Hypermobile EDS Clinically Similar to Hypermobility Disorders, Study Finds

Vanda Pinto, PhD avatar

by Vanda Pinto, PhD |

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Excluding pain, movement problems and spontaneous bleeding, people diagnosed with hypermobile Ehlers–Danlos syndrome (hEDS) and those with hypermobile spectrum disorder (HSD) have comparable disease severity and extra-articular (not affecting the joints) symptoms, according to a study.

A physical therapy program also eased symptoms in a similar way for about half of the patients with either of these disorders.

The researchers noted that their findings “add weight to a clinical pragmatic proposition to consider hEDS/HSD as a single entity that requires the same treatments,” and supports those questioning recent diagnostic criteria that distinguishes between the two.

The study, “Are patients with hypermobile Ehlers–Danlos syndrome or hypermobility spectrum disorder so different?,” was published in the journal Rheumatology International.

As the diagnosis of hypermobile EDS is typically challenging, the International EDS Consortium in 2017 suggested diagnosis criteria based on clinical evaluation. People with joint hypermobility who do not fulfill the criteria for hEDS are diagnosed with HSD.

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Some researchers, however, found these criteria failed to identify patients who are more severely affected, and to overlook some extra-articular symptoms of hEDS, such as those that affect the bones, the nervous system, and the immune system. It also did not address how people diagnosed with hEDS or HSD, based on the 2017 criteria, would respond to management approaches like rehabilitation and physical therapy.

Recent studies suggest that hEDS and HSD are physiologically similar, the researchers noted, with hypermobile EDS being considered a more severe form. The two should be grouped together for research and clinical management, these studies indicate.

To look more closely at this, researchers in Switzerland compared hEDS and HSD patients, all classified according to 2017 diagnostic criteria, in terms of symptom severity — including extra-articular manifestations — and in response to a standardized physical therapy program given for at least one year.

The team recruited 97 adults, mostly women (92.7%) with a median age of 40, attending hypermobility-specific consultations at Lausanne University Hospital between November 2017 and April 2019.

Of them, 61 were diagnosed with hEDS and 36 with HSD based on the diagnostic criteria.

For hEDS, these criteria were three-fold: generalized joint hypermobility according to the Beighton scoring system; the presence of a minimum of five systemic (body-wide) manifestations, and/or a family history of hEDS, and/or problems with the musculoskeletal system (two of these three); and no other diagnoses (comorbidities) that could explain these symptoms.

Participants also completed the 16-item clinical severity score (CSS-16) questionnaire, aided by a physician. CSS-16 reflects the severity of such problems as pain, fatigue, sleep disturbances, spontaneous bleeding, gastrointestinal or bladder issues, and cognitive difficulties. Extra-articular symptoms assessed included bone pain or fragility, neurologic pain (a result of damage to the nervous system) and mast cell activation syndrome — repeated episodes of allergic symptoms such as hives, swelling, low blood pressure, difficulty breathing and severe diarrhea.

“To test the ability of the 2017 diagnostic criteria to identify patients with clinically severe disease and with extra-articular involvement, we compared CSS-16 scores and prevalence of bone involvement, neuropathic pain … between the hEDS and HSD groups,” the researchers wrote.

All underwent an initial exam (setting baseline measures), and were examined again at six months and at least one year later. At these later follow-ups, both hEDS than HSD patients were asked: “Compared to the initial assessment, how do you now consider yourself regarding pain, disability, injury and empowerment?”

The physical therapy program aimed at body awareness, coupled with low-resistance/low-impact exercises to strengthen deep and stabilizer muscles. A cognitive behavioral approach was part of a plan for home-based exercises, and patients were encouraged to return to select physical activities or sports.

The Beighton score, ranging from zero to nine, was significantly higher for hEDS than HSD patients. However, in its categorical form of yes or no, according to the first of the three-part 2017 criterion, no differences were found between people with hEDS or HSD.

Its two other parts — systemic manifestations, family history and/or musculoskeletal problems, and comorbidities — were more frequent in hEDS than HSD patients. Researchers reported that 18% of hEDS patients had more than five systemic manifestation, 93%  had a family history of this disorder, and 98% had musculoskeletal pain. Among those with HSD, 22% had other co-existing conditions with confounding symptoms (Fabry disease, psoriasic arthritis, multiple sclerosis, and Sjögren syndrome).

All patients experienced pain, and the majority (82%) reported a severe score. Fatigue, sleep problems, dysautonomia — a complex group of disorders caused by abnormalities in the autonomic nervous system, which governs involuntary body functions like heartbeat and breathing — and gastrointestinal symptoms were severe in more than 40% of patients.

CSS-16 scores were significantly higher in hEDS than in HSD patients (40.0 vs. 31.5). However, only pain, motor symptoms and bleeding were significantly more severe in those with hEDS.

Extra-articular manifestations such as bone fragility, neuropathic pain, and mast cell activation syndrome were equally predominant in hEDS and HSD patients.

A total of 76 patients (78%) were through about six months, and 59 (61%) for at least a year. Researchers noted that participants lost to follow-up at six months had a lower CSS-16 score than those not lost, and fewer hEDS patients than HSD ones left the study early (13% vs. 36%).

At the six-month and 12-month follow-up, 36.8% of hEDS and 54% of HSD patients considered that their condition improved, with no statistically significant differences reported between the groups. “These results are encouraging and motivating when we know that instability is the main cause of pain and deteriorated quality of life in hypermobile patients,” the researchers wrote.

Having a relative with hypermobility was found to be an independent predictor of a good prognosis, although the team had no clear explanation for this finding. The researchers speculated that having a family member with the same disorder possibly motivated patients to seek rehabilitation.

“This study provided additional information about the limited accuracy of the new 2017 diagnostic criteria to distinguish the severity of symptoms between patients with a diagnosis of hEDS and HSD and the prevalence of extra-articular manifestations: detection of bone fragility, neuropathic pain and MCAS symptoms,” the team wrote.

In addition, “the diagnostic category (hEDS vs. HSD) does not appear to be a prognostic factor for outcomes after physical therapy. Good clinical practice for hEDS and HSD must integrate a coordinated physical therapy program, if possible within a network of experienced caregivers, which could become the standard of care,” they added.

“This study showed that a coordinated physical therapy program could improve patient symptoms similarly in hEDS and HSD, for about half of the patients.”