel (for those who have chronic diarrhea. These are just examples.

Primary care doctors either are not comfortable diagnosing hEDS or do not know that they can diagnose it

Based on current diagnostic criteria, ANY doctor can diagnose hEDS. Usually it is the geneticist in the US, and rheumatologist in the UK, but you do not have to wait! Any doctor can order the genetic testing to rule out other, rarer types of EDS, and your primary care is probably the best person to know your whole history and evaluate all the diagnostic criteria. I personally do think it is good to get the testing to rule out other types since there is so much overlap in symptoms with other connective tissue disorders, if you can afford it. Technically, the diagnostic criteria require ruling out other causes for symptoms, and I am not sure this is possible without the genetic testing. Some of the other hereditary disorders of connective tissue have particular things to monitor that can be life threatening (like aneurysms with vascular EDS).

Symptoms are attributed to being psychosomatic, or “all in your head”

This is a common experience with hEDS patients. We can’t possibly have all those symptoms in all those different systems.

hEDS was not diagnosed regularly until 1998, and distinct current criteria were not available until 2017

This is a problem because hEDS is considered autosomal dominant (genetic), but generally parents and grandparents were not diagnosed. This is the case for me, and even my mom says, “You can’t have that disorder because none of the relatives were diagnosed.” But if you look back, you can see the pattern. My dad had many issues over time (shoulder, hip, spine), but initially his back symptoms were attributed to “muscle weakness due to polio.” However, if he had strong ligaments, he would not have walked at a 90 degree angle in his later years. Later joint issues were attributed to aging. My grandmother had migraines, and was known to “freak out,” which is what happens with dysautonomia when the body goes into fight-or-flight mode with little provocation.

The medical system fails us. I personally think there should be screening in schools, even though the current diagnostic criteria is intended for adults due to excess flexibility in children. They did scoliosis screening in schools when I was in 6th grade. Why not EDS screening? It is not hard to do Beighton scoring for flexibility, although that can be misleading because it only tests for 5 sets of joints. But it is something! It would at least put it on the radar for the parent to look out for the signs as the children mature. It would also point them in the right direction for the multisystemic symptoms that arise rather than giving them separate diagnoses for each symptom!

Attaching some links below for further information.

Diagnostic criteria for hEDS:

https://www.ehlers-danlos.com/what-is-eds/hypermobile-ehlers-danlos-syndrome-heds/#1677083905021-223e2d3a-6c22

Clinical diagnostic criteria for hEDS - one page checklist:

https://www.ehlers-danlos.com/wp-content/uploads/2017/05/hEDS-Dx-Criteria-checklist-1.pdf

An exploration of the journey to diagnosis of Ehlers-Danlos Syndrome (EDS) for women living in Australia

https://pmc.ncbi.nlm.nih.gov/articles/PMC11271888/

Symptom Overlap in Heritable Connective Tissue Disorders

https://cortneygensemer.substack.com/p/symptom-overlap-in-heritable-connective