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Orphanet J Rare Dis. 2018 Dec 29;13(1):231. doi: 10.1186/s13023-018-0971-7.

Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study.

Author information

1
Department of Oral and Maxillofacial Diseases, University of Helsinki, P.O. Box 41, FI-00014, Helsinki, Finland. heidi.arponen@helsinki.fi.
2
Sleep Unit, Heart and Lung Center, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
3
Department of Otorhinolaryngology - Head and Neck Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
4
Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
5
Department of Oral and Maxillofacial Diseases, University of Helsinki, P.O. Box 41, FI-00014, Helsinki, Finland.
6
Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland.
7
Center for Molecular Medicine, Karolinska Institutet and Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Abstract

BACKGROUND:

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 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.

RESULTS:

We 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.

CONCLUSIONS:

Seeing 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.

KEYWORDS:

Fatigue; Hypoxia; Osteogenesis imperfecta; Osteoporosis; Sleep apnea

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