Osteogenesis imperfecta (OI), also known as brittle-bone disease, is a genetic (inherited) disorder characterized by bones that break easily without a specific cause. An estimated 20,000 to 50,000 people in the US have this disease. OI can affect males and females of all races.
The cause of OI is believed to be due to a genetic defect that causes imperfectly-formed, or an inadequate amount of, bone collagen - a protein found in the connective tissue.
The following are the most common symptoms for osteogenesis imperfecta. However, each individual may experience symptoms differently. Although symptoms may vary, generally they are used to classify the four forms of OI, each of which represents the severity of the condition.
According to the Osteoporosis and Related Bone Diseases National Resource Center, part of the National Institutes of Health (NIH), the types of OI and their symptoms include the following:
The symptoms of osteogenesis imperfecta may resemble other medical conditions or problems. Always consult your physician for a diagnosis.
In addition to a complete medical history and physical examination, diagnostic procedures for osteogenesis imperfecta may include a skin biopsy to evaluate the amount and structure of collagen. However, this test is complicated and not many qualified facilities are available to perform the procedure. It is not unusual for results of the biopsy to take up to six months.
Additional diagnostic tests may include:
x-ray - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film
an examination of the ear, nose, and throat (to detect hearing loss)
Specific treatment for osteogenesis imperfecta will be determined by your physician based on:
your age, overall health, and medical history
extent of the disease
your tolerance for specific medications, procedures, or therapies
expectations for the course of the disease
your opinion or preference
To date, there is no known treatment, medicine, or surgery that will cure osteogenesis imperfecta (OI). The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible. Treatments for preventing or correcting symptoms may include:
care of fractures
rodding - a procedure to insert a metal bar the length of a long bone to stabilize it and prevent deformity.
assistive devices, such as wheelchairs, braces, and other custom-made equipment
Management of the disease includes focusing on preventing or minimizing deformities, and maximizing the individual's functional ability at home and in the community. Management of OI is either non-surgical or surgical. Non-surgical interventions may include one or more of the following:
positioning aids (to help sit, lie, or stand)
braces and splints (to prevent deformity and promote support or protection)
Surgical interventions may be considered to manage the following conditions:
bowing of bone
scoliosis - a lateral, or sideways curvature and rotation of the back bones (vertebrae), giving the appearance that the person is leaning to one side.
Surgery may also be considered to maintain the ability to sit or stand.
Osteogenesis imperfecta (OI) is a progressive condition that needs life-long management to prevent deformity and complications. The interdisciplinary healthcare team helps the family to improve the functional outcomes and to provide support. The Osteogenesis Imperfecta Society can also be an important resource.
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