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Demographics and medical burden of osteogenesis imperfecta: a nationwide database analysis

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Abstract

Summary

The epidemiological data on osteogenesis imperfecta (OI) in Asia is limited. This study, representing the first comprehensive epidemiological investigation on OI in Taiwan, reveals high medical resource utilization and underscores the importance of early diagnosis to enhance care quality.

Introduction

This study examines osteogenesis imperfecta, a hereditary connective tissue disorder causing pediatric fractures and limb deformities, using a nationwide database from Taiwan to analyze clinical features and medical burden.

Methods

The study identified validated OI patients from the Catastrophic Illness Registry in the National Health Insurance Research Database from 2008 to 2019. Demographic data and medical resource utilization were analyzed. A multivariate Cox model assessed the influence of sex, validation age, and comorbidities.

Results

319 OI patients (M/F = 153/166) were identified, with 58% validated before age 20. Prevalence and incidence were 0.8–1.3/100,000 and 0.02–0.09/100,000, respectively, with higher rates in the pediatric demographic. In the study period, 69.6% of the patients had admission history, primarily to pediatric and orthopedic wards. The median admission number was 3, with a median length of stay of 12 days and a median inpatient cost of approximately 3,163 USD during the period. Lower limb fractures were the main reason for hospitalization. 57% of OI patients received bisphosphonate treatment. The leading causes of mortality were OI-related deaths, neurovascular disease, and cardiovascular disease. The median age of validation in the non-survival group was significantly higher compared to the survival group (33 vs. 14 years), and patients validated during childhood required more inpatient fracture surgeries than those validated during adulthood.

Conclusion

This study provides comprehensive real-world evidence on the clinical characteristics and high medical resource utilization of OI patients in a low prevalence region like Taiwan. Early diagnosis is crucial for improving care quality and enhancing health outcomes.

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Data availability

All data presented in the manuscript can be found in Taiwan’s National Health Insurance Research Database (NHIRD).

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Acknowledgements

We are grateful to the Health Data Science Center, National Cheng Kung University Hospital, for providing administrative and technical support.

Funding

The study received support from the National Science and Technology Council (Ministry of Science and Technology) under grant numbers MOST 108–2314-B-006–043-MY2 and MOST 110–2314-B-006–054-MY2 (recipient: CH Wu); NSTC 112–2314-B-006–072 (recipient: CJ Lin); and NSTC 111–2314-B-006–117 (recipient: CA Shih). Additionally, it was supported by the National Cheng Kung University Hospital under grant number NCKUH-11303051 (recipient: CA Shih).

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Author notes

  1. Chien-An Shih and Chia-Chun Li contributed equally to this work.

Authors and Affiliations

  1. Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan

    Chien-An Shih, Chii-Jeng Lin, Ming-Tung Huang, Chih-Kai Hong & Ta-Wei Tai

  2. Medical Device R & D Core Laboratory, National Cheng Kung University Hospital, Tainan, Taiwan

    Chien-An Shih, Chii-Jeng Lin & Ta-Wei Tai

  3. Department of Orthopedics, College of Medicine, National Cheng Kung University, Tainan, Taiwan

    Chien-An Shih & Chii-Jeng Lin

  4. Institute of Allied Health Sciences, College of Medicine, National Cheng Kung University, Tainan, Taiwan

    Chia-Chun Li

  5. Department of Family Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan

    Chia-Chun Li, Yin-Fan Chang & Chih-Hsing Wu

  6. Division of Endocrinology and Metabolism, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan

    Jawl-Shan Hwang

  7. Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan

    Meng-Che Tsai & Yen-Yin Chou

  8. Department of Orthopedics, Show Chwan Memorial Hospital, Changhua, Taiwan

    Chii-Jeng Lin

  9. Institute of Gerontology, College of Medicine, National Cheng Kung University, Tainan, Taiwan

    Yin-Fan Chang & Chih-Hsing Wu

  10. Department of Family Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan

    Yin-Fan Chang & Chih-Hsing Wu

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  1. Chien-An Shih
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  2. Chia-Chun Li
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Corresponding authors

Correspondence to Ta-Wei Tai or Chih-Hsing Wu.

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Ethical approval

The study was approved by the Institutional Review Board (IRB) of the National Cheng Kung University Hospital (NCKUH) (IRB No. B-ER-109–416) and ClinicalTrials.gov (No. NCT05367115).

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Shih, CA., Li, CC., Chang, YF. et al. Demographics and medical burden of osteogenesis imperfecta: a nationwide database analysis. Osteoporos Int (2024). https://doi.org/10.1007/s00198-024-07051-2

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