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Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study
  1. Thomas Gaisl1,
  2. Cecilia Giunta2,
  3. Daniel J Bratton1,
  4. Kate Sutherland3,4,
  5. Christian Schlatzer1,
  6. Noriane Sievi1,
  7. Daniel Franzen1,
  8. Peter A Cistulli3,4,
  9. Marianne Rohrbach2,
  10. Malcolm Kohler1,5
  1. 1 Department of Pulmonology, University Hospital Zurich, Zurich, Switzerland
  2. 2 Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland
  3. 3 Department of Respiratory and Sleep Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia
  4. 4 Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia
  5. 5 Centre for Interdisciplinary Sleep Research, University of Zurich, Zurich, Switzerland
  1. Correspondence to Professor Malcolm Kohler, Department of Pulmonology, University Hospital Zurich, Rämistrasse 100, Zurich 8091, Switzerland; Malcolm.Kohler{at}


Background Patients with the connective tissue disorder Ehlers-Danlos syndrome (EDS) often suffer from fatigue, excessive daytime sleepiness and impaired quality of life. Obstructive sleep apnoea (OSA) may be an underlying cause for these symptoms but its prevalence in this population is unclear.

Methods In this prospective parallel-cohort study, we included 100 adult patients with EDS (46% hypermobile-type, 35% classical-type and 19% other), which were one-to-one matched to 100 healthy adult controls according to sex, age, weight and height. Participants underwent structured interviews (including short-form 36) and level-3 respiratory polygraphy. OSA was defined as apnoea–hypopnea index ≥5/hour. Photographic craniofacial phenotyping was conducted in a subgroup. Conditional logistic regression was used to compare the prevalence of OSA.

Results In patients with EDS, OSA prevalence was 32% versus 6% in the matched control group (OR 5.3 (95% CI 2.5 to 11.2); p<0.001). The EDS group reported impaired quality of life in all dimensions (p<0.05) and significantly higher excessive daytime sleepiness measured by the Epworth Sleepiness Scale (median (quartiles) 11 (7–14) vs 7 (5–10); p<0.001). OSA severity was positively associated with daytime sleepiness and lower quality of life in the EDS group. There was no evidence of a difference between the two study groups in terms of craniofacial phenotypes.

Conclusions The prevalence of OSA is higher in patients with EDS than in a matched control group. This is of clinical relevance as it is associated with fatigue, excessive daytime sleepiness and impaired quality of life. Further studies are needed to assess the clinical benefit of OSA treatment in patients with EDS.

Trial registration number NCT02435745.

  • Sleep apnoea
  • Clinical Epidemiology
  • Connective tissue disease associated lung disease
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  • Contributors TG, CG, MR and MK conceived, designed and analysed the overall study. TG and DJB designed and coordinated data collection and statistical analysis. TG, KS, CS and NS assessed study outcomes. TG, MK and PAC undertook the administration of the study. TG and MK applied for funding for this study. TG, NS, DF and CS oversaw the study assessments (craniofacial photographs, ultrasound measurements, and aortic stiffness). All authors oversaw, contributed and approved the final manuscript. TG and MK had full access to all the data in the study and had final responsibility for the decision to submit for publication. This was an investigator-initiated study.

  • Funding The research was supported by grants from ‘Lunge Zürich’ and ‘Lungenliga Schweiz’.

  • Disclaimer The funder of the study had no role in study sponsoring, design, data collection, data analysis, data interpretation, or writing of the manuscript.

  • Competing interests PAC reports grants, non-financial support and other from ResMed, grants, non-financial support and other from SomnoMed, grants and personal fees from Exploramed, personal fees and non-financial support from Zephyr Sleep Technologies, personal fees from NovoNordisk, other from Fisher & Paykel Healthcare, personal fees from Quintessence Publishing, personal fees from UpToDate, all outside the scope of the submitted work.

  • Patient consent Obtained.

  • Ethics approval Cantonal Ethics Committee Zurich.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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