Chances are, if you’ve heard of “dysautonomia,” it’s in relation to the buzz surrounding the recently identified post-COVID-19 syndrome. However, dysautonomia is not new. Patients with Ehlers-Danlos syndromes (EDS) have long suffered from this elusive comorbidity, contributing to some of its most disabling symptoms. You may not know it, but it’s likely that you have at least one “difficult” patient in your practice right now who has undiagnosed EDS. Unfortunately, due to lack of awareness, and a clinical presentation of a constellation of seemingly unrelated multi-system symptoms, the average time it takes for a patient to be properly diagnosed is 10 to 12 years. My name is Julie Griffis, and I am in the unique position of being both an EDS patient and a physical therapist. Unfortunately, even as a health care professional, it took over 20 years to be diagnosed. May is EDS Awareness Month, and I’d like to share my story to better help you recognize these frequently missed conditions in your patients.
I wasn’t aware of it at the time, but I have spent my entire adult life telling my doctors that I was experiencing the debilitating symptoms of EDS and dysautonomia. As a patient, it has been frustrating trying to find answers, but as a health care practitioner, I understand how difficult it is to connect these seemingly unrelated symptoms. Despite seeing a myriad of specialists, the reason for my dwindling health remained a mystery. In September, at the urging of my physical therapist, I saw yet another doctor. I was hesitant. Years of ineffective treatments and being told there was “nothing wrong” with me had left me with little hope. After listening to my complaints, this new doctor asked me to do some movements with my body, and then she said, “did anyone ever tell you that you might have hypermobile Ehlers-Danlos syndrome?” I admitted that it had never been considered, but I had learned about the classic and severe form of EDS in school, and that didn’t seem to match my clinical presentation. She explained that in 2017, the diagnostic criteria for EDS was revised, and there are now thirteen distinct subtypes, the most common of which being hypermobile type or hEDS. She asked me to do some research so we could discuss it during our next visit.
I went to the Ehler-Danlos Society website, and I learned that Ehlers-Danlos syndromes are categorized as heritable disorders of connective tissue, which are generally characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The true prevalence of hEDS is unknown, although recent estimates translate to 10 million affected in the U.S. alone. In all of these heritable disorders, genetic mutations cause the body to produce faulty connective tissue. Connective tissue is the “glue” that holds the body together and is imperative for the proper functioning of all systems. With “weak glue,” the body becomes a minefield of problems.
As I learned more, I felt like I had finally found the missing piece to my complicated puzzle. I am hypermobile in many of my joints, meaning my ligaments and tendons are too loose, which leads to frequent joint subluxations, and explained why my joints were always cracking, popping, and getting “stuck.” Because my joints are unstable, the muscles surrounding them need to work much harder to provide stability resulting in myofascial pain, muscle spasms, and trigger points.
The symptoms of EDS aren’t limited to the musculoskeletal system and commonly affect everything from hearing and vision to integumentary issues such as prolonged wound healing and easy bruising. It also became apparent that the specialists I had seen had contributed valuable information to the overall puzzle but were simply not able to put it all together. I had accrued an impressive list of diagnoses commonly associated with EDS: migraine, gum disease, anxiety, fibromyalgia, chronic fatigue, restless leg syndrome, sleep disorder, lumbar spondylolisthesis, sacroiliac dysfunction, hiatal hernia, hearing loss, and early-onset osteoarthritis. EDS explained everything right down to the bumps on the sides of my heels called piezogenic papules and my velvety soft, delicate skin. One physician explained how she makes sense of this constellation of multi-system symptoms by using the phrase: “If you can’t connect the issues, think of connective tissues.” Finally, it all made sense.
As I continued my research, I began seeing information about dysautonomia. It is defined as a complex group of neurologic conditions caused by abnormalities in how the autonomic nervous system (ANS) functions. Dysautonomia produces a wide variety of symptoms that range from mild to severely debilitating and can even be life-threatening. According to The Dysautonomia Project, the seven most common symptoms of dysautonomia are difficulty standing still, fatigue, lightheadedness, nausea and GI symptoms, brain fog, heart palpitations, and shortness of breath.
As you can see, many of these symptoms are broadly non-specific, and individually, can be very common in the general population. Specific types of dysautonomia are known to be associated with EDS, such as postural orthostatic tachycardia syndrome (POTS), which explained my complaints of tachycardia with prolonged standing, heart palpitations, presyncope, extreme fatigue, and heat intolerance. One article found that the significant symptom burden of dysautonomia in EDS patients results in a reduced quality of life similar to patients diagnosed with congestive heart failure or chronic obstructive pulmonary disease.
Although there is no cure, accurate, early diagnosis is imperative for maximizing patient outcomes and minimizing life-long disability in this population. Once an accurate diagnosis is made, many effective treatment options are often best managed by a multidisciplinary team approach by referring these patients to neurologists, cardiologists, physical therapists, and other practitioners specializing in EDS. The sad fact is that EDS and dysautonomia are extremely debilitating disorders that many physicians simply aren’t looking for. My hope is that the next time you encounter a patient who may be suffering from mysterious, multi-system symptoms of a seemingly unknown cause, you can remember the phrase: “If you can’t connect the issues, think of connective tissues” and include EDS in your differential diagnosis.
Julie Griffis is a physical therapist. Linda Bluestein is an integrative medicine physician.
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