How is osteogenesis imperfecta treated?
There is no cure for osteogenesis imperfecta (OI). People are best treated by a team of medical professionals who are experienced in treating the disorder. They will work to provide therapy to prevent or control symptoms, minimize pain, and maintain independence by keeping people as mobile and functional as possible.
Specific therapies will depend on the several factors including the severity of OI, specific symptoms, how impaired a person is, a person's age and overall health, and personal preference. Therapies can include pain medications, physical therapy, occupational therapy, and surgery. Surgery can include "rodding", a procedure in which a metal rod is put into long bone to stabilize it and prevent deformity. Fractures are managed the same way they are managed in people without OI. Some children or adults may need braces or other walking aids, and some may require a wheelchair.
Doctors recommend that children and adults with OI exercise as much as possible. Swimming or walking are good exercises for people with OI. Exercise can help build muscle and bone strength. Any exercise program should be developed after talking with your doctor and entire medical team. In general, doctors recommend following a healthy lifestyle including eating well, avoiding smoking, and not drinking a lot of alcohol or caffeine.
Parents should be trained on safe handling techniques for their infants. Infants and children with more severe forms of OI will require significant support from trained professionals.
Medications called bisphosphonates are sometimes used for most people with OI, except for those with OI type VI. These medications have not been approved by the Food and Drug Administration for children or adults with OI. Doctors do not yet know the best ways to use these medications for people with OI.
Hearing loss may develop in some people in adulthood. There are two types of hearing loss associated with OI, conductive and sensorineural hearing loss. Conductive hearing loss is when there is a problem conducting sound waves through the outer or middle ear. Sometimes, conductive hearing loss can be improved by surgery. Sensorineural hearing loss is when there is damage to the inner ear, or damage to nerve pathways that connect the inner ear to the brain. Most people with sensorineural hearing loss cannot have their hearing improved by surgery or with medicine. Hearing aids can be beneficial.
Steiner RD, Adsit J, Basel D. COL1A1/2-Related Osteogenesis Imperfecta. GeneReviews website. Accessed April 6, 2017. https://www.ncbi.nlm.nih.gov/books/NBK1295/
Beary JF, Chines AA. Osteogenesis imperfecta: Management and prognosis. UpToDate, Inc. website. http://www.uptodate.com/contents/osteogenesis-imperfecta-management-and-prognosis
Osteogenesis Imperfecta Overview. NIH Osteoporosis and Related Bone Diseases National Resource Center website. https://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/overview.asp#f