Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2023 Feb 22;18(1):36.
doi: 10.1186/s13023-023-02643-3.

Systematic review of health related-quality of life in adults with osteogenesis imperfecta

Darran Mc Donald  1 , Tara Mc Donnell  2 , Julie Martin-Grace  2 , Gerry Mc Manus  3 , Rachel K Crowley  4   5   6
Affiliations

Systematic review of health related-quality of life in adults with osteogenesis imperfecta

Darran Mc Donald et al. Orphanet J Rare Dis. .

Abstract

Background: Osteogenesis imperfecta (OI) is a rare, connective tissue disorder characterised by bone fragility, resulting in recurrent fractures and skeletal deformities. Extra-skeletal manifestations include dentinogenesis imperfecta, hearing abnormalities and lung disease. These co-morbidities combined with recurrent fractures can exert a significant impact on health-related quality of life (HR-QOL). It is important to assess HR-QOL throughout adulthood because the prevalence of some OI-specific complications increases with age.

Methods: PubMed, EMBASE and CENTRAL databases were searched on 2nd February 2022 to identify studies reporting quantitative assessments of HR-QOL in adults with OI. The primary endpoint was to determine the impact of an OI diagnosis on adult's HR-QOL. Secondary endpoints were to (i) examine how frequently various HR-QOL assessment tools were used (ii) identify differences in HR-QOL between OI types and (iii) investigate the determinants of HR-QOL in adults with OI. Search results were exported to Endnote where two reviewers independently conducted title/abstract and full-text reviews. Data from accepted studies were extracted into Microsoft Excel. A narrative synthesis was then undertaken.

Results: The review identified 17 studies with a total of 1,648 adults. The Short Form-36 (SF-36) was the most frequently reported HR-QOL assessment tool and was used in nine studies. Physical HR-QOL was reduced in adults with OI. Physical component scores (PCS) or individual physical domains of the SF-36 were lower in eight of nine studies. Mental component scores (MCS) were preserved in all six studies, however individual mental health domains of the SF-36 were reduced in some studies. The prevalence of anxiety/depression was relatively low in adults with OI. Those with type III OI had lower physical and respiratory HR-QOL but preserved mental HR-QOL compared with type I. The prevalence of fatigue and pain was higher in adults with OI compared with reference populations. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL.

Conclusion: OI in adulthood has a wide-ranging negative impact on HR-QOL. Physical and respiratory HR-QOL were lower, while the prevalence of pain and fatigue were higher than in reference populations. Mental HR-QOL was relatively preserved, although some deficits were identified. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL.

Keywords: Activities of daily life; Adult; Burden of disease; Health status; Health-related quality of life; Mental component score; Osteogenesis imperfecta; Physical component score; Quality of life; SF-36.

PubMed Disclaimer

Conflict of interest statement

The authors have no conflict of interest.

Figures

Fig. 1
Fig. 1
PRISMA diagram
See this image and copyright information in PMC

References

    1. Martin E, Shapiro JR. Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91–97. doi: 10.1007/s11914-007-0023-z. - DOI - PubMed
    1. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101–116. doi: 10.1136/jmg.16.2.101. - DOI - PMC - PubMed
    1. Bacon S, Crowley R. Developments in rare bone diseases and mineral disorders. Therap Adv Chronic Dis. 2018;9(1):51–60. doi: 10.1177/2040622317739538. - DOI - PMC - PubMed
    1. van Dijk FS, Byers PH, Dalgleish R, Malfait F, Maugeri A, Rohrbach M, Symoens S, Sistermans EA, Pals G. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet EJHG. 2012;20(1):11–19. doi: 10.1038/ejhg.2011.141. - DOI - PMC - PubMed
    1. Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of Osteogenesis Imperfecta. Bone. 2017;102:40–49. doi: 10.1016/j.bone.2017.02.004. - DOI - PMC - PubMed

Publication types