Osteogenesis Imperfecta

Osteogenesis imperfecta (IPA/ˌɒstiˈɛnəsɪs ˌɪmpɜːrˈfɛktə/;[4][5] OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones.[2][1]:85 It results in bones that break easily.[2] The range of symptoms may be mild to severe.[2] Symptoms found in various types of OI include a blue tinge to the whites of the eye (sclerae), short statureloose jointshearing loss, breathing problems[2][6] and problems with the teeth (dentinogenesis imperfecta).[8] Potentially life threatening complications include cervical artery dissection and aortic dissection.[9][10]

The underlying mechanism is usually a problem with connective tissue due to a lack of, or poorly formed, type I collagen.[2] In more than 90% of cases, OI occurs due to mutations in the COL1A1 or COL1A2 genes.[2] These genetic problems are often inherited from a person’s parents in an autosomal dominant manner, but may also occur via a new mutation—de novo.[2] There are four main types, with type I being the least severe and type II the most severe.[2] As of 2020, eighteen different genes are known to cause the twenty documented types of OI.[11] Diagnosis is often based on symptoms and may be confirmed by a collagen biopsy and/or a DNA test.[6]

Although there is no cure,[6] OI does not have a major effect on life expectancy,[1]:461 and many people with OI can achieve a significant agree of autonomy.[12] Maintaining a healthy lifestyle by exercising and avoiding smoking can help prevent fractures.[6] Treatment may include acute care of broken bonespain medicationphysical therapy, mobility aids such as leg braces or wheelchairs, and rodding surgery,[6] a type of surgery that puts metal intramedullary rods along the long bones (such as the femur) in an attempt to strengthen them.[6] Evidence also supports the use of medications of the bisphosphonate class, such as pamidronate, to increase bone density.[13] Bisphosphonates are especially effective in children,[14] however it is unclear if they lead to increases in quality of life or decrease the incidence of fractures.[7]

OI affects about one in 10,000 to 20,000 people.[2] Outcomes depend on the genetic cause of the disorder (its type), but death during childhood from it is rare.[6] Moderate to severe OI primarily affects mobility; if rodding surgery is performed during childhood, those with more severe types of OI can gain the ability to walk.[15] The condition has been described since ancient history.[16] The Latinate term “osteogenesis imperfecta” came into use in 1895 and literally translates to “imperfect bone formation”.[2][16]

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