What is Osteogenesis Imperfecta?
There is no cure for brittle bone disorder, which is officially known by the name of osteogenesis imperfecta. But there are some options available which can help patients manage the disorder. A congenital disease caused by a defective gene, osteogenesis imperfecta (OI) makes the patient develop brittle, or fragile, bones. Type 1 collagen, which is a necessary component of bone building, is deficient during the development of those with OI. Sometimes OI is caused by a spontaneous genetic mutation, but most cases are inherited.
In general, the hallmark symptoms of OI are blue sclera, which is a blue tint present in the white part of the eyes, bone fractures, and hearing loss or deafness. Most people with brittle bone disorder are shorter than average in height and can have poor teeth. Ligaments also have type 1 collagen, so OI patients may also have flat feet and hypermobility, or loose joints. More severe cases of OI can display scoliosis, kyphosis, or bowed limbs.1
How Does Each Type of OI Affect Patients?
Type I OI is mild, and patients whose condition falls under this category can generally live a comparably more normal life. Type II is severe and has a higher mortality rate. Death often occurs within the first year of life for those who were born with Type II. Type III is also severe, and it presents with bone deformities and multiple fractures. These patients generally end up in a wheelchair, with an increased chance of a shortened lifespan. Type IV is moderately severe, with patients often needing braces and crutches to walk. However, in the case of Type IV, like Type I, a normal lifespan is usually expected.
As a result of the weakened bones, patients are also likely to develop deafness, heart failure, spinal cord problems, respiratory issues, and deformity. These are all potential complications of osteogenesis imperfecta.2 There are many other types of OI, ranging in severity and symptoms from V-VIII as well. Another name for OI is Lobstein syndrome. Cases of OI occur in about 1 out of 20,000 live births.
There is no single way to test for OI, but, in order to diagnose a case of OI, it must be differentiated from child abuse, rickets, and other skeletal problems. These other causes could share similar symptoms, and a false diagnosis is preferably avoided, especially if abuse is the cause.3 OI patients may also bruise more easily and develop hernias.4 One famous actor with osteogenesis imperfecta is Atticus Shaffer, known for playing Brick on TV’s The Middle. His mother has Type I OI, and he has Type IV. His is a case that demonstrates that those with Type IV could live fairly active and normal lives.5
Prognosis and Treatments
No cure has yet been found for preventing OI or fully treating those who were born with the condition. There are, however, ways to help patients manage their condition so that they could be able to live their lives somewhat more easily.
Medications & Exercises
Some medications, like bisphosphonates for osteoporosis, can help with maintaining bone strength and density. If the medications are used early in the patient, such as when the condition has been diagnosed in children, the medications can reduce instances of fractures and bone pain, especially in the spine. Swimming and low impact exercises that build muscles can help with bone maintenance. Low impact exercises allow some development of strength without putting too much stress on the brittle bones.
Surgery and Others
Some patients may need surgery, which could include such procedures as putting metal rods into the leg bones, or reconstructive surgery for spinal problems or bowed legs, in order to increase mobility. Fractures will continue to occur in those who have OI, but it is still important for patients to limit the amount of time that they spend having to wear casts. The prolonged wearing of a cast could leave a patient at risk of disuse osteoporosis, which is a condition where bone loss occurs from the lack of use of the fractured body part. Patients with brittle bone disorder cannot afford to lose further bone density.6 Bone infections are also possible in OI, and antiseptics and antibiotics are used to treat those. Wheelchairs, splints, crutches, and other devices are often necessary methods the patients can use to help maintain some safe level of autonomy.
Even those with less severe cases of OI need to be careful in order to avoid worsening their condition. Useful and generally safe ways to strengthen muscles and improve mobility include hydrotherapy and physiotherapy. The latter method of strengthening is often more helpful to adults, as children tend to want to avoid movement that causes pain.7 All OI patients should avoid taking up smoking, as this addictive habit has a negative impact on bones. Menopausal women who have osteogenesis imperfecta may benefit from taking hormone replacement therapy (HRT).8