title: Fracture Rates and Fracture Sites in Patients With Osteogenesis Imperfecta: A Nationwide Register-Based Cohort Study.
abstract: Osteogenesis imperfecta (OI) is a hereditary, clinically heterogeneous, connective tissue disorder. The population prevalence of OI in Denmark is 10.6 in 100,000. A hallmark of the disease is frequent fractures that are often precipitated by minimal trauma. The aim of the current study was to compare the fracture rates across the lifespan of patients with OI with that of a reference population from the general population. The present study was a Danish nationwide, population-based, cohort study using register data. We identified 644 (55.6% females) patients in the OI cohort through the Danish National Patient Register and 3361 (55.2% females) persons, randomly selected from the Civil Registry System. A total of 416 patients with OI experienced a total of 1566 fractures during the observation period of median 17.9 years (interquartile range [IQR], 12.4 to 18.0 years), summing to 10137 person years. In comparison, 709 persons in the reference population experienced a total of 1018 fractures during follow-up. Both male and female patients with OI had an increased fracture rate throughout their life. The fracture rate ratio for participants aged 0 to 19 years was 10.7, for participants aged 20 to 54 years 17.2, and for participants aged 55 years and over 4.1 when compared to the reference population. The highest fracture rate was seen in males with OI aged 0 to 19 years (257 fractures per 1000 person-years). The fractures appear to follow the same pattern as in the general population, with a peak during the toddler and adolescent years (incidence rate [IR] 233.9 per 1000 person years), fewer fractures during adulthood (IR 84.5 per 1000 person years), and increased fracture rates in older women (IR 111.9 per 1000 person years). This is the largest register-based nationwide study on the fracture epidemiology of patients with OI. The risk of fractures seems largest in the childhood and adolescent years, and the relative risk of fracture declines with age in patients with OI compared to the general population. © 2016 American Society for Bone and Mineral Research.
authors.affiliation: Department of Endocrinology, Odense University Hospital, Odense, Denmark.|Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.|Department of Endocrinology, Hospital of Southwest Denmark, Esbjerg, Denmark.
authors.forename: Lars
authors.initials: L
authors.lastname: Folkestad
authors.affiliation: Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Jannie Dahl
authors.initials: JD
authors.lastname: Hald
authors.affiliation: National Institute of Public Health, University of Southern Denmark, Copenhagen, Denmark.
authors.forename: Annette Kjaer
authors.initials: AK
authors.lastname: Ersbøll
authors.affiliation: Department of Endocrinology, Hospital of Southwest Denmark, Esbjerg, Denmark.
authors.forename: Jeppe
authors.initials: J
authors.lastname: Gram
authors.affiliation: Department of Endocrinology, Odense University Hospital, Odense, Denmark.
authors.forename: Anne Pernille
authors.initials: AP
authors.lastname: Hermann
authors.affiliation: Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.
authors.forename: Bente
authors.initials: B
authors.lastname: Langdahl
authors.affiliation: Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.|Department of Internal Medicine, Holbaek Hospital, Holbaek, Denmark.|Odense Exploratory Patient Network (OPEN), Holbaek, Denmark.
authors.forename: Bo
authors.initials: B
authors.lastname: Abrahamsen
authors.affiliation: Institute of Clinical Research, University of Southern Denmark, Odense, Denmark.
authors.forename: Kim
authors.initials: K
authors.lastname: Brixen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003718:Denmark / Q000453:epidemiology; D005260:Female; D050723:Fractures, Bone / Q000150:complications* / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000150:complications* / Q000453:epidemiology*; D012016:Reference Values; D012042:Registries; D055815:Young Adult
keywords: COLLAGEN; EPIDEMIOLOGY; FRACTURE RATES; OSTEOGENESIS IMPERFECTA; RARE BONE DISEASES; REGISTER-BASED STUDIES