Adverse health outcomes across the life course in individuals with six rare bone diseases: a 10-year population-based cohort study

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ID: 327431
2026
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Abstract
Abstract Background Rare bone diseases comprise a heterogeneous group of complex and disabling conditions. Evidence on age-specific hospitalization patterns and in-hospital outcomes across multiple rare bone diseases is limited. Methods Population-based cohort study using national hospitalization data (01/2012–12/2021). Among 11,092,151 hospitalizations, 2,875 admissions of children and adults with rare bone diseases were identified via ICD-10 codes (X-linked hypophosphatemia, osteogenesis imperfecta, fibrous dysplasia, achondroplasia, pseudohypoparathyroidism, fibrodysplasia ossificans progressiva) and compared with 14,375 age-, sex-, and patient-complexity–matched hospitalizations from the general population. Results Hospitalization patterns differed substantially by disease and age. Patients with X-linked hypophosphatemia had an increased risk of emergency admissions in late adulthood, whereas planned admissions were more frequent in early adulthood among patients with achondroplasia and fibrous dysplasia. Malignancies were diagnosed in 22.7% of patients with X-linked hypophosphatemia, and fractures were the leading cause of hospitalization among patients with osteogenesis imperfecta. Across the rare bone diseases, patients had higher all-cause in-hospital mortality compared with matched controls (RR, 2.26; 95% CI, 1.77 to 2.89), longer hospital stays (median difference, 6 days [IQR 3-13 days]), higher risk of ICU admission (RR, 3.08; 95% CI, 2.78 to 3.40), and higher readmission risk (RR, 1.31, 95% CI, 1.15 to 1.49). Conclusions The studied rare bone diseases are associated with distinct, disease-specific hospitalization patterns and substantially worse in-hospital outcomes across the lifespan. This underscores the need for tailored preventive strategies and coordinated, long-term care models for patients with rare bone diseases.
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Authors Pascal Gaechter, Christian Meier, Emanuel Christ, Fahim Ebrahimi, Alexander Kutz, Gabor Szinnai
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Journal european journal of endocrinology
Year 2026
DOI
10.1093/ejendo/lvag171
URL
https://doi.org/10.1093/ejendo/lvag171
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