Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta

  • Masaki MatsushitaEmail author
  • Kenichi Mishima
  • Satoshi Yamashita
  • Nobuhiko Haga
  • Sayaka Fujiwara
  • Keiichi Ozono
  • Takuo Kubota
  • Taichi Kitaoka
  • Naoki Ishiguro
  • Hiroshi Kitoh
Original Article


Osteogenesis imperfecta (OI) is a connective tissue disease with bone fragility. Several studies have indicated that physical function in adult OI was correlated to the disease severity, but there have been no reports delineating the impact of the fracture characteristics and disease-specific complications on health-related quality of life (HRQoL). The purpose of this study is to clarify the factors impacted on HRQoL in adult OI patients. We conducted a cross-sectional study between July 2016 and March 2018 and sent a questionnaire regarding HRQoL using Short Form-36 (SF-36) to the OI patients at the age of 20 years or older who had a medical history of the investigators’ institutions. The 40 patients completely answered the SF-36. Mental component summary and role/social component summary were unremarkable. Physical component summary (PCS) was significantly associated with z-score for height, teeth abnormality, and cardiopulmonary insufficiency (partial regression coefficient, 3.04, − 9.70, and − 11.35; p, < 0.001, 0.047, and 0.025, respectively). PCS was also significantly lower in the patients who had an initial fracture before the age of 2 years than those without occurrence of fractures until 2 years old (25.80 ± 17.15 versus 44.20 ± 16.54; p = 0.002), or those who had lower extremity fractures more than five times as compared with normal populations. Physical function was decreased in OI patients who had fractures before 2 years old, especially in lower extremity. Appropriate medical managements for cardiopulmonary insufficiency are required not only to maintain physical function but also to decrease mortality.


Osteogenesis imperfecta SF-36 Quality of life Fracture Cardiopulmonary insufficiency 



This work was supported by Health Labour Sciences Research Grants, the Ministry of Health, Labour and Welfare, Japan.

Compliance with ethical standards

Conflict of interest

Each author certifies that he or she has no commercial associations that might pose a conflict of interest in connection with the submitted article.

Ethical approval

This study was approved by institutional review board of our institutions (reference number: 2015-0412).

Informed consent

We obtained informed consent from all participant patients.

Supplementary material

774_2019_1033_MOESM1_ESM.docx (28 kb)
Supplementary material 1 (DOCX 28 kb)
774_2019_1033_MOESM2_ESM.docx (28 kb)
Supplementary material 2 (DOCX 27 kb)


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Copyright information

© The Japanese Society Bone and Mineral Research and Springer Japan KK, part of Springer Nature 2019

Authors and Affiliations

  • Masaki Matsushita
    • 1
    Email author
  • Kenichi Mishima
    • 1
  • Satoshi Yamashita
    • 2
  • Nobuhiko Haga
    • 3
  • Sayaka Fujiwara
    • 3
  • Keiichi Ozono
    • 4
  • Takuo Kubota
    • 4
  • Taichi Kitaoka
    • 4
  • Naoki Ishiguro
    • 1
  • Hiroshi Kitoh
    • 1
    • 5
  1. 1.Department of Orthopaedic SurgeryNagoya University Graduate School of MedicineNagoyaJapan
  2. 2.Medical IT CenterNagoya University HospitalNagoyaJapan
  3. 3.Department of Rehabilitation Medicine, Graduate School of MedicineThe University of TokyoTokyoJapan
  4. 4.Department of PediatricsOsaka University Graduate School of MedicineOsakaJapan
  5. 5.Department of Orthopaedic SurgeryAichi Children’s Health and Medical CenterObuJapan

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