Adverse health outcomes across the life course in individuals with six rare bone diseases: a 10-year population-based cohort study.
This 10-year population-based hospitalization study reports disease- and age-specific admission patterns and higher mortality, ICU use, length of stay, and readmission among people with six rare bone diseases compared with matched general-population hospitalizations.
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This 10-year population-based hospitalization study reports disease- and age-specific admission patterns and higher mortality, ICU use, length of stay, and readmission among people with six rare bone diseases compared with matched general-population hospitalizations.
Research significance
The evidence identifies elevated hospital burden and a reported malignancy frequency of 22.7% among patients with X-linked hypophosphatemia; it is an untested inference that validated risk stratification, tailored surveillance, or coordinated long-term care could improve outcomes, and the record does not establish an oncology intervention or causal cancer association.
Source 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.