Systematic Review of Health Related-Quality of Life in Adults with Osteogenesis Imperfecta

Abstract

BackgroundOsteogenesis 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 restrictive 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 have a clear understanding of HR-QOL throughout adulthood as some OI specific complications increase with age.MethodsPubMed, EMBASE and CENTRAL databases were searched in February 2022 to identify studies reporting quantitative assessments of HR-QOL in adults with OI. The primary endpoint was to determine the impact of a diagnosis of OI on an adult’s HR-QOL. Secondary endpoints were (i) to examine how frequently various HR-QOL assessment tools were used (ii) identify differences in HR-QOL between OI types and (iii) to 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. ResultsThe review identified 17 studies with a total of 1,648 adults. The Short Form-36 (SF-36) was the most widely reported HR-QOL assessment tool, 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 3 OI, had lower physical and respiratory HR-QOL but preserved mental HR-QOL compared with type 1. The prevalence of fatigue and pain were higher in adults with OI. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL. ConclusionOI has an extensive and wide ranging impact on adult HR- QOL. Physical and respiratory HR-QOL were lower, while the prevalence of pain and fatigue were higher than reference populations. Mental HR-QOL was relatively preserved. Age and cardio-pulmonary co-morbidities were associated with lower HR-QOL.