Abstract
BackgroundPatients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen. OI is also characterized by numerous co-morbidities, and recent data from questionnaire studies suggest that these may include increased risk for sleep apnea, a finding that lacks clinical evidence from cohort studies. In this cross-sectional study, 25 adults with OI underwent clinical otorhinolaryngology examination as well as overnight polysomnography to address the question. The participants were aged between 19 and 77 years, and ten of them had mild clinical OI phenotype, seven had a moderately severe phenotype, and eight had a severe phenotype.ResultsWe found obstructive sleep apnea (apnea hypopnea index ≥5/h) in as many as 52% of the OI patients in the cohort. Unexpectedly, however, no correlation was present between sleep apnea and daytime sleepiness, experienced bodily pain, severity of OI, Mallampati score, or neck circumference.ConclusionsSeeing that the usual predictors showed no association with occurrence of sleep apnea, we conclude that obstructive sleep apnea may easily be left as an undetected disorder in individuals with OI. Recurrent nocturnal hypoxia due to episodes of apneas can even affect bone metabolism, thereby further aggravating bone fragility in patients with OI.
Highlights
Patients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen
The possible bidirectional causality between disorders of bone metabolism and sleep apnea, remains, to the best of our knowledge, unexplored. In this single-center cross-sectional study, we examined adults with OI clinically and performed an overnight polysomnography to test the hypothesis that undiagnosed central or obstructive sleep apnea is common in this group of patients
When an increase in Apnea-hypopnea index (AHI) was predicted, we found that high body mass index (BMI) was a Epworth Sleepiness Scale (ESS) depression questionnaire (DEPS) Pain Neck circumference Mallampati score Uvula grade Tonsil size Pharyngeal webbing Tongue base LAFH SN/MP
Summary
Patients with Osteogenesis imperfecta (OI) suffer from increased bone fracture tendency generally caused by a mutation in genes coding for type I collagen. OI is characterized by numerous co-morbidities, and recent data from questionnaire studies suggest that these may include increased risk for sleep apnea, a finding that lacks clinical evidence from cohort studies. In this cross-sectional study, 25 adults with OI underwent clinical otorhinolaryngology examination as well as overnight polysomnography to address the question. Sleep apnea might be one explanatory factor, and self-reported prevalence of sleep apnea among adult OI populations in US and Finland has been similar, 14–15% [1, 3], being higher than in normal population [4] Cohort studies supporting this finding or reporting the actual prevalence of sleep apnea in patients with OI have not, been published
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