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Published in: Calcified Tissue International 5/2017

01-11-2017 | Original Research

Health-Related Quality of Life in Adults with Osteogenesis Imperfecta

Authors: Jannie Dahl Hald, Lars Folkestad, Torben Harsløf, Kim Brixen, Bente Langdahl

Published in: Calcified Tissue International | Issue 5/2017

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Abstract

Osteogenesis imperfecta (OI) is a systemic connective tissue disorder most often caused by mutations in collagen type 1 related genes. Patients with OI suffer from multiple fractures and various degrees of growth deficiency and bone deformity. It is unknown whether the systemic effect of defect collagen type 1 influences the quality of life in patients with OI. We therefore aimed to investigate health-related quality of life (HRQoL) in a well-characterized cohort of adult patients with OI. We included 85 adult patients with mild to severe OI (types I, III, and IV) and obtained information about skeletal- and non-skeletal phenotypes and patient demographics. We investigated physical and mental HRQoL using a validated questionnaire, SF-36, and compared the data to values obtained in a population without OI. Patients with mild, moderate, and severe OI all had lower mean scores on domains describing physical HRQoL and a lower mean physical component score compared to the general population, p < 0.001. Patients with severe OI had lower mean scores on physical HRQoL, p < 0.05. The scores on domains reflecting mental HRQoL were more inhomogenously affected, but did not differ significantly from the general population. OI has an impact on physical and some aspects of mental HRQoL. The scores on physical health were correlated to severity of the OI disease. The mental component score in the OI patients was unaffected and comparable with the general population.
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Metadata
Title
Health-Related Quality of Life in Adults with Osteogenesis Imperfecta
Authors
Jannie Dahl Hald
Lars Folkestad
Torben Harsløf
Kim Brixen
Bente Langdahl
Publication date
01-11-2017
Publisher
Springer US
Published in
Calcified Tissue International / Issue 5/2017
Print ISSN: 0171-967X
Electronic ISSN: 1432-0827
DOI
https://doi.org/10.1007/s00223-017-0301-4

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