Within a month of announcing UVA Health’s new comprehensive Ehlers-Danlos program, there were already more than 550 patients wanting to be seen. For each of these patients, a dedicated staff reviews records, prioritizes appointments, and discusses how to improve access. It’s clear that the need is great.
In the United States, there are only 15 Ehlers-Danlos-focused treatment programs. For most patients, treatment is piecemeal symptom management. But even though there’s no cure, that doesn’t mean that treatment can’t be more connected.
As a pediatric integrative health specialist, Ina Stephens, MD, has helped connect care for children with hypermobile Ehlers-Danlos and hypermobility spectrum disorder. For these patients, treatment plans focus on the whole body and overall health in addition to addressing their symptoms.
Before coming to UVA Health, Dacre Knight, MD, founded and led the Mayo Clinic’s EDS clinic. Knight and Stephens both emphasize the need for personalized evaluations and individualized treatment plans for EDS patients.
The Path to Diagnosis
Hypermobile Ehlers-Danlos and hypermobility spectrum disorder appear to affect close to 1 in 500 people. A much greater number than the once estimated 1 in 5,000. Part of this increase is a better understanding of the many ways connective tissue disorders can present.
“Even within the same family, every patient is different,” Stephens says. “Their biggest problem, what they need the most help with, can be very different.”
This difference is reflected in patients’ referral pathways. Joint pain, gastrointestinal concerns, and migraines all lead to very different specialists. And even if patients find relief from their presenting symptom, new problems are likely to appear over time.
The range of initial symptoms leads to a much longer road to diagnosis. Stephens says, “As a result, patients can be referred to multiple subspecialists for years prior to formal diagnosis, and often receive fragmented care.”
Knowledge & Advocacy
Many connective tissue disorder patients have been told that pursuing a diagnosis won’t help. After all, there’s no cure. Treatment is often focused on symptom management, and the same treatment options exist with or without a diagnosis. Physical therapy, for example, can be a referral destination for any patient with joint instability.
But for Stephens, it’s not just about the presenting symptom. It’s about healing the body and giving patients solutions not just for their current symptoms but also their future concerns.
For patients or providers interested in improving their knowledge of hypermobility-related problems, Knight and Stephens are excited to announce their new partnership with Linda Bluestein, MD, the host of Bendy Bodies, a podcast about hypermobility. This podcast's popularity is due to its mix of medical information, practical advice, and empathy.
Check It Out
Diagnosis offers another powerful benefit. It helps patients realize that they aren’t broken or dealing with dozens of problems, but rather one complex problem. And one they’re in good company with.
But knowledge and advocacy aren’t only for patients. Primary care doctors are the first stop most of these patients make.
Most patients spend over a decade between symptom onset and diagnosis and visit their doctor frequently. Because their concerns seem unconnected or minor, it can be hard for their doctors to know how to help. When doctors understand connective tissue disorders, they can see the patients’ symptoms in context. This can lead to a faster and more accurate diagnosis, as well as more nuanced treatment options.
Guidelines & Limitations
When evaluating joint hypermobility, the Beighton test acts as a scale. This test uses a series of joint movements to assess how widespread and severe joint laxity is. Adults with a score of 5 or greater and children with a score of 6 or greater may be hypermobile. But ultimately, diagnosis is a clinical determination, and one with a lot of caveats.
Four points are tied to hand and finger movements, there are none for areas where patients frequently complain of hypermobility and pain. Some patients may have a greater range of pain-free movement thanks to mobility training, while others may have once been extraordinarily flexible before dealing with chronic pain and repeated injuries.
Patient histories and self-reported symptoms become incredibly important. Most importantly, Stephens emphasizes not losing sight of the patient who is in the room. “Symptomatic patients deserve treatment.”
Ultimately, a patient with a high Beighton score may not need treatment if their hypermobility doesn’t cause pain. Meanwhile a patient who is a point or two short of meeting the diagnostic criteria may need more support due to pain brought on by their condition.
Is It Always Ehlers-Danlos?
When meeting with new patients, Stephens keeps a lookout for red flag symptoms. A history of familial aortic aneurysm, a marfanoid appearance, or serious vascular symptoms all indicate a need for genetic testing.
Even though these conditions may also have hypermobility, they also have other effects that need to be monitored, like aortic dilation. But these other conditions are much rarer, and they only represent 10-20% of the patients that Stephens sees.
Other patients come in with post-orthostatic tachycardia syndrome and benign joint hypermobility. Social media has helped patients know that postural orthostatic tachycardia syndrome (POTS) is a common comorbidity of connective tissue disorders, but it also can occur on its own, and it frequently does. Long COVID can lead to post-viral POTS and has caused a surge of cases since 2020. But helping each patient resolve the symptoms is Stephens’ primary focus.
Hypermobility spectrum disorder is another frequent diagnosis for patients with problematic hypermobility and no family history. But for Stephens, this is a distinction without a difference. HSD patients can often have the same severity of symptoms as those with hEDS and often require the same treatment.
More & Better Research
Out of the 40 genes that contribute to collagen production in the body, genetic testing only looks at a handful. While a new marker found in April 2024 may help identify patients with hypermobile-type Ehlers-Danlos, it’s most likely just the tip of the iceberg.
But UVA Health’s Ehlers-Danlos program means more research and better research. Genotype studies, treatment protocols, and revisions to the diagnostic criteria for hypermobility are just some of the future changes Stephens sees on the horizon. “These changes are coming from listening to patients,” she says, and from imagining better for them.
UVA Health’s program opening isn’t just about helping a few patients. It’s about improving our understanding of these conditions, how to treat them, and how to support patients. All of which can lead to helping many, many more.