Introduction to Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders (HSD) in Our Practices

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I am late to educate myself on this topic and want to acknowledge the patients/clients and providers who have been advocating for increased awareness on this topic.

I wrote the bulk of this post before the 2024 presidential election. Now, more than ever we have to strengthen our communities of care within our healthcare community. Increasing awareness on this topic is part of that work.

One of my colleagues, Dani Allen, LMT, has compiled this amazing resource page to support us in developing our collective knowledgebase around this topic. Their referencing EDS/HDS in a recent class inspired this post. I encourage everyone to visit Dani’s page and follow your curiosity. None of us have to learn everything all at once, it’s not possible. But if all of us learn a little, a little at a time then, over time, the entire field will know more and be able to help people more.

 

What are EDS and HDS in simple-ish terms?

EDS and HSD are diseases affecting the connective tissues. They are thought to be genetic in origin. They are spectrum disorders and so symptom pictures are highly variable.

The Ehlers-Danlos Society offers this definition of EDS: The Ehlers-Danlos syndromes (EDS) are a group of 13 heritable connective tissue disorders. The conditions are caused by genetic changes that affect connective tissue. Each type of EDS has its own set of features with distinct diagnostic criteria. Some features are seen across all types of EDS, including joint hypermobility, skin hyperextensibility, and tissue fragility.

Hypermobility Spectrum Disorders can co-occur with EDS or present on their own. There is often overlap in symptoms between the two and differentiating between them can be challenging.

The Ehlers-Danlos Society offers this definition of HSD: Hypermobility spectrum disorders (HSD) are connective tissue disorders that cause joint hypermobility, instability, injury, and pain. Other problems such as fatigue, headaches, GI problems, and autonomic dysfunction are often seen as part of HSD.

The clinical picture is complicated and unique for each person. This is both challenging and something that our field is well suited to treat. In my work with this patient population. We are good at treating syndromes when we listen to the person in front of us and prioritize what is important to them.

EDS/HSD involve multiple physiological systems and each person will tell us how their body and nervous system are experiencing the disease. Our job is to follow them and use our skills within the frameworks they offer us and not the other way around - us making them fit our framework. Because the clinical picture is complex it’s best to understand that we should be working with these folks within a larger care team. Ideally, with someone specifically trained in EDS/HSD. 

In my work with this patient population I have found that indirect myofascial release techniques are especially helpful. Also, helpful is zooming out to see the whole body. Often, multiple myofascial chains are involved.

The EDS/HDS Symptom Picture

This is generalized as it’s a super complex topic. Please use this as a starting point for your study.

The Ehlers-Danlos society makes the point that both EDS and HDS are spectrum disorders and so symptoms will present with variability in each person. According to EDS site the HSD spectrum will include some combination of the following symptoms:

  • Joint instability

  • Pain 

  • Fatigue 

  • Anxiety 

  • Headaches

  • GI Issues (see above, though MCAS isn’t the only cause, gastroparesis can also be present). 

  • Mast Cell Activation Syndrome (MCAS): 

    • This is complex but in simple terms is the abnormal activation of mast cells, then the immune system releases various chemicals and this causes a wide range of symptoms (source Yale Medicine). In my practice, I most commonly see this as digestive distress, specifically histamine responses to food. Sometimes this leads to severely limited diet. 

  • Dysautonomia: 

    • POTS is a common presentation in HDS/EDS. This is also complex and multifactorial. Folks with dysautonomia don’t necessarily have HDS or EDS but folks with EDS or HDS may absolutely have dysautonomia as one of the symptoms. The Dysautonomia Project has an informative page.

EDS can present with any of the symptoms listed above AND can also present without joint hypermobility. There can be skin issues including hyperextensibility (too stretchy), easy bruising, delayed wound healing, tissue fragility including organs and vascular tissues.

See Dani's list of comorbidities/co-occurrences here. It’s a great list and offers us an opportunity to start to develop our pattern recognition skills. Again, so many of these symptoms are common in our practices. Just because someone has one of these symptoms does NOT mean you should diagnose them with EDS/HDS. It does mean we should be on the lookout for symptom groupings that contain the main symptom picture/s that can be associated with EDS/HDS and factor that into our treatment plan and how we might support them in referrals. Dani has a referral list here. 

How EDS/HDS Might Show Up in Your Practice

The most common symptom clinicians will initially encounter is pain combined with joint hypermobility, generally affecting the hips and/or shoulders. However, I often see pain in the neck, upper thoracic spine and upper extremities. Pain in the joints of the hands and/or feet are also common.

Many of the EDS cases I see also have concurrent diagnoses of Mast Cell Activation Syndrome (MCAS) and Postural Tachycardia Syndrome (POTS). In these instances there will also be digestive issues and any combination of the various dysautonomia symptoms.

One of the common pain presentations of EDS/HDS in my practice is wandering or changing pain patterns. There may be a few distinct locations for the pain and yet the ways in which it presents and what triggers it change from session to session or over time. None of this is simple. The myofascial pain patterns require a distinct myofascial mapping perspective as the pain patterns can span multiple myofascial chains from the head to the feet.

One of Dani’s resources that I love is the episode of the Bendy Bodies podcast that focuses on fascia with Dr. Tina Wang. Dr. Wang references the clinical reality that long fascial chain patterns occur with this population. For example, ankle pain that refers to the neck or vice versa (see minute 27). I absolutely see this in my practice. Dr. Wang makes the point that this occurs differently in each patient and will change over time within a patient based on different lifestyle choices.  

Patients/clients are often very good at identifying the relevant myofascial chains (or any of their specific symptom pictures) for us if we are willing to listen and follow their lead. As much as I have trained myself over the arc of my career to do this, it can still be challenging. We have to zoom out rather than zoom in. We have to figure out how to do a little bit of work in each area involved. We have to find ways to integrate these areas either throughout or towards the end of the session. In total transparency, this is a learning curve for me with the EDS/HDS patient population.

Case Example

I have an EDS patient whose symptom picture includes a tethered cord (when the spinal cord becomes attached to the dura, usually in the lumbar or lower thoracic region). This can go undiagnosed for a long time. Symptoms initially present cranially or cervically or as localized pain patterns, as the tissues become more dense with age. Symptoms typically present in young adulthood, but can appear later in life.

This person has an uncanny interoception. They regularly blow my mind and challenge my anatomical mapping at how they describe minute movements they make to alleviate pain, a subtle tilt of the chin with a movement of the jaw and eyes for example. They are tireless because they have had to be in order to survive their pain. In our first couple of sessions, they were incredibly encouraged to learn that there were anatomical relationships that explained the hows/whys of the specific positions they find to alleviate some portion of their pain. They also have amazing insights about the nervous system and the relationship between pain and fear in their body. There is no doubt they are a teacher.

They came to me after a surgery to release the tether. As I listened to them describe their experience I started sharing small anatomy examples of what it seemed like they were doing. No one had done this for them so they finally felt validated and empowered. Each session we end up spending a little time dorking out on some highly specific anatomy.

We have found that acupuncture or myofascial work around the site of the tether and up the spine combined with craniosacral therapy has been very helpful. They have an incredible care team of which I am honored to be a part of and by no means think my work with them is curative. But, with all of us on the team and the surgery, they are getting better. They were even able to go to a friend's wedding and fully participate - an obvious gift for all involved.

My point with the case is that these folks require all of our skill sets in conjunction with a team of other care providers. If you are reading here you likely have an interest in some combination of myofascial work, craniosacral therapy or visceral fascial work. These folks need us and we need to learn more about their conditions so we can be a more effective part of their care team.

How Common are EDS/HSD?

This is not an easy question to answer. The short answer, if we look at the most current research, is that about 1 in every 600 have some variation of HSD/EDS. However, this is most likely a significant underestimate due to the lack of knowledge about the syndromes and the fact that symptoms are so varying across the population of affected individuals. Said another way, these syndromes are wildly under-diagnosed and we can expect that the numbers of folks with this diagnosis will increase, potentially rapidly and concurrent with that will be increased need for literate care providers.

Or as said on the Ehlers-Danlos Society website:

The belief that EDS is rare or ultra-rare is true for several forms of the syndrome, but increasingly the hypermobile type of EDS (hEDS) is thought more common, and HSD much more common….Yet often the journey to diagnosis and treatment is challenging for patients, who may receive no diagnosis or misdiagnosis. In addition, misconceptions that the issues are solely mental health concerns are commonly reported. Too often there is more than a decade delay in diagnosis, and the negative impact on quality of life from living with under-managed disease is significant.…

What is Our Role as Body-Oriented Healthcare Providers?

There is no cure for EDS/HSD but there is a growing body of work being done across disciplines to generate more understanding and care options for folks with EDS/HSD. Like all things fascia related, this is a rapidly evolving field of study and one we should all be aware of. While the conventional care setting may not exactly agree with this, I think those of us who are dedicated to developing our skillsets in myofascial, craniosacral and visceral work are a form of specialist for this population. And, we need to work with other specialists who can manage the complexity of these cases. Between my clinical experience and the little bit of self-study that I have done, I have no doubt that listening based hands-on work can be a meaningful component of care for folks with EDS and HSD.

No individual healthcare professional can truly manage all aspects of these conditions at an expert level. Care typically requires a holistic and multi-disciplinary approach. Yet, such care, ideally embedded in the community, supported by subspeciality, medical, therapies, and social care is lacking for EDS and HSD. Currently, there are small numbers of expert clinics, centers and networks striving to support patients and colleagues. Access to care is profoundly limited, yet management of many of the common concerns is well within the ability of most generalists with specialist support when needed.

As I mentioned at the beginning of this post, we are a care community, and as such, it is important we continue to learn about evolving conditions that are impacting folks' lives. There is a great need for educated care for this population as well as advocacy for increased awareness through the healthcare system. Most important, is each of us, whatever type of practice we have, becoming more educated so that we can do better to help what is sure to be an increasing subset of our practice. 

I encourage you to check out the EDS ECHO training program for Allied Healthcare Professionals. I’ve heard great things about this program from colleagues and it’s affordable.