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Brittle Bone Disease (Osteogenesis Imperfecta, OI)

A genetic disorder characterized by bones that break easily, often from little or no apparent cause.

PubMed Health Glossary
(Source: NIH - National Institute of Arthritis and Musculoskeletal and Skin Diseases)

About Brittle Bone Disease (Osteogenesis Imperfecta, OI)

Osteogenesis imperfecta (OI) is a disease that causes weak bones that break easily. It is known as brittle bone disease. Sometimes the bones break for no known reason. OI can also cause many other problems such as weak muscles, brittle teeth, and hearing loss. About 20,000 to 50,000 people in the United States have OI.

What causes Osteogenesis Imperfecta?

OI is caused by one of several genes that aren't working properly. Genes carry our hereditary (family) information. We each have two copies of most genes: one set from each parent. Genes are what make you look like your biological family.

Each of the genes that cause OI plays a role in how the body makes collagen. Collagen is a material in bones that helps make them strong. When these genes aren't working properly, there isn't enough collagen, or the collagen doesn't work properly. This leads to weak bones that break easily.

Most children inherit the gene that doesn't work properly from one parent. Some inherit it from both parents. In some cases, neither parent passes on this gene. Instead, the gene stops working properly soon after the child is conceived....Read more about Osteogenesis Imperfecta NIH - National Institute of Arthritis and Musculoskeletal and Skin Diseases

What works? Research summarized

Evidence reviews

Bisphosphonate therapy for osteogenesis imperfecta

Osteogenesis imperfecta is also known as brittle bone disease. It is a genetic condition which can be passed on from a parent to child or occur in the child without any other family history. An affected person is at risk for frequent breaks of the long bones or collapse of the vertebral bones. There is no cure for osteogenesis imperfecta and treatment is mostly supportive. This review looked at trials studying one of the groups of medications known as bisphosphonates which are more typically used to treat osteoporosis. They are used in osteogenesis imperfecta to try and reduce the number of bone fractures in affected individuals.

Bisphosphonates for the prevention of fractures in Osteogenesis Imperfecta: meta-analysis of placebo-controlled trials

Bisphosphonates are widely used off-label in the treatment of patients with osteogenesis imperfecta (OI) with the intention of reducing the risk of fracture. Although there is strong evidence that bisphosphonates increase bone mineral density in osteogenesis imperfecta, the effects on fracture occurrence have been inconsistent. The aim of this study was to gain a better insight into the effects of bisphosphonate therapy on fracture risk in patients with osteogenesis imperfecta by conducting a meta-analysis of randomized controlled trials in which fractures were a reported endpoint. We searched Medline, Embase, and the Cochrane Central Register of Controlled Trials in which the effects of bisphosphonates on fracture risk in osteogenesis imperfecta were compared with placebo and conducted a meta-analysis of these studies using standard methods. Heterogeneity was assessed using the I(2) statistic. Six eligible studies were identified involving 424 subjects with 751 patient-years of follow-up. The proportion of patients who experienced a fracture was not significantly reduced by bisphosphonate therapy (Relative Risk [RR] = 0.83 [95% confidence interval 0.69-1.01], p = 0.06) with no heterogeneity between studies (I(2)  = 0). The fracture rate was reduced by bisphosphonate treatment when all studies were considered (RR = 0.71 [0.52-0.96], p = 0.02), but with considerable heterogeneity (I(2)  = 36%) explained by one study where a small number of patients in the placebo group experienced a large number of fractures. When this study was excluded, the effects of bisphosphonates on fracture rate was not significant (RR = 0.79 [0.61-1.02], p = 0.07, I(2)  = 0%). We conclude that the effects of bisphosphonates on fracture prevention in osteogenesis imperfecta are inconclusive. Adequately powered trials with a fracture endpoint are needed to further investigate the risks and benefits of bisphosphonates in this condition. © 2014 American Society for Bone and Mineral Research.

Effects of bisphosphonates in children with osteogenesis imperfecta: an AACPDM systematic review

The authors concluded that biphosphonates in children with osteogenesis imperfecta were associated with improved bone density, reduced fracture risk and improved growth in some (not all) studies. A lack of reporting of review methods and an unfocused synthesis that did not reflect evidence based on a small number of studies of questionable quality meant these conclusions may not be reliable.

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Summaries for consumers

Bisphosphonate therapy for osteogenesis imperfecta

Osteogenesis imperfecta is also known as brittle bone disease. It is a genetic condition which can be passed on from a parent to child or occur in the child without any other family history. An affected person is at risk for frequent breaks of the long bones or collapse of the vertebral bones. There is no cure for osteogenesis imperfecta and treatment is mostly supportive. This review looked at trials studying one of the groups of medications known as bisphosphonates which are more typically used to treat osteoporosis. They are used in osteogenesis imperfecta to try and reduce the number of bone fractures in affected individuals.

Understanding tests used to detect bone problems

Just like other tissues and organs in our body, bones can be affected by medical conditions too. These include things like fractures, signs of wear and tear, inflammations and cancer. Injuries and fractures are common in younger people. As we grow older, diseases like osteoporosis and osteoarthritis are more likely to develop. Various tests and examinations can be used to find out what is causing problems like pain or difficulties moving.

Can measurements show if a treatment works?

Measurements like blood pressure or cholesterol level play an important role in medicine. But can they predict how a treatment can affect important results like heart attacks or broken bones?

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Terms to know

Bone
A living, growing tissue made mostly of collagen.
Collagen
A fibrous protein found in cartilage and other connective tissue.
Genetic
Inherited; having to do with information that is passed from parents to offspring through genes in sperm and egg cells.
Hearing Loss
A general term for the complete or partial loss of the ability to hear from one or both ears.
Osteoporosis
Literally means "porous bone." This disease is characterized by too little bone formation, excessive bone loss, or a combination of both, leading to bone fragility and an increased risk of fractures of the hip, spine and wrist.
White of the Eye (Sclera)
The white layer of the eye that covers most of the outside of the eyeball.

More about Brittle Bone Disease

Photo of a child

Also called: Brittle bone syndrome, Fragilitas ossium, Osteopsathyrosis

Other terms to know: See all 6
Bone, Collagen, Genetic

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