What is the treatment of Osteogenesis Imperfecta in Adulthood?

By  ,  National Institute of Health
Jan 10, 2013

Treatments may include calcium and vitamin D supplements (if the diet is inadequate), drug therapies including oral or intravenous bisphosphonates, diet, and exercise. Smoking, overuse of alcohol, and certain medications, including cortisone-like steroids, also can have a negative impact on bone health.

Musculoskeletal and joint problems. Adults often report pain in their lower back and hips. This can be the result of compression fractures of the spine, scoliosis (curvature of the spine), or joint deterioration. Other problems can include fractures that have failed to heal (nonunion fractures) and low muscle strength. Knee pain and ankle instability also are frequent complaints in people with OI. Exercise, orthotic devices, or braces to improve hip, knee, and ankle alignment and back or joint surgery may provide relief.

Many individuals have joint laxity (loose joints) or excessive joint flexibility. This is particularly a problem for the knees and ankle joints, which are subject to pressure over the years. Also, leg lengths may differ because of a history of previous fractures. Rolling in of the ankle joint is another common problem. Heel lifts and firm ankle supports are important in limiting wear and tear and improving gait.

Orthotic devices may help provide stability for lax joints of the knees, feet, and ankles. Joint replacement surgery may be a treatment option for some, but not all, adults with OI who have joint problems.

Chronic pain. Adults may experience pain from old fractures or compression fractures of the spine related to either OI or osteoporosis. Unstable joints may increase degenerative changes, which are the source of pain in many individuals. Pain management may include lifestyle adjustments to protect the spine, medications, and alternative treatments such as acupuncture. Adults should be wary of increasing the strength of pain medication to the point where it represses breathing or reduces consciousness. Reduced consciousness can increase the risk of falls and fractures.

Pulmonary function. Breathing problems are the main concern of many adults with OI, particularly those with Type III and Type IV OI and those with significant scoliosis (curvature of the spine). Decreased chest volume, chronic bronchitis, and asthma can lead to restrictive pulmonary disorder (a reduction of lung capacity).

Rib fractures and muscle weakness also may contribute to the problem. Sleep apnea, a related problem for some adults with OI, can be determined with an overnight sleep test. During the sleep test, blood gases also can be measured for use in guiding future treatment.
Exercise to promote deep breathing, regular testing of pulmonary function, and use of supplemental oxygen can help manage pulmonary function. A bilevel positive airway pressure (BiPAP) apparatus may help with sleep apnea or related pulmonary insufficiency.

Doctors recommend aggressive treatment of all upper respiratory infections in adults with OI. Chronic bronchitis and asthma may contribute to impaired pulmonary function and should be treated with bronchodilators, inhaled corticosteroids, and antibiotics when appropriate.
Cardiac function. A small number of adults with OI seem to have heart valve problems. The most common is called mitral valve prolapse. Dilation of the aorta also may occur, but is not common. High blood pressure is as common among adults with OI as in the rest of the population. High cholesterol and related lipid disorders that may occur in families can contribute to heart problems as well.

Medical management of these disorders includes appropriate diet, drug therapies, and regular monitoring by your primary care doctor. Along with diet, drugs such as statins...

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