Osteogenesis Imperfecta in Adults: Experience of a Hospital Center
DOI:
https://doi.org/10.24950/rspmi.631Keywords:
Adult, Disphosphonates, Osteogenesis ImperfectaAbstract
Introduction: Osteogenesis imperfecta (OI) is a rare genetic disease characterized mainly by bone fragility and can have a series of systemic manifestations. Its management involves a multidisciplinary approach. The authors intend to describe the characteristics of an adult population with OI and evaluate the treatment used.
Material and Methods: An observational and retrospective
study based on data obtained from the clinical files of patients, aged older than 18 years, with clinical diagnosis of osteogenesis imperfecta, followed at outpatient clinic of Metabolic Hereditary Diseases at Hospital Centre. Data were recorded from the medical history reported by the patients, physical examination, radiological, laboratory and bone densitometry data as well as used treatment.
Results: Twenty patients were included aged between 19
and 61 years old, 75.0% of them were classified type I OI, 15.0% type III and 10,0% type IV. The mean number of fractures were 15.45 ± 15.39 and this number was higher in type III and IV patients. Regarding bone mineral density, 50.0% of patients under 50 years old and 100.0% of patients older than 50 years presented osteoporosis criteria, as well as 66.6% and 50.0% of type III and IV patients, respectively. About 90.0% of patients reported being treated with bisphosphonates at some point in their lives.
Conclusion: OI is a disease with great clinical variability.
There is no cure, but vitamin D, calcium supplementation and bisphosphonate treatment seek to reduce the incidence of fractures.
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