Brittle Bone Disease - Osteogenesis Imperfecta

Image via: Broken Bones

Osteogenesis Imperfecta (OI), also known as Brittle Bone Disease, is a disease that doesn't allow the human body to produce hormones that create the sturdy bone structure. Osteogenesis Imperfecta is a very uncommon disease most commonly diagnosed when the baby is born. In dominant Osteogenesis Imperfecta, a person has too little type I collagen or a poor quality of type I collagen due to a mutation in one of the type I collagen genes. Collagen is the most abundant protein in the human body, it also is the substance that holds the whole body together. It is found in bones, skin, and tendons forming a scaffold to provide structure and strength. Most cases of Osteogenesis Imperfecta are caused by a dominate gene defect, this is mostly 85%-90% of the patients diagnosed. There is no cure for OI but there is treatment for it and it is to try to stop or control the symptoms. Several different types of treatment have been tested on humans, like the use of oral drugs, growth hormones, and injected drugs. Instead of treatment, there is a surgical procedure that is highly considered for patients with OI, this procedure is called "rodding". Surgeons insert metal rods into the bones to to try and fix bone deformity and provide additional strength. Osteogenesis Imperfecta truly creates life hard for the patients that suffer through it.