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.
Highlights
Osteogenesis imperfecta (OI) is a hereditary, connective tissue disorder caused by mutations in the genes involved in the biosynthesis or post-transcription modification of collagen type 1.(1) The population prevalence of OI in Denmark has previously been shown to be 10.6 in 100,000.(2) The clinical severity of the disease varies from mild, with few or no signs of the disease, to perinatally lethal phenotypes.[3]
The highest fracture rate was seen in males with OI aged 0 to 19 years (257 fractures per 1000 person-years)
Our study included 644 patients and appears to be the largest published population-based study aimed at evaluating fracture rates in patients with OI
Summary
Osteogenesis imperfecta (OI) is a hereditary, connective tissue disorder caused by mutations in the genes involved in the biosynthesis or post-transcription modification of collagen type 1.(1) The population prevalence of OI in Denmark has previously been shown to be 10.6 in 100,000.(2) The clinical severity of the disease varies from mild, with few or no signs of the disease, to perinatally lethal phenotypes.[3]A hallmark of the disease is frequent fractures that are often precipitated by minimal trauma.[4]. Since 1995 all outpatient clinic and emergency visits have been included in this register.[10] NPR has a coverage above 99%, and the overall positive predictive value of a diagnosis in the register is above 95%.(11) the Danish healthcare system is—with few minor exceptions that do not apply to fracture care—uniform, taxfinanced, and covers all residents. Together, these conditions allow complete ascertainment and long-term follow-up of clinical conditions.[12] Study objectives. Knowledge about fracture rates in patients with OI, under the current treatment regimen in Denmark, will aid the physicians’ decisions in whom and how to treat patients with OI and give valuable information about what to expect from the current fracture prophylaxis regimes
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