Obstructive sleep apnea and CPAP efficacy in patients with Hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder: a case-control study.

PURPOSE: Hypermobile Ehlers-Danlos syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD) are hereditary tissue disorders existing on a spectrum associated with insomnia and obstructive sleep apnea (OSA). Oropharyngeal abnormalities in hEDS/HSD may exacerbate OSA; this study investigates if continuous positive airway pressure (CPAP) adequately decreases daytime sleepiness in hEDS/HSD patients with OSA.

METHODS

A single institution retrospective review was conducted from 2020 to 2024. Adults with hEDS/HSD and OSA (cases) were matched based on sex, age, race, and body mass index (BMI) to adults with OSA (controls). Data from polysomnogram (PSG), sleep clinic consults, and reevaluation 3-9 months post-CPAP were analyzed. The Epworth Sleepiness Scale (ESS) was used to assess daytime sleepiness.

RESULTS

68 cases (47% hEDS/53% HSD, Beighton score 5.71 ± 2.29, age 34.07 ± 13.28, BMI 32.88 ± 8.47) were matched to 68 controls. All pairs completed PSG; 53 pairs pursued CPAP; 41 pairs were reevaluated. Cases had lower sleep efficiency (77%±16% vs. 82%±10%, p < 0.05) and higher insomnia prevalence (44.7% vs. 34.3%, p < 0.05). Pre-CPAP ESS was similar (10.39 ± 4.89 vs. 11.22 ± 5.12, p > 0.05). CPAP reduced ESS in controls (- 4.46, p < 0.05) but not in cases (- 1.56, p > 0.05). Cases and controls had similar CPAP compliance (75.6%±25.2% vs. 74.6%±26.7%, p > 0.05), Apnea-Hypopnea Index (AHI) (7.2 [13.6] vs. 7.0 [12.7], p > 0.05), lowest SpO2 (86.08%±4.31% vs. 85.67%±3.52%, p > 0.05), and residual AHI (1.55 [1.75] vs. 1.2 [1.35], p > 0.05). Cases used nasal masks less frequently (22.6% vs. 41.5%, p < 0.05).

CONCLUSION

CPAP was not associated with a statistically significant improvement in daytime sleepiness in hEDS/HSD patients despite effective treatment, suggesting that hypermobility-related factors beyond OSA may contribute to residual sleepiness.