Original Research: Sleep Disorders |

Sleep-Disordered Breathing in Ehlers-Danlos SyndromeSleep-Disorder Breathing and Ehlers Danlos: A Genetic Model of OSA

Christian Guilleminault, DM, MD, DBiol; Michelle Primeau, MD; Hsiao-yean Chiu, RN, MS; Kin Min Yuen, MD; Damien Leger, DM, DBiol; Arnaud Metlaine, DM
Author and Funding Information

From the Sleep Medicine Division (Drs Guilleminault, Primeau, and Yuen and Ms Chiu), Stanford University, Stanford Outpatient Medical Center, Redwood City, CA; and Centre de la vigilance (Drs Leger and Metlaine), Hopital de L’Hôtel-Dieu, Universite Paris-Descartes, Paris, France.

Correspondence to: Christian Guilleminault, DM, MD, DBiol, Sleep Medicine Division, Stanford University, Stanford Outpatient Medical Center, 450 Broadway, Redwood City, CA 94063; e-mail: cguil@stanford.edu

Funding/Support: The authors have reported to CHEST that no funding was received for this study.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians. See online for more details.

Chest. 2013;144(5):1503-1511. doi:10.1378/chest.13-0174
Text Size: A A A
Published online

Objectives:  The objective of this study was to investigate the presence of sleep-disordered breathing (SDB) in patients with Ehlers-Danlos syndrome. Ehlers-Danlos syndrome is a genetic disorder characterized by cartilaginous defects, including nasal-maxillary cartilages.

Methods:  A retrospective series of 34 patients with Ehlers-Danlos syndrome and complaints of fatigue and poor sleep were evaluated by clinical history, physical examination, polysomnography (PSG), and, in some cases, anterior rhinomanometry. Additionally, a prospective clinical investigation of nine patients with Ehlers-Danlos syndrome was performed in a specialized Ehlers-Danlos syndrome clinic.

Results:  All patients with Ehlers-Danlos syndrome evaluated had SDB on PSG. In addition to apneas and hypopneas, SDB included flow limitation. With increasing age, flow limitation decreased in favor of apnea and hypopnea events, but clinical complaints were similar independent of the type of PSG finding. In the subgroup of patients who underwent nasal rhinomanometry, increased nasal resistance was increased relative to normative values. Nasal CPAP improved symptoms. Patients with Ehlers-Danlos syndrome presenting to the medical clinic had symptoms and clinical signs of SDB, but they were never referred for evaluation of SDB.

Conclusions:  In patients with Ehlers-Danlos syndrome, abnormal breathing during sleep is commonly unrecognized and is responsible for daytime fatigue and poor sleep. These patients are at particular risk for SDB because of genetically related cartilage defects that lead to the development of facial structures known to cause SDB. Ehlers-Danlos syndrome may be a genetic model for OSA because of abnormalities in oral-facial growth. Early recognition of SDB may allow treatment with orthodontics and myofacial reeducation.

Figures in this Article

Sign In to Access Full Content

Want to Purchase a Subscription?

New to CHEST? Become an ACCP member to receive a full subscription to both the print and online editions.
Want to access your Institution's subscription?
Sign in to your individual user account while you are actively authenticated on this website via your institution (Learn more about institutional authentication). We will then sustain your personal access to their content/subscription for 90 days, after which you can repeat this process.

Sign In to Access Full Content

Want to Purchase a Subscription?

New to CHEST? Become an ACCP member to receive a full subscription to both the print and online editions.




Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).

Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

Find Similar Articles
CHEST Journal Articles
PubMed Articles
  • CHEST Journal
    Print ISSN: 0012-3692
    Online ISSN: 1931-3543