The prognosis for patients with OI depends on the severity of their condition (depending on the type of OI and underlying genetic variant) and the treatment given. Physical health-related quality of life is lower in individuals with OI as compared with the reference population.[92]Murali CN, Cuthbertson D, Slater B, et al. Pediatric outcomes data collection instrument is a useful patient-reported outcome measure for physical function in children with osteogenesis imperfecta. Genet Med. 2020 Mar;22(3):581-9.
https://www.gimjournal.org/article/S1098-3600(21)01254-5/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/31772349?tool=bestpractice.com
[93]Murali CN, Slater B, Musaad S, et al. Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 Jun;99(6):772-9.
http://www.ncbi.nlm.nih.gov/pubmed/33580568?tool=bestpractice.com
People with the more severe forms of OI have significantly lower physical health-related quality of life compared with those who have mild OI (such as type I). People with OI type I typically have a normal life span, whereas those with severe types of OI have increased mortality and morbidity.[11]Marini JC, Dang Do AN. Osteogenesis imperfecta. In: Feingold KR, Anawalt B, Blackman MR, et al, eds. Endotext [Internet]. South Dartmouth, MA: MDText.com, Inc; 2020 Jul 26.
https://www.ncbi.nlm.nih.gov/books/NBK279109
http://www.ncbi.nlm.nih.gov/pubmed/25905334?tool=bestpractice.com
Infants with type II OI may be stillborn or die within the first few months of life.[42]Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop Relat Res. 1981 Sep;(159):11-25.
http://www.ncbi.nlm.nih.gov/pubmed/7285446?tool=bestpractice.com
In a population and register-based cohort study conducted in Denmark, the all-cause mortality hazard ratio between individuals with OI and the reference population was 2.90.[44]Folkestad L, Hald JD, Canudas-Romo V, et al. Mortality and causes of death in patients with osteogenesis imperfecta: a register-based nationwide cohort study. J Bone Miner Res. 2016 Dec;31(12):2159-66.
https://academic.oup.com/jbmr/article/31/12/2159/7605118
http://www.ncbi.nlm.nih.gov/pubmed/27345018?tool=bestpractice.com
The median survival time for males with OI was 72.4 years, versus 81.9 years in the reference population. The median survival time for females with OI was 77.4 years, compared with 84.5 years in the reference population.[44]Folkestad L, Hald JD, Canudas-Romo V, et al. Mortality and causes of death in patients with osteogenesis imperfecta: a register-based nationwide cohort study. J Bone Miner Res. 2016 Dec;31(12):2159-66.
https://academic.oup.com/jbmr/article/31/12/2159/7605118
http://www.ncbi.nlm.nih.gov/pubmed/27345018?tool=bestpractice.com
Patients with OI have a higher risk of death from respiratory diseases and trauma.[11]Marini JC, Dang Do AN. Osteogenesis imperfecta. In: Feingold KR, Anawalt B, Blackman MR, et al, eds. Endotext [Internet]. South Dartmouth, MA: MDText.com, Inc; 2020 Jul 26.
https://www.ncbi.nlm.nih.gov/books/NBK279109
http://www.ncbi.nlm.nih.gov/pubmed/25905334?tool=bestpractice.com
[44]Folkestad L, Hald JD, Canudas-Romo V, et al. Mortality and causes of death in patients with osteogenesis imperfecta: a register-based nationwide cohort study. J Bone Miner Res. 2016 Dec;31(12):2159-66.
https://academic.oup.com/jbmr/article/31/12/2159/7605118
http://www.ncbi.nlm.nih.gov/pubmed/27345018?tool=bestpractice.com
[45]Chaney H, Mekking D, De Bakker D, et al. Key4OI recommendations for lung function guidance in osteogenesis imperfecta: based on an internationally performed comprehensive international consortium for health outcomes measurement procedure. Chest. 2023 May;163(5):1201-13.
https://journal.chestnet.org/article/S0012-3692(23)00039-9/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/36640996?tool=bestpractice.com
[46]Yonko EA, Emanuel JS, Carter EM, et al. Respiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalities. Arch Osteoporos. 2020 Oct 2;15(1):153.
http://www.ncbi.nlm.nih.gov/pubmed/33009598?tool=bestpractice.com
[47]Storoni S, Treurniet S, Micha D, et al. Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review. Ann Med. 2021 Dec;53(1):1676-87.
https://www.tandfonline.com/doi/full/10.1080/07853890.2021.1980819
http://www.ncbi.nlm.nih.gov/pubmed/34569391?tool=bestpractice.com
[48]McAllion SJ, Paterson CR. Causes of death in osteogenesis imperfecta. J Clin Pathol. 1996 Aug;49(8):627-30.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC500603
http://www.ncbi.nlm.nih.gov/pubmed/8881910?tool=bestpractice.com
However, keep in mind that the natural history of this condition is dynamic, and can be modified by the repurposing of current therapies and emergence of new therapies, as well as by the increasing awareness of healthcare providers and lay communities involved in the care and support of patients with OI, respectively.