Osteogenesis imperfecta

Osteogenesis imperfecta (OI), also known as brittle bone disease or brittle bone dysplasia, most commonly presents in children and adolescents with one or more of the following features: recurrent fragility fractures, unusually low bone mass, bone deformities, kyphoscoliosis, short stature, blue-gray sclera, dentinogenesis imperfecta, craniofacial deformity, progressive hearing loss, joint laxity, chronic pain, and muscle weakness.

OI demonstrates significant phenotypic variability and the extent and severity of skeletal and extraskeletal manifestations can differ even among affected members of a family. Therefore, absence of any particular clinical feature does not rule out a diagnosis of OI.

A skeletal survey is recommended in most patients when establishing care and to assess the extent of fractures and bone deformities. Further diagnostic workup to confirm the diagnosis and guide management depends on the individual patient, particularly the presenting features and severity of the disorder, and may include dual-energy x-ray absorptiometry (DXA), audiology evaluation, and genetic testing.

Multidisciplinary management is key and may include input from numerous specialties including clinical genetics, endocrinology, orthopedics, physiatry, physical and occupational therapy, dentistry, audiology and otorhinolaryngology, pain management, cardiology, and pulmonology.

Overall goals of treatment are to increase areal bone mineral density, prevent and treat fractures, manage pain, improve functional outcomes, optimize hearing, improve oral and dental health, and prevent extraskeletal complications. The mainstays of pharmaceutical treatment are analgesia and bisphosphonate therapy, which, if indicated, should be individualized to the patient according to their symptoms and phenotypic presentation.

Prognosis is dependent on the underlying genetic variant, which determines severity; however, the natural history of the condition is dynamic and can be modified by the use of medical therapies.

Osteogenesis imperfecta (OI) comprises a group of rare genetically and phenotypically heterogeneous disorders that are characterized by recurrent fragility fractures, unusually low bone mass, bone deformities, scoliosis, and short stature. OI can also manifest with dentinogenesis imperfecta, dental malocclusion, progressive hearing loss, blue-gray sclera, cardiopulmonary problems, joint laxity, chronic pain, and muscle weakness.[1]Marom R, Rabenhorst BM, Morello R. Osteogenesis imperfecta: an update on clinical features and therapies. Eur J Endocrinol. 2020 Oct;183(4):R95-106. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7694877 http://www.ncbi.nlm.nih.gov/pubmed/32621590?tool=bestpractice.com Due to substantial phenotypic variations, clinical severity can range from life threatening or fatal (including perinatal death), to mild or nearly asymptomatic (including delayed presentations in which signs and symptoms may not be apparent until puberty).[2]Pontz BF, Stöss H, Spranger J. Heterogeneity in osteogenesis imperfecta: clinical and morphological findings. Ann N Y Acad Sci. 1988;543:30-9. http://www.ncbi.nlm.nih.gov/pubmed/3214051?tool=bestpractice.com