Understanding Hypermobility and Ehlers Danlos Syndrome

Dr. Katie Ford, a physical therapist, strength coach and owner of Cultivate Strength in Tulsa, was diagnosed with Ehlers Danlos Syndrome (EDS) after graduating with her doctorate in physical therapy from OU. Before the diagnosis, EDS and concerns about hypermobility weren’t really on her radar.

“We did not learn about hypermobility in school,” Ford says. “It never seemed like a big deal that my range of motion was way bigger than anyone else’s. So I made it through grad school without a diagnosis, and then I got long COVID. Only it wasn’t long COVID, it was just things that were already wrong with my body got worse.”

After seeing a provider who specializes in hypermobility conditions, “I accidentally got diagnosed with EDS,” Ford recounts. Now, hypermobility is an important part of her professional practice.

Diagnosing Hypermobility and EDS

“Hypermobility is defined as someone who has one or more joints that can move naturally past their end range,” Ford says.

For many hypermobile people, this isn’t necessarily a problem. “I think about my friends who are in the circus arts,” Ford says. “They tend to feel pretty good.” However, when hypermobility does result in chronic pain or other issues, “that’s when we would define it as symptomatic hypermobility or hypermobility spectrum disorder,” Ford explains.

Ehlers Danlos Syndrome is a connective tissue disorder often characterized by hypermobility and chronic pain, in addition to other symptoms. In particular, people with EDS tend to have more elastic, often more fragile skin, which sets them apart from patients who are merely hypermobile.

“As a physical therapist, we have these normative values for how far out joints should travel,” Ford says. “And so if I have a patient who comes in and their joints are able to move way outside of that range of motion, I would diagnose them as hypermobile. If they also have some skin involvement and a lot of systemic symptoms, then I would recommend them for an Ehlers Danlos evaluation by an appropriate provider, often a PCP.”

To diagnose Ehlers Danlos Syndrome, practitioners look at three things. First, a physical examination called the Beighton score, which examines a person’s range of motion in their pinkies, thumbs, elbows, knees and spine. If the patient gets a high enough Beighton score, they are then assessed for “various other system involvements,” Ford says, “especially skin – so looking at soft, stretchy skin –a history of organ prolapse or mitral valve prolapse,” etc.

Finally, “the next criteria is a little controversial,” Ford cautions, “because they ask that you rule out any underlying autoimmunity, with the implication that if you have hypermobility and an autoimmune condition, then you don’t have Ehlers Danlos Syndrome. But most clinicians disagree with that because we see that people with Ehlers Danlos Syndrome are more likely to develop autoimmune conditions due to a predisposition for mast cell instability.”

There are 13 recognized types of EDS. All but the most common, hypermobile Ehlers Danlos Syndrome, or hEDS, have a specific genetic variant associated with them. So, patients diagnosed with EDS may choose to get genetic testing done to determine which type they have. Some of the less common types of EDS are associated with more severe symptoms like heart issues, organ fragility, and even hearing loss, so it may be helpful to know exactly what you’re dealing with, especially if you’re the first person in your family getting the diagnosis.

However, “if you have what looks like a very standard case of hypermobile Ehlers Danlos Syndrome, and you don’t have a family history of things like sudden cardiac events or unique eye diseases,” says Ford, “then some people might not choose to get genetic testing.”

Difficulty getting diagnosed

 According to Ehlers Danlos Support UK, “The journey to diagnosis for the Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD) is often a long and complicated one.” (ehlers-danlos.org)

Ford agrees, explaining, “This is going to get political. Women are more likely to be symptomatic, and we have a lot of overwhelming evidence that women have a harder time accessing objective health care. That’s just a fact.” Furthermore, there is a lack of education regarding hypermobility. Finally, “this population is more prone to being neurodivergent, which adds an additional barrier to health care, as there is often a lot of communication breakdown that happens,” Ford continues.

While medical professionals don’t know why there is a connection between neurodivergence and hypermobility, the link is undeniable. A study led by Dr. Jessica Eccles “found that more than 50% of participants with a diagnosis of Autism, ADHD, or Tourette syndrome demonstrated elevated levels of hypermobility, compared with just 20% of participants from the general population.” (ehlers-danlos.com)

“It’s hard to define what causes neurodivergence to begin with,” Ford says. “But we see these physical manifestations that have long been defined as part of autism spectrum disorder and ADHD. They are frequently manifested in people with hypermobility.”

 At what age do symptoms show?

People can begin manifesting signs of hypermobility/hypermobility spectrum disorder or EDS at any age. Commonly, symptoms will start to show during puberty – particularly for people assigned female at birth – or following a stressful life event or injury.

“For me,” Ford says, referring to the conditions leading up to her diagnosis, “I was not doing so good in grad school, while opening a business. I also bought a house, and I was parenting, you know? It was during a pandemic, too.” Other triggers could be something like having a baby or car accident, any situation that puts strain on the body either through physical injury or stress, etc.

“This can trigger the immune system to become overactive and attack the connective tissue,” Ford says. “When that connective tissue becomes degraded, that’s when you start seeing the joint instability that we frequently associate with Ehlers Danlos Syndrome.”

What parents should know

If your child is known to be hypermobile, Ford says, “My biggest message to parents is, keep your kids in sports. The most important thing that you can do for these kids is keep them moving.”

Of course, this activity can come with a risk. If a child is constantly hyperextending their joints, they can become injured or trigger a common comorbidity like MCAS (see sidebar). It is important to teach them how to advocate for themselves with coaches and teachers. This can be difficult, especially for neurodivergent kids who may need extra coaching on how to recognize the signs that they’re overdoing it.

“Teaching the concept of pacing is really important,” Ford says. “Pacing means saving your energy for when you need it. Not overexerting yourself, paying attention to symptoms like dizziness and fatigue and nausea and understanding that those are a red light for movement. You do not push through those symptoms.”

To parents who don’t know much about EDS and have a child diagnosed with the condition, Ford wants to end on a note of reassurance. “EDS isn’t necessarily progressive,” she says. “It can be so scary to think about our kids facing early pain and disability. But as long as a person with EDS stays on top of proper diet and exercise and has access to treatment for comorbidities, we can expect that person to live a long and happy life being able to do most of the things a regular human does. Don’t get me wrong, it’s a lot of work, but I promise it’s worth it!”

Common Comorbidities: MCAS and Dysautonomia

Dysautonomia and mast cell activation syndrome, or MCAS, are two conditions commonly associated with hypermobility disorders.

MCAS

MCAS is an overreaction of the body’s immune response system, either to an allergy or an acute injury.

“I really like to highlight that acute injury portion for my hypermobile friends,” Ford says. “We tend to sit in crazy criss-cross ways and not really notice when we’re hurting or if a joint is stretched out. But our immune system does notice. It will interpret that as a minor injury, and the mast cells will release these mediators [such as antihistamine] that can make us sick if they get out of control.”

MCAS can harm a person’s connective tissue. The good news is, it can be treated, often with an antihistamine; and once the MCAS has gone into remission, the connective tissue can start repairing. For this reason, Ford often recommends her patients to an allergist before embarking on a strength training plan.

Dysautonomia

Dysautonomia is an imbalance in a person’s autonomic nervous system, which is comprised of both your sympathetic and parasympathetic systems. The sympathetic system is also referred to as “fight or flight” because it’s the system that kicks into gear when you’re stressed, etc. The parasympathetic system is often called “rest and digest,” as it oversees your body’s basic functions during normal, non-stressful times.

When a person is experiencing dysautonomia, “sometimes we’ll see that the sympathetic nervous system is a little more dominant with tachycardia [the heart beating too fast] and anxiety,” Ford says. “But the next day, the parasympathetic system might be more dominant, and the person’s going to be extremely tired and having trouble focusing, with brain fog.”

“If I could get on my soap box,” she continues, “it would be that if you have a young kid who’s experiencing things like anxiety and depression and brain fog and fatigue, maybe consider that there could be an underlying issue with the autonomic nervous system. I see so much medical trauma from people who became symptomatic at a young age and were told that they were lazy, that they needed to exercise more. And yes, exercise is one of the best treatments we have for dysautonomia, but it has to be done carefully, otherwise it can make the patient worse.”

If you think your child may be experiencing dysautonomia, Ford recommends checking with your pediatrician or a local dysautonomia group for a list of recommended providers.

Stay hydrated!

For people experiencing either dysautonomia or MCAS, Ford emphasizes the importance of drinking water and getting plenty of electrolytes.

“If I have someone who comes in and they’re covered in bruises, which is a sign that their MCAS is flaring, and they’re really dizzy, and their shoulders are chronically out of the sockets, the very first question I ask is, ‘How are your electrolytes? How is that going? Are you taking your daily antihistamine?’” Ford says. “Probably 90 percent of the time the answer is ‘no’ to both of those.”