Explore this article:
⋅ What Is Hypermobility?
⋅ From Party Trick to Chronic Pain
⋅ Treatment Fundamentals
⋅ The Challenges of Self-Diagnosis
Linda Bluestein grew up in a ballet studio with dreams of becoming a professional dancer. She had some typical childhood health issues — asthma, eczema, allergies. But in her teen years, her body seemed to turn on her more forcefully. Joint pain sent her to a rheumatologist. Then a series of injuries led to unsuccessful surgeries followed by prolonged periods of recovery.
“I realized my plan of being a professional dancer wasn’t going to work out,” she recalls. Instead, she decided to pursue a career in medicine.
Meanwhile, her health issues and “freak injuries” persisted. A simple collision on a dance floor led to a torn elbow retinaculum (the band of thick fascia that holds tendons in place). She dealt with migraines, irritable bowel syndrome (IBS), and autoimmune thyroiditis. When she developed a Tarlov cyst at the base of her spine — a fluid-filled sac that can compress the surrounding nerves — she finally detected a pattern connecting her idiosyncratic symptoms.
“I was reading about these cysts and learned that they’re more common in people with connective-tissue disorders,” says Bluestein, now an integrative-medicine physician. In 2012, she visited another rheumatologist. “He was doing all these different things with my body and my joints, and he was like, ‘This is not normal.’”
At last, at age 47, she received a diagnosis of hypermobile Ehlers-Danlos syndrome, a connective-tissue disorder that helped explain her array of health issues.
Ehlers-Danlos syndrome (EDS) is a group of health conditions caused by defective collagen, the protein that adds flexibility and strength to connective tissue. Unlike other connective-tissue disorders, such as rheumatoid arthritis and lupus, which are autoimmune in nature, EDS is an inherited genetic condition with a range of subtypes.
Hypermobile EDS (hEDS) is the most common of the 13 EDS subtypes. It’s thought to affect as many as one in 5,000 people worldwide, predominantly women. In addition to generalized joint hypermobility, people with hEDS often have hyperelastic skin, frequent joint dislocations, cardiac complications, vertigo, and a family history of the condition.
Joint hypermobility alone is not hEDS. Hypermobility is relatively common: It’s seen in up to 40 percent of children and 20 percent of adults. And hypermobile joints usually don’t cause problems. But for those with connective-tissue disorders, it’s a different story.
What Is Hypermobility?
Visit any yoga class and you’ll observe a wide range of bendiness, though the person who can easily reach their toes in a forward fold doesn’t necessarily have hypermobility. “There’s a difference between flexibility and hypermobility,” notes Patty Stott, DPT, ATC, CHT, who works with hypermobile patients in Arvada, Colo.
Hypermobility means that joints can move beyond the normal range of motion. This can be an ability to put a foot behind the head, but more often it involves sensations of joint instability during everyday activities — like a shoulder slipping out of place while carrying groceries.
Flexibility, on the other hand, refers to the ability to lengthen muscles. Someone can be very flexible and still have stable joints. “And you can actually have very tight muscles while having symptomatic hypermobility at the joints,” Stott says.
Flexibility is an important component of overall fitness, but joint hypermobility caused by loose or weak ligaments comes with risks. These include dislocations and subluxations (partial dislocations), pain, and postural issues.
The ligaments that hold the joints in place are made of connective tissue, which is found in various forms throughout the body, so loose, hypermobile joints can signal bigger issues, Stott explains. “Hypermobility can be a symptom of an underlying connective-tissue disorder.”
This might be hEDS, or it might be hypermobility spectrum disorder. HSD shares many features with hEDS but has looser diagnostic criteria. The distinction between the two diagnoses may prove to be important for researchers as they continue to look for the genes responsible for hEDS.
A primary tool for diagnosing hypermobility is the Beighton score, a “snapshot of the joints” that looks at the range of motion in the knuckles, elbows, knees, base of the thumbs, and the spine. The higher one’s score, the more mobile their joints.
Still, for treatment purposes, hEDS and HSD are similarly managed, says Dacre Knight, MD, medical director of the Ehlers-Danlos Syndrome Clinic at Mayo Clinic in Jacksonville, Fla.
A primary tool for diagnosing hypermobility is the Beighton score, a “snapshot of the joints” that looks at the range of motion in the knuckles, elbows, knees, base of the thumbs, and the spine. The higher one’s score, the more mobile their joints.
Again, hypermobile joints alone don’t necessarily mean one has hEDS or HSD. “Just having dislocations or being able to do the splits doesn’t mean you have a problem,” Knight explains. Hypermobility becomes a concern when it’s one in a constellation of symptoms that manifest throughout the body.
To determine whether someone with hypermobility may also have a connective-tissue disorder, clinicians conduct a comprehensive exam and medical history. “We would look for things like, Have you had multiple hernias or pelvic organ prolapse? What does your skin look like? How do your scars heal?” Knight says. “And family history is very important — it’s the cheapest and quickest genetic test out there.”
From Party Trick to Chronic Pain
Researchers have outlined three phases of hEDS and HSD.
The hypermobile phase is the first stage. Bluestein, who now specializes in hEDS and treats performing artists with an increased risk for hypermobility disorders, refers to it as the “fun” phase. “It’s when you’re able to do all kinds of party tricks. I used to put both feet behind my head and walk on my elbows and do all kinds of goofy things to entertain people,” she says.
Knight notes that children are generally more mobile than adults, with extra space in the joints where bone can grow. Their ligaments and tendons are also more flexible, protecting them from tears as they learn to crawl and walk, so hypermobility in kids is not always a sign of trouble.
The pain phase is the second stage for those with hEDS or HSD. Between these first two phases, there’s often a period of mystery ailments and injuries, Bluestein notes. This might include joint instability, musculoskeletal pain, gut symptoms, migraines, or mast-cell activation such as eczema, asthma, and allergies. (More on mast cells later.)
“The pain phase is when the nervous system has had enough painful input that someone starts to develop nociplastic pain,” Bluestein explains. Nociplastic pain (sometimes called central sensitization) arises from pain signals that have become distorted or overly sensitized in the central nervous system.
“It comes when people have been in pain for a while, so their nervous system is just not able to filter things out,” she says. This phase usually arises in someone’s second, third, or fourth decade of life.
“This is when we see most of our patients presenting. They might have had injuries from hypermobility ongoing for years, and [the underlying cause] has been undiagnosed,” says Knight. He notes that the average timespan from symptom onset to diagnosis is more than 10 years.
A trigger such as an injury or infection can also launch someone into the second phase. “If the immune system gets activated, we get more inflammation, which can increase pain and other symptoms,” Bluestein says. “It’s not uncommon for children with hEDS or HSD to be functioning at a high level until they hit a certain trigger.”
Puberty itself may serve as a trigger thanks to changing hormones. This may include issues with mast cells, which are white blood cells that play an important role in the immune system and are found throughout the connective tissue. They have hormonal receptors on their surface, and estrogen can stimulate mast cells to release histamine and other chemical mediators that may play a role in hypermobility symptoms.
“We don’t know how much of the increase in symptoms around the time of puberty, especially in females, is due to cycling hormones or mast cells,” Bluestein says. “But there’s data on other painful conditions that puberty is a critical time of increased pain and a real change in trajectory.”
The joint-stiffening phase is the third stage, and typically comes in the fifth, sixth, or seventh decade of life. While this phase can bring the downsides of joint degeneration and osteoarthritic pain that are common across the general population, stiffer joints may also reduce dislocations and injuries in hypermobile people, Knight says. He notes that more research is needed.
Bluestein adds that this phase can also be seen as the optimization phase, when hypermobile people have learned how to navigate their condition more safely. “You’re learning what you can and can’t get away with. Now I know, for instance, not to try to open packages with my hands but to use ergonomic tools, use an ergonomic mouse for my computer — things like that.”
People with hEDS or HSD do not have decreased life expectancy. “So, all of our focus is on improving quality of life,” Knight says. Ideally, this means recognizing and diagnosing hypermobility and its related conditions early, to avoid greater complications down the road.
Hypermobility’s Co-Travelers
Connective tissue is everywhere in the body, so it shouldn’t be surprising that connective-tissue disorders can produce a wide range of health issues. But because conventional medicine tends to divide the body, with specialists focusing solely on individual organ systems, patients sometimes go years without anyone connecting the dots among their symptoms.
“The primary systems where we tend to see consistent problems in this population are the nervous, immune, and gastrointestinal systems,” Stott says. “These systems tend to be less efficient on a cellular level. But that gives us a lot of access points to figure out where an individual needs support.”
In addition to joint hypermobility, these are some of the most common conditions seen in people with hEDS or HSD.
Postural orthostatic tachycardia syndrome (POTS)
This syndrome involves rapid heart rate, fatigue, and dizziness when standing up. “POTS is seen with more frequency in our patient population than in the general population, though still not the majority,” Knight says.
Symptoms are caused by dysregulation of the autonomic nervous system (ANS), which governs processes such as heart rate, breathing, and digestive function.
POTS is also associated with an overactive sympathetic nervous system, which governs our fight-or-flight response. This can interfere with sleep, digestion, energy, and cognition. One theory about the connection between hEDS and POTS is that lax connective tissue in the blood vessels may lead to faulty blood-pressure control.
Mast cell activation syndrome (MCAS)
Mast cells are the body’s first responders to foreign invaders. They deploy a large arsenal of chemical mediators to head off various dangers, including enzymes that damage connective tissue.
Researchers have noted a subset of long-COVID patients who develop pain and joint hypermobility; mast cells are a potentially critical link. “It may be that viruses activate mast cells, causing damage from inflammation, which translates to weakening joints, tendons, and ligaments,” Knight explains, adding that the research into a potential long COVID–hEDS link is still in its early stages.
Fatigue and brain fog
More than three-quarters of Knight’s hEDS and HSD patients report fatigue and brain fog. He suggests a couple of possible causes. “One, the muscles are having to work harder to stabilize the joints. Another reason for fatigue is that a lot of patients have injuries and chronic pain, which can lead to deconditioning.”
When exercise tolerance flags, even low levels of exertion can feel exhausting. “It’s important that we encourage patients to find some form of healthy, safe, physical activity they can do to prevent this,” Knight says. “If it’s not prevented, it can lead to a vicious cycle of fatigue where little activities like walking up the stairs become really fatiguing.”
Finally, unrefreshing sleep (which can go hand in hand with pain or a dysregulated ANS) can contribute to feeling chronically fatigued.
Anxiety
An Iranian study, published in 2020, found that hypermobility was three times more prevalent in children with anxiety disorders than in those without. And a 2014 study in Frontiers in Psychology found that people with hypermobile joints have heightened brain activity in brain regions associated with anxiety.
Stott notes that electrical and functional problems in the ANS of people with hEDS or HSD may help explain this; it’s like faulty wiring. “The ANS digests all our life experiences just like the GI system does with food. When hypermobility is present, we see inefficiency in this system. When it isn’t working optimally, you’re going to get faulty messages.”
A dysregulated ANS and anxiety can get into a feedback loop, with anxiety exacerbating dysautonomic symptoms of rapid heart rate, shallow breathing, and dizziness, and vice versa. Those with a history of trauma, adverse childhood experiences, or chronic stress may be particularly challenged.
Digestive issues
Gut-health issues are another common problem for people with connective-tissue disorders. The intestines are made of connective tissue, and laxity there can impede the movement of food and stool through the digestive tract.
The parasympathetic nervous system, which puts us into rest-and-digest mode, may also be underactive in people with hEDS or HSD, leading to functional gut issues. “IBS, nausea, and bloating are quite significant and very common in people with hEDS or HSD,” says Knight.
Treatment Fundamentals
The best treatment approach for any connective-tissue disorder with hypermobility is one that’s integrative and personalized. “There is so much variation in patients with hEDS or HSD, so treatment really has to be individualized,” Knight says.
Bluestein uses the acronym MENS PMMS to describe her treatment protocol: movement, education, nutrition, sleep, psychosocial support, modalities (such as acupuncture, massage, and cranial sacral therapy), medications, and supplements. “It’s very intentional that medications come after a lot of these other things,” she notes.
Oral medications often bring side effects, Knight adds. “We want to find things that are more sustainable because this [condition] is something that could potentially be long-lasting.”
Because there are few hEDS and HSD specialists, many patients cobble together their own care team. “You don’t necessarily need to have a primary-care provider who’s an expert in hypermobility,” Knight says, but having a physical therapist literate in the condition is necessary, “because that’s a mainstay of treatment.”
A physical or occupational therapist who’s knowledgeable about hEDS and HSD can be helpful with arranging work accommodations, Stott notes. They can design gentle strategies to improve alignment, muscle activation, and neuromuscular control while calming pain reactions.
“Safe, well-tolerated activity is very important. We need to keep the body strong and the mind happy, and physical activity helps with that,” she adds.
There are no hard-and-fast rules about which types of exercise are appropriate for people with hEDS or HSD. Yoga, Pilates, and aquatic exercise may all be helpful if done correctly and with respect for an individual’s limitations.
Still, Bluestein notes, “you have to move better before you move more. I encourage people to work with a physical therapist or Pilates instructor who can really look at your movement patterns and prescribe specific exercises for you.”
A nutrient-dense diet is likewise key for reducing inflammation, says Bluestein, though the specifics may vary from person to person. Some general principles include minimizing sugar and preservatives and increasing hydration. Some may benefit from watching their histamine intake or eliminating gluten or dairy.
“In some cases, I’ll prescribe a temporary elimination diet,” she notes. “But I really encourage people to get in touch with their body with a curious mindset and not tap into that anxious part.”
For people with hEDS or HSD, the main goal of treatment is stabilizing the body’s systems.
“They have to eat well; they have to move well; they have to recover well. They have to moderate their stress levels and really live in this happy medium,” Stott says. Supporting the nervous system, calming neuroinflammation, minimizing toxic inputs, and managing other health conditions can make a big difference in quality of life.
“Everybody has room for improvement, no matter where they’re starting from,” she adds. “With this diagnosis, you’ll have to be treated as an individual. If that’s done, you can have amazing results.”
The Challenges of Self-Diagnosis
Social media, patient-advocacy groups, and online forums have helped many patients with rare conditions connect to resources and to one another. Yet there may be pitfalls in relying too heavily on these tools.
“There’s a long list of things that can be associated with hEDS and HSD,” says Dacre Knight, MD, medical director of the Mayo Clinic’s Ehlers-Danlos Syndrome Clinic. “So, a great amount of anxiety can come when someone’s looking this up and thinking, Oh my gosh, I’m going to have POTS. How am I possibly going to live my life?”
Dacre Knight, MD cautions people to be careful with online forums. “You want to find a supportive circle online that’s solution-focused and not a competition of who’s the sickest.”
While many hypermobile patients do wait too long for a diagnosis, finding the right medical providers can help. “Have an evaluation with an experienced clinician who can say, ‘Yes, you have hEDS; this is what to do.’ You get a diagnosis and get on a path of treatment,” Knight says.
Linda Bluestein, MD, a physician who specializes in hEDS, advises patients who suspect they have the disorder to lead with their symptoms during early discussions with their primary-care provider, rather than attempting to confirm a self-diagnosis. She also cautions people to be careful with online forums. “You want to find a supportive circle online that’s solution-focused and not a competition of who’s the sickest.”
Finally, Bluestein says, be conscious of the nocebo effect — how attention and expectation can affect symptoms. “At one point, I was on a Facebook group specifically about cervical instability and I was like, Oh, the back of my head hurts!” she recalls. “When my pain was at its worst, I was on the internet doing a lot of self-diagnosing, and that can be very harmful if we don’t have a good balance of information. I try to get patients to focus on functioning better.”
This article originally appeared as “Too Flexible” in Experience Life.
This Post Has 2 Comments
Thanks for sharing Perry. I would like to ask if this disorder only affects people who do not exercise more frequently.
Hi Richard, no, the connective tissue disorders like Ehlers-Danlos syndrome are genetic, a person is born with them. Exercise can sometimes help as long as a person paces well, and goes very slowly and controlled, as most people with EDS also have chronic fatigue.
And if the fatigue is associated with ME/cfs ( also a quite common comorbidity with Eds) then exercise can cause PEM which can be very debilitating and may make the person more disabled.