Osteogenesis imperfecta (OI)


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Osteogenesis imperfecta (OI)

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Osteogenesis imperfecta (OI)

  1. 1. Osteogenesis imperfecta (OI)Maria Carmela L. Domocmat, RN, MSNInstructorNorthern Luzon Adventist College
  2. 2. http://www.oif.org/images/content/pagebuilder/94682.jpg2 Maria Carmela L. Domocmat, RN, MSN
  3. 3. Osteogenesis imperfecta (OI) • AKA: Brittle bone disease • rare genetic disorder in which bone are fragile and fracture easily resulting in bone deformity • an autosomal dominant disease • A person with OI has a 50% chance of passing on the gene and the disease to their children. • involves errors in synthesis of collagen, a connective tissue3 Maria Carmela L. Domocmat, RN, MSN
  4. 4. Types according to Silence classification system o has four types based on inheritance as autosomal dominant or autosomal recessive and clinical findings of each type o Types I and IV – more mild manifestations of disease; can persist into adulthood o Types II and III – more severe and can result in fracture in utero, during the birthing process, or in early childhood; associated with high mortality rate4 Maria Carmela L. Domocmat, RN, MSN
  5. 5. Type 1 osteogenesis most common. People who have type 1 disease generally reach normal height and have few obvious skeletal deformities. typically causes more fractures during childhood than in adulthood. Hearing loss is pronounced and begins early in childhood.5 Maria Carmela L. Domocmat, RN, MSN
  6. 6. Type 2 osteogenesis imperfecta most rare and the most severe. produces numerous deformities of the skeleton often is fatal in infancy. abnormal collagen formation also profoundly affects the lungs, causing significant breathing problems.6 Maria Carmela L. Domocmat, RN, MSN
  7. 7. Type 4 osteogenesis imperfecta more severe than type 1 but less severe than type 3. Fractures are most common before puberty. Hearing loss begins in early childhood and is often profound7 Maria Carmela L. Domocmat, RN, MSN
  8. 8. Type 3 osteogenesis imperfecta produces obvious skeletal deformities. Fractures before birth are common; UTZ can detect them in the fetus. also affects the lungs and muscles. Hearing loss begins in early childhood and often becomes complete by adolescence. http://www.beltina.org/health-dictionary/osteogenesis-imperfecta-types-treatment.html8 Maria Carmela L. Domocmat, RN, MSN
  9. 9. s/s All people with OI have weak bones, which makes them susceptible to fractures. Persons with OI are usually below average height (short stature). However, the severity of the disease varies greatly9 Maria Carmela L. Domocmat, RN, MSN
  10. 10. s/s The classic symptoms include: osteoporosis history of multiple fractures bone deformity poor skeletal development soft brownish teeth hearing loss Blue tint to the whites of their eyes (blue sclera) Because type I collagen is also found in ligaments, persons with OI often have loose joints (hypermobility) and flat feet.10 Maria Carmela L. Domocmat, RN, MSN
  11. 11. s/s Symptoms of more severe forms of OI may include: Bowed legs and arms Kyphosis Scoliosis (S-curve spine)11 Maria Carmela L. Domocmat, RN, MSN
  12. 12. bone deformity12 Maria Carmela L. Domocmat, RN, MSN
  13. 13. blue sclerae http://www.thachers.org/images/Osteogenesis_imperfecta_blue_sclera.JPG http://cnx.org/content/m15020/latest/Cases_40_41_42-pres1-1.jpg13 Maria Carmela L. Domocmat, RN, MSN
  14. 14. soft brownish teeth; bone deformity http://jorthod.maneyjournals.org/content/vol30/issue4/images/large/Kind.f1c.jpeg http://www.beltina.org/pics/osteogenesis_imperfecta.jpg14 Maria Carmela L. Domocmat, RN, MSN
  15. 15. This babys extremities are positioned oddly because there have been multiple fractures due to osteogenesis imperfecta (OI). This disease leads to multiple fractures. The basic problem is a defect in the formation of type 1 collagen that forms bone matrix. There are several types of OI with different inheritance patterns. http://medgen.genetics.utah.edu/photographs/diseases/high/peri021.jpg15 Maria Carmela L. Domocmat, RN, MSN
  16. 16. Dx: serum alkaline phosphatase – increased16 Maria Carmela L. Domocmat, RN, MSN
  17. 17. Treatment Treatment for fracture is generally conservative, targeting a balance between immobilizing the fracture long enough for it to heal and allowing normal muscle function as quickly as possible. Physical activity helps strengthen muscles and bone, which in turn minimizes fractures. The most numerous fractures occur during childhood when the bones are growing and thus have lower mineral content. The risk for fracture is lifelong, however, and may increase in women after menopause when bone density naturally declines.17 Maria Carmela L. Domocmat, RN, MSN
  18. 18. Treatment o palliative o steroids o calcium o vit C o sodium fluoride o PT o casting o bracing o telescoping intramedullary rods – to maintain mobility and promote ambulation o research ongoing – Biphophonates18 Maria Carmela L. Domocmat, RN, MSN
  19. 19. Expectations (prognosis) How well a person does depends on the type of OI they have. Type I, or mild OI, is the most common form. Persons with this type can live a normal lifespan. Type II is a severe form that is usually leads to death in the first year of life. Type III is also called severe OI. Persons with this type have many fractures starting very early in life and can have severe bone deformities. Many become wheelchair bound and usually have a somewhat shortened life expectancy.19 Maria Carmela L. Domocmat, RN, MSN
  20. 20. Expectations (prognosis) Type IV, or moderately severe OI, is similar to type I, although persons with type IV often need braces or crutches to walk. Life expectancy is normal or near normal. There are other types of OI, but they occur very infrequently and most are considered subtypes of the moderately severe form (type IV).20 Maria Carmela L. Domocmat, RN, MSN
  21. 21. Complications Complications are largely based on the type of OI present. They are often directly related to the problems with weak bones and multiple fractures. Hearing loss (common in type I and type III) Heart failure (type II) Respiratory problems and pneumonias due to chest wall deformities Spinal cord or brain stem problems Permanent deformity21 Maria Carmela L. Domocmat, RN, MSN
  22. 22. http://jorthod.maneyjournals.org/content/vol30/issue4/images/large/Kind.f1c.jpeg22 Maria Carmela L. Domocmat, RN, MSN
  23. 23. Resources Ignatavicius and Workman (2006). MS Nursing [5th ed]. Singapore: Elsevier. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH000254 0/ http://www.beltina.org/health-dictionary/osteogenesis- imperfecta-types-treatment.html http://www.oif.org/site/PageServer http://www.umm.edu/ency/article/001573.htm23 Maria Carmela L. Domocmat, RN, MSN