| Osteogenesis imperfecta | |
|---|---|
| Other names | Brittle bone disease,[1] Lobstein syndrome,[2] fragilitas ossium,[1] Vrolik disease,[1] osteopsathyrosis, Porak disease, Durante disease[3] |
 | |
| The classic blue sclerae of a person with osteogenesis imperfecta | |
| Specialty | Pediatrics, medical genetics, osteology |
| Symptoms | Bones that break easily, blue tinge to the whites of the eye, short height, loose joints, hearing loss[1][4] |
| Duration | Long term[4] |
| Causes | Genetic (autosomal dominant, new mutation)[1] |
| Diagnostic method | Based on symptoms, DNA testing[4] |
| Treatment | Healthy lifestyle (exercise, no smoking), metal rods through the long bones[5] |
| Prognosis | Depends on the type[4] |
| Frequency | 1 in 15,000 people[1] |
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a group of genetic disorders that mainly affect the bones.[1][6] It results in bones that break easily.[1] The severity may be mild to severe.[1] 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.[1][4] Complications may include cervical artery dissection and aortic dissection.[7][8]
The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen.[1] This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes.[1] These genetic problems are often inherited from a person's parents in an autosomal dominant manner or occur via a new mutation.[1] There are at least eight main types, with type I being the least severe and type II the most severe.[1] Diagnosis is often based on symptoms and may be confirmed by collagen or DNA testing.[4]
There is no cure.[4] Maintaining a healthy lifestyle by exercising and avoiding smoking can help prevent fractures.[5] Treatment may include care of broken bones, pain medication, physical therapy, braces or wheelchairs and surgery.[5] A type of surgery that puts metal rods through long bones may be done to strengthen them.[5] Tentative evidence supports the use of medications of the bisphosphonate type.[9][10]
OI affects about one in 15,000 people.[1] Outcomes depend on the type of disease.[4] Most people, however, have good outcomes.[4] The condition has been described since ancient history.[11] The term "osteogenesis imperfecta" came into use in 1895 and means imperfect bone formation.[1][11]
References edit
- ^ a b c d e f g h i j k l m n o p "osteogenesis imperfecta". Genetics Home Reference. 11 October 2016. Archived from the original on 18 October 2016. Retrieved 15 October 2016.
- ^ William, Berger (2006). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 517. ISBN 978-0721629216.
- ^ "Brittle Bone Disorder". 1996. Retrieved 6 November 2018.
- ^ a b c d e f g h i "Osteogenesis Imperfecta Overview". NIAMS. June 2015. Archived from the original on 18 October 2016. Retrieved 15 October 2016.
- ^ a b c d "What Is Osteogenesis Imperfecta? Fast Facts: An Easy-to-Read Series of Publications for the Public". NIAMS. November 2014. Archived from the original on 18 October 2016. Retrieved 15 October 2016.
- ^ "Osteogenesis imperfecta". rarediseases.info.nih.gov. Retrieved 2018-04-17.
- ^ Grond-Ginsbach, C; Debette, S (March 2009). "The association of connective tissue disorders with cervical artery dissections". Current Molecular Medicine. 9 (2): 210–4. doi:10.2174/156652409787581547. PMID 19275629.
- ^ McNeeley, MF; Dontchos, BN; Laflamme, MA; Hubka, M; Sadro, CT (December 2012). "Aortic dissection in osteogenesis imperfecta: case report and review of the literature". Emergency Radiology. 19 (6): 553–6. doi:10.1007/s10140-012-1044-1. PMID 22527359.
- ^ Harrington, J; Sochett, E; Howard, A (December 2014). "Update on the evaluation and treatment of osteogenesis imperfecta". Pediatric Clinics of North America. 61 (6): 1243–57. doi:10.1016/j.pcl.2014.08.010. PMID 25439022.
- ^ Dwan, K; Phillipi, CA; Steiner, RD; Basel, D (19 October 2016). "Bisphosphonate therapy for osteogenesis imperfecta". The Cochrane Database of Systematic Reviews. 10: CD005088. doi:10.1002/14651858.CD005088.pub4. PMC 6611487. PMID 27760454.
- ^ a b Kelly, Evelyn B. (2012). Encyclopedia of Human Genetics and Disease. ABC-CLIO. p. 613. ISBN 9780313387135. Archived from the original on 2017-11-05.