Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder of the bones caused by a mutation in Type I collagen genes. As adults with OI are aging, medical concerns secondary to OI may arise. This integrative review sought to review, appraise, and synthesize the clinical manifestations faced by adults with OI. Four electronic bibliographic databases were searched. Published quantitative, qualitative, and mixed‐methods studies, as well as case reports from 2000 to March 2019, addressing a clinical manifestation in adulthood, were reviewed. Eligible studies and case reports were subsequently appraised using the Mixed Methods Appraisal Tool and Case Report Checklist, respectively. Twenty quantitative studies and 88 case reports were included for review regardless of the varying methodological quality score. These studies collectively included 2,510 adults with different OI types. Several clinical manifestations were studied, and included: hearing loss, cardiac diseases, pregnancy complications, cerebrovascular manifestations, musculoskeletal manifestations, respiratory manifestations, vision impairment, and other clinical manifestations. Increased awareness may optimize prevention, treatment, and follow‐up. Opportunities to enhance the methodological quality of research including better design and methodology, multisite collaborations, and larger and diverse sampling will optimize the generalizability and transferability of findings.

Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients

“…Despite debate in the literature, the present data are in line with several other large OI cohorts, with a slightly higher prevalence in female than male patients ( 1 , 16 ). Similarly, the distribution of OI patients to the different OI types shows a very high prevalence of type I cases followed by the other types ( 1 , 17 ).…”

Eat, breathe, sleep with Osteogenesis Imperfecta

“…Our results put in evidence that OI is not only a bone-related disease, but it has also important implications on other disciplines due to its intrinsic characteristics. These results suggest that experts in breathing, in sleep and in nutrition must be part of the multidisciplinary team that should follow an OI patient, particularly in the most severe form [ 54 , 55 ].…”

Dysregulation of MicroRNAs in Adult Osteogenesis Imperfecta: The miROI Study

“…There is a lack of correlation between genetics and the variability of extra‐osseous manifestations of OI that impact the severity and the prognosis, such as deafness, cardiovascular disease, hyperlaxity, scoliosis, dentinogenesis imperfecta, and ophthalmologic impairments. [ 10 ] Gene expression is also strongly modulated by epigenetic regulations, leading to characteristic gene expression profiles linked to clinical outcomes. Changes in the expression of micro‐RiboNucleic Acids (miRNAs), which are endogenous regulators of transcription, may explain, at least partly, phenotypic variability.…”