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ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2024

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

Chien-An Shih, Chia-Chun Li, Yin-Fan Chang, Jawl-Shan Hwang, Meng-Che Tsai, Yen-Yin Chou, Chii-Jeng Lin, Ming-Tung Huang, Chih-Kai Hong, Ta-Wei Tai and 1 more

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Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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11 authors.

Chien-An Shih *Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chia-Chun Li *Institute of Allied Health Sciences, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Yin-Fan ChangDepartment of Family Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Jawl-Shan HwangDivision of Endocrinology and Metabolism, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.
Meng-Che TsaiDepartment of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Yen-Yin ChouDepartment of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chii-Jeng LinDepartment of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Ming-Tung HuangDepartment of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Chih-Kai HongDepartment of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Ta-Wei TaiDepartment of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. david0803@gmail.com.
Chih-Hsing WuDepartment of Family Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan. paulo@mail.ncku.edu.tw.ORCID http://orcid.org/0000-0002-0504-2053

Funding

Ministry of Science and Technology MOST 108-2314-B-006-043-MY2Ministry of Science and Technology MOST 110-2314-B-006-054-MY2National Cheng Kung University Hospital NCKUH-11303051National Science and Technology Council NSTC 111-2314-B-006-117National Science and Technology Council NSTC 112-2314-B-006-072
6 · The paper itself

Abstract

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.

introductionThis 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.

methodsThe 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.

results319 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.

conclusionThis 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.

Indexed as

Databases, FactualOsteogenesis ImperfectaAdolescentAdultAge DistributionChildChild, PreschoolComorbidityCost of IllnessFemaleHospitalizationHumansIncidenceInfantInfant, NewbornLength of StayEpidemiologyFractureMortalityOsteogenesis imperfectaReal-world evidence

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.