Sleep-disordered-breathing in Ehlers–Danlos syndrome (a genetic model of obstructive sleep apnea)

Introduction Investigation of presence of sleep-disordered-breathing (SDB) and its cause in Ehlers–Danlos-(ED) Syndrome patients. ED is a genetic disorder characterized by cartilaginous defects including the nasal-maxillary cartilages. Materials and methods Retrospective series of 34 ED patients presenting to a sleep medicine clinic with complaints of fatigue and poor sleep, evaluated using clinical history, physical examination, polysomnography (PSG) and in a subgroup with anterior rhinometry. Prospective clinical investigation of 9 ED patients followed in a specialized medical ED clinic. Results All sleep clinic patients had SDB on PSG. SDB included sleep-apnea and hypopnea but also flow limitation; there was an inverse relationship between age of subjects and amount of flow limitation versus apnea–hypopnea during sleep but clinical complaints were similar independent of abnormal polysomnographic finding. Of the subgroup of patients on whom nasal rhinometry was obtained, increased nasal resistance was noted relative to normative values. Nasal CPAP importantly improved symptoms of patients. ED patients in medical clinic presented symptoms and clinical signs of SDB but were never referred for evaluation of SDB. Conclusion In ED patients, abnormal breathing during sleep is commonly unrecognized and is responsible for daytime fatigue and poor sleep. ED patients are at particular risk for SDB due to genetically related cartilage defects causing these patients to develop facial structures known to cause SDB. ED may be a genetic model for obstructive sleep apnea because of abnormalities of oral-facial growth. Early recognition of SDB may allow treatment with orthodontics and myofacial reeducation.