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

Front Endocrinol (Lausanne). 2024 Jan 11:14:1299232. doi: 10.3389/fendo.2023.1299232. eCollection 2023.

Abstract

Introduction: The present study aims to describe a large cohort of Italian patients affected by osteogenesis imperfecta, providing a picture of the clinical bony and non-bony features and the molecular background to improve knowledge of the disease to inform appropriate management in clinical practice.

Methods: A total of 568 subjects (from 446 unrelated Italian families) affected by osteogenesis imperfecta who received outpatient care at Istituto Ortopedico Rizzoli from 2006 to 2021 were considered in the present study.

Results: Skeletal and extraskeletal features were analyzed showing a lower height (mean z-scores equal to -1.54 for male patients and -1.47 for female patients) compared with the general Italian population. Half of the patient population showed one or more deformities, and most of the patients had suffered a relatively low number of fractures (<10). An alteration in the sclera color was identified in 447 patients. Similarly, several extraskeletal features, like deafness, dental abnormalities, and cardiac problems, were investigated. Additionally, inheritance and genetic background were evaluated, showing that most of the patients have a positive family history and the majority of pathogenic variants detected were on collagen genes, as per literature.

Conclusion: This study supports the definition of a clear picture of the heterogeneous clinical manifestations leading to variable severity in terms of skeletal and extra-skeletal traits and of the genetic background of an Italian population of osteogenesis imperfecta patients. In this perspective, this clearly highlights the crucial role of standardized and structured collection of high-quality data in disease registries particularly in rare disease scenarios, helping clinicians in disease monitoring and follow-up to improve clinical practice.

Keywords: bone fragility; brittle bone disease; collagen; extraskeletal manifestations; osteogenesis imperfecta; phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cross-Sectional Studies
  • Female
  • Fractures, Bone* / epidemiology
  • Humans
  • Italy / epidemiology
  • Male
  • Osteogenesis Imperfecta* / pathology
  • Phenotype

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This study was partly funded by the Fondazione del Monte di Bologna e Ravenna grant for the project “Intelligenza artificiale e registri di patologia: un approccio innovativo nella ricerca di biomarcatori diagnostici/prognostici nelle fragilità ossee” (PRWEB: 730262) and by the IRCCS Istituto Ortopedico Rizzoli project entitled “5x1000 anno 2019 (redditi 2018) for the project “Malattie muscoloscheletriche: dall’analisi fisiopatologica dei tessuti alla proposta di nuove strategie terapeutiche anche attraverso l’uso di algoritmi di Intelligenza Artificiale per una medicina di precisione”. Giovanni Trisolino was partly funded by the Italian Ministry of Health, RCR-2022-23682299 project, under the Italian Musculoskeletal Apparatus Network RAMS.