Osteogenesis imperfecta
Group of genetic disorders / From Wikipedia, the free encyclopedia
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Osteogenesis imperfecta (IPA: /ˌɒstioʊˈdʒɛnəsɪs ˌɪmpɜːrˈfɛktə/;[4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.[1]: 85 [9] The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe.[5]: 1512 Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems[10] and problems with the teeth (dentinogenesis imperfecta).[5] Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta;[1]: 333 [11] pulmonary valve insufficiency secondary to distortion of the ribcage;[1]: 335–341 [12] and basilar invagination.[13]: 106–107
Osteogenesis imperfecta (OI) | |
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Other names | Brittle bone disease,[1] Lobstein syndrome,[1]: 5 fragilitas ossium,[2] Vrolik disease,[1]: 5 osteopsathyrosis idiopathica[3]: 347 |
Blue sclerae are a classic non-pathognomonic sign of osteogenesis imperfecta. | |
Pronunciation | |
Specialty | Pediatrics, medical genetics, orthopedics |
Symptoms | Bones that break easily, blue tinge to the sclera (whites of the eye), short height, joint hypermobility, hearing loss[5] |
Onset | Birth |
Duration | Long term |
Causes | Genetic (autosomal dominant or de novo mutation)[6] |
Diagnostic method | Based on symptoms, DNA testing |
Prevention | Pre-implantation genetic diagnosis |
Management | Healthy lifestyle (exercise, no smoking), metal rods through the long bones |
Medication | Bisphosphonates[7] |
Prognosis | Depends on the type |
Frequency | 1 in 15,000–20,000 people[8] |
The underlying mechanism is usually a problem with connective tissue due to a lack of, or poorly formed, type I collagen.[5]: 1513 In more than 90% of cases, OI occurs due to mutations in the COL1A1 or COL1A2 genes.[14] These mutations may be hereditary in an autosomal dominant manner but may also occur spontaneously (de novo).[9][15] There are four clinically defined types: type I, the least severe; type IV, moderately severe; type III, severe and progressively deforming; and type II, perinatally lethal.[9] As of September 2021[update], 19 different genes are known to cause the 21 documented genetically defined types of OI, many of which are extremely rare and have only been documented in a few individuals.[16][17] Diagnosis is often based on symptoms and may be confirmed by collagen biopsy or DNA sequencing.[10]
Although there is no cure,[10] most cases of OI do not have a major effect on life expectancy,[1]: 461 [15] death during childhood from it is rare,[10] and many adults with OI can achieve a significant degree of autonomy despite disability.[18] Maintaining a healthy lifestyle by exercising, eating a balanced diet sufficient in vitamin D and calcium, and avoiding smoking can help prevent fractures.[19] Genetic counseling may be sought by those with OI to prevent their children from inheriting the disorder from them.[1]: 101 Treatment may include acute care of broken bones, pain medication, physical therapy, mobility aids such as leg braces and wheelchairs,[10] vitamin D supplementation, and, especially in childhood, rodding surgery.[20] Rodding is an implantation of metal intramedullary rods along the long bones (such as the femur) in an attempt to strengthen them.[10] Medical research also supports the use of medications of the bisphosphonate class, such as pamidronate, to increase bone density.[21] Bisphosphonates are especially effective in children,[22] however it is unclear if they either increase quality of life or decrease the rate of fracture incidence.[7]
OI affects only about one in 15,000 to 20,000 people, making it a rare genetic disease.[8] Outcomes depend on the genetic cause of the disorder (its type). Type I (the least severe) is the most common, with other types comprising a minority of cases.[15][23][24] Moderate-to-severe OI primarily affects mobility; if rodding surgery is performed during childhood, some of those with more severe types of OI may gain the ability to walk.[25] The condition has been described since ancient history.[26] The Latinate term osteogenesis imperfecta was coined by Dutch anatomist Willem Vrolik in 1849; translated literally, it means "imperfect bone formation".[26][27]: 683