Osteogenesis imperfecta

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. Complications may include cervical artery dissection and aortic dissection.OI Type V in an adultOI Type V in a child Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones. It results in bones that break easily. The severity may be mild to severe. Other symptoms may include a blue tinge to the whites of the eye, short height, loose joints, hearing loss, breathing problems and problems with the teeth. Complications may include cervical artery dissection and aortic dissection. The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen. This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes. These genetic problems are often inherited from a person's parents in an autosomal dominant manner or occur via a new mutation. There are at least eight main types, with type I being the least severe and type II the most severe. Diagnosis is often based on symptoms and may be confirmed by collagen or DNA testing. There is no cure. Maintaining a healthy lifestyle by exercising and avoiding smoking can help prevent fractures. Treatment may include care of broken bones, pain medication, physical therapy, braces or wheelchairs and surgery. A type of surgery that puts metal rods through long bones may be done to strengthen them. Tentative evidence supports the use of medications of the bisphosphonate type. OI affects about one in 15,000 people. Outcomes depend on the type of disease. Most people, however, have good outcomes. The condition has been described since ancient history. The term 'osteogenesis imperfecta' came into use in 1895 and means imperfect bone formation. OI causes very thin blood vessels and may also result in people being bruised easily. The weakening of the muscles will result in bone deformities and growth issues. About 50% of the adults with OI experience significant hearing loss, often being affected by earlier hearing loss compared to the general population. Hearing loss in OI may or may not be associated with visible deformities of the ossicles and inner ear. Hearing loss frequently begins between the second and fourth decade of life, and may be conductive, sensorineural, or mixed in nature. OI is associated with a number of neurological abnormalities, usually involving the central nervous system, due to deformation of the skeletal structures enveloping it. Neurological complications may adversely affect life expectancy, and neurosurgical intervention may be needed to correct severe complications. OI may be associated with recurrent abdominal pain and chronic constipation, according to two studies on subjects affected by OI.