Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study

• Published in: Orphanet journal of rare diseases Vol. 16; no. 1; p. 156
• Main Authors: Fredwall, Svein O, Øverland, Britt, Berdal, Hanne, Berg, Søren, Weedon-Fekjær, Harald, Lidal, Ingeborg B, Savarirayan, Ravi, Månum, Grethe
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 07.04.2021; BioMed Central; BMC
• Subjects: Achondroplasia; Adults; Apnea; Blood pressure; Body mass index; Complications and side effects; Craniofacial abnormalities; Hypertension; Investigations; Medical research; Obesity; Obstructive sleep apnea; Population; Population studies; Population-based studies; Questionnaires; Rare diseases; Registration; Risk factors; Sleep; Sleep and wakefulness; Sleep apnea; Sleep apnea syndromes; Sleep disorders; Sleep-disordered breathing; Statistics; Norway; Hypertension; Body mass index; Craniofacial abnormalities; Obstructive sleep apnea; Sleep-disordered breathing
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-021-01792-7

Previous studies have found a high prevalence of obstructive sleep apnea (OSA) in children with achondroplasia, but clinical studies on this complication in adults with achondroplasia are lacking. This population-based, cross-sectional study investigated the prevalence, severity, and predictive factors of OSA in Norwegian adults with achondroplasia. We collected clinical data on 49 participants. Participants without a preexisting diagnosis of OSA had an overnight sleep registration. OSA was defined as an apnea-hypopnea index (AHI) ≥ 5 plus characteristic clinical symptoms, or AHI ≥ 15. We used the Berlin Questionnaire to assess clinical symptoms of OSA. OSA was found in 59% (29/49) of the participants (95% confidence interval 44 to 73%), of whom 59% (17/29) had moderate to severe OSA (AHI ≥ 15), and 48% (14/29) were previously undiagnosed. Variables predictive of OSA were: excessive daytime sleepiness; unrested sleep; loud snoring; observed nocturnal breathing stops; hypertension; age > 40 years; and BMI > 30 kg/m . OSA was highly prevalent in Norwegian adults with achondroplasia, which we believe is representative of this population worldwide. Follow-up of adults with achondroplasia should include assessment of symptoms and signs of OSA, with a low threshold for conducting an overnight sleep registration if findings suggestive of OSA are present.