Are patients with hypermobile Ehlers–Danlos syndrome or hypermobility spectrum disorder so different?

Abstract

Diagnosing hypermobile Ehlers–Danlos syndrome (hEDS) remains challenging, despite new 2017 criteria. Patients not fulfilling these criteria are considered to have hypermobile spectrum disorder (HSD). Our first aim was to evaluate whether patients hEDS were more severely affected and had higher prevalence of extra-articular manifestations than HSD. Second aim was to compare their outcome after coordinated physical therapy. Patients fulfilling hEDS/HSD criteria were included in this real-life prospective cohort (November 2017/April 2019). They completed a 16-item Clinical Severity Score (CSS-16). We recorded bone involvement, neuropathic pain (DN4) and symptoms of mast cell disorders (MCAS) as extra-articular manifestations. After a standardized initial evaluation (T0), all patients were offered the same coordinated physical therapy, were followed-up at 6 months (T1) and at least 1 year later (T2), and were asked whether or not their condition had subjectively improved at T2. We included 97 patients (61 hEDS, 36 HSD). Median age was 40 (range 18–73); 92.7% were females. Three items from CSS-16 (pain, motricity problems, and bleeding) were significantly more severe with hEDS than HSD. Bone fragility, neuropathic pain and MCAS were equally prevalent. At T2 (20 months [range 18–26]) 54% of patients reported improvement (no difference between groups). On multivariable analysis, only family history of hypermobility predicted (favorable) outcome (p = 0.01). hEDS and HDS patients showed similar disease severity score except for pain, motricity problems and bleeding, and similar spectrum of extra-articular manifestations. Long-term improvement was observed in > 50% of patients in both groups. These results add weight to a clinical pragmatic proposition to consider hEDS/HSD as a single entity that requires the same treatments.

Ehlers–Danlos syndromes, hypermobility spectrum disorders, and associated co‐morbidities: Reports from EDS ECHO

“…These and more areas of health concern continue to be explored. Recent large population and registry data affirm their high prevalence in EDS and HSD (Boris & Bernadzikowski, 2021;Cederlöf et al, 2016;Demmler et al, 2019;Hakim et al, 2020;Ritelli, Venturini, Cinquina, Chiarelli, & Colombi, 2020;Schubart et al, 2019), and reports also describe similar severity of co-morbidities in hEDS and HSD (Aubry-Rozier et al, 2021;Copetti et al, 2019;Hakim, 2019).…”

Characterization of small fiber neuropathy in hypermobile Ehlers Danlos Syndrome

“…These results further question whether hEDS and HSD, while separated by the 2017 diagnostic criteria, are two different entities, a debate already opened by other authors [5, 71, 72]. The assumption of a clinical continuity between hEDS and HSD emerges from the early observation of a nearly complete overlap between hEDS and joint hypermobility syndrome (JHS), an obsolete term previously used to define aspecific phenotypes of clinically relevant hypermobility [2, 71].…”

“…Patients were referred to the pain center because of symptoms compatible with SFN (dysesthesia or dysautonomia). Hence, the described cohort is not reflecting a full population of hEDS/HSD patients (as described in [5]), but only a significant proportion (50%). The assessment of an entire cohort would allow to determine more precisely the SFN prevalence in a general population of hEDS/HSD including those who are asymptomatic.…”

“…In our cohort, there were no significant differences on any of the measures between patients fulfilling 2017 hEDS or HSD criteria. These results further question whether hEDS and HSD, while separated by the 2017 diagnostic criteria, are two different entities [5, 53]. Additionally, none of the classification systems categorizing hypermobility syndromes, whether by Villefranche, Brighton or Malfait 2017, appears to stratify successfully patients according to severity [53].…”

“…First, the retrospective design entails some significant limitations: patients were referred to the pain center because of symptoms compatible with SFN (dysesthesia or dysautonomia). Hence, the described cohort is reflecting a small but significant proportion (50%) of a full population of hEDS/HSD patients (as described in [5]). Assessments of an entire cohort could determine the SFN prevalence in a general population of hEDS/HSD, including those who are asymptomatic.…”