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Observational Study
. 2021 Oct;41(10):1785-1794.
doi: 10.1007/s00296-021-04968-3. Epub 2021 Aug 16.

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

Bérengère Aubry-Rozier  1 , Adrien Schwitzguebel  2 , Flore Valerio  3 , Joelle Tanniger  4 , Célia Paquier  4 , Chantal Berna  5 , Thomas Hügle  6 , Charles Benaim  7   8
Affiliations
Observational Study

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

Bérengère Aubry-Rozier et al. Rheumatol Int. 2021 Oct.

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.

Keywords: Diagnosis-related groups; Ehlers–Danlos syndrome; Health care; Outcome assessment; Symptom assessment.

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Conflict of interest statement

Bérengère Aubry-Rozier, Adrien Schwitzguebel, Flore Valerio, Joelle Tanniger, Célia Paquier, Chantal Berna, Thomas Hugle and Charles Benaim declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Patients flow chart. GJH: generalized joint hypermobility, AJH: asymptomatic joint hypermobility, MCAS: mast cell activation syndrome
Fig. 2
Fig. 2
Timeline of the study
Fig. 3
Fig. 3
Evolution of condition at T1 (6 months) and T2 (end of follow-up). No difference between groups
See this image and copyright information in PMC

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