Osteogenesis imperfecta (OI)

Maria Carmela L. Domocmat, RN, MSN

Instructor

Northern Luzon Adventist College

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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 tissue

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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 adulthooddisease; 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 rate

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Type 1 Type 1 Type 1 Type 1 osteogenesisosteogenesisosteogenesisosteogenesis� 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. adulthood.

� Hearing loss is pronounced and begins early in childhood.

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Type 2 Type 2 Type 2 Type 2 osteogenesisosteogenesisosteogenesisosteogenesis imperfectaimperfectaimperfectaimperfecta� 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.lungs, causing significant breathing problems.

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Type 4 Type 4 Type 4 Type 4 osteogenesisosteogenesisosteogenesisosteogenesis imperfectaimperfectaimperfectaimperfecta� 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 profound

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Type 3 Type 3 Type 3 Type 3 osteogenesisosteogenesisosteogenesisosteogenesis imperfectaimperfectaimperfectaimperfecta� 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 � Hearing loss begins in early childhood and often becomes complete by adolescence.

http://www.beltina.org/health-dictionary/osteogenesis-imperfecta-types-treatment.html

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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 greatly

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s/s � The classic symptoms include:

� osteoporosis

� history of multiple fractures

� bone deformity

� poor skeletal development � 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.

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s/s� Symptoms of more severe forms of OI may include:

� Bowed legs and arms

� Kyphosis

� Scoliosis (S-curve spine)

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bone deformity

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blue sclerae

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soft brownish teeth; bone deformity

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http://www.beltina.org/pics/osteogenesis_imperfecta.jpg

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This baby's 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.jpg

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Dx: � serum alkaline phosphatase – increased

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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. 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.

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Treatment o palliativeo steroidso calcium o vit Co sodium fluoride

PTo PTo castingo bracing o telescoping intramedullary rods – to maintain mobility

and promote ambulation o research ongoing – Biphophonates

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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.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.

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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 There are other types of OI, but they occur very infrequently and most are considered subtypes of the moderately severe form (type IV).

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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)� Heart failure (type II)

� Respiratory problems and pneumonias due to chest wall deformities

� Spinal cord or brain stem problems

� Permanent deformity

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http://jorthod.maneyjournals.org/content/vol30/issue4/images/large/Kind.f1c.jpeg

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Resources � Ignatavicius and Workman (2006). MS Nursing [5th ed].

Singapore: Elsevier.

� http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002540/

� http://www.beltina.org/health-dictionary/osteogenesis-� http://www.beltina.org/health-dictionary/osteogenesis-imperfecta-types-treatment.html

� http://www.oif.org/site/PageServer

� http://www.umm.edu/ency/article/001573.htm

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