Risk of pulmonary diseases in osteogenesis imperfecta in Denmark - A register-based cohort study

Osteogenesis Imperfecta (OI) is a rare hereditary disease mainly resulting in reduced or altered collagen type I. Collagen type I is a major constituent of the respiratory system, and normal collagen type I is vital for the pulmonary tissue function. Does patient with OI have increased admission rates due to pulmonary diseases compared to the general population? This is a register-based, nationwide, cohorts study, including all patients with OI in Denmark and a reference population. From 1 of January 1995 until the 31 of December 2018, we evaluated the rates of admissions due to asthma, chronic obstructive pulmonary disease (COPD) and pneumonia as well as the use of broncodilatator drugs and antibiotics comparing individuals with OI to the reference population. We included 862 individuals with OI and 4,283 persons in the reference population covering 15952 and 79471 person years of observation respectively in the two cohorts. Admissions rate (IR) was highest in women with OI aged 65+ years with 56.3 admissions per 1000 person years and 29.4 admissions per 1000 person years in the reference population (amounting to an admissions rate ratio (IRR) 1.91 [95%CI 1.38-2.70]) . The highest admission rate in men with OI was found amongst the participants aged 0-18 years IR 30.4 per 1,000 person years and IR 7.7 per 1,000 person years in the reference population (IRR 4.92 [3.79-6.38]). We found a higher proportion of long and short acting broncodilatator drug users in the OI cohort, but no increased use of antibiotics. Overall, the admission rates for respiratory diseases were low in the OI cohort, but a higher relative risk of hospitalizations due to respiratory disease than in the general population. Timely diagnosis and treatment of respiratory complications in individuals with OI is warranted.