Obstruktiv søvnapné hos norske voksne med akondroplasi

Forskere fra Sunnaas sykehus, Universitetet i Oslo, Lovisenberg Diakonale Sykehus, Oslo universitetssykehus og University of Melbourne har i denne studien undersøkte prevalens, alvorlighetsgrad og prediktive faktorer for obstruktiv søvnapné (OSA) hos 49 norske voksne med kortvoksthet (akondroplasi) ved hjelp av en natts søvnregistrering. Tidligere studier har funnet en høy forekomst av OSA hos barn med akondroplasi, men kliniske studier hos voksne med akondroplasi mangler. Studien konkluderer med at OSA var svært utbredt i denne pasientgruppen. Oppfølging av voksne med akondroplasi bør omfatte vurdering av symptomer og tegn på OSA, med en lav terskel for å gjennomføre søvnregistrering hvis symptomer på OSA finnes.

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

Svein O Fredwall, Britt Øverland, Hanne Berdal, Søren Berg, Harald Weedon-Fekjær, Ingeborg B Lidal, Ravi Savarirayan, Grethe Månum

Studien er publisert i  Orphanet Journal of Rare Diseases

Background: 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.
Objectives: This population-based, cross-sectional study investigated the prevalence, severity, and predictive factors of OSA in Norwegian adults with achondroplasia.
Methods: 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.
Results: 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/m2.
Conclusion: 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.