Osteogenesis imperfecta (OI)

Osteogenesis imperfecta (OI)

1. Osteogenesis imperfecta (OI)
Maria Carmela L. Domocmat, RN, MSN
Instructor
Northern Luzon Adventist College

2. http://www.oif.org/images/content/pagebuilder/94682.jpg
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Maria Carmela L. Domocmat, RN, MSN

3. Osteogenesisimperfecta(OI) ·
AKA: Brittle bone disease
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rare genetic disorder in which bone are fragile and
fracture easily resulting in bone deformity
·
anautosomal dominantdisease
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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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Maria Carmela L. Domocmat, RN, MSN

4. Types according to Silence classification
system
o
has four types based on inheritance as autosomal
dominant or autosomal recessive and clinical findin gs
of each type
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Types I and IV –more mild manifestations of disease; can persist into adulthood 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 rat e
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Maria Carmela L. Domocmat, RN, MSN

5. Type 1 Type 1 Type 1 Type 1 osteogenesis osteogenesis osteogenesis osteogenesis M
most common.
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People who have type 1 disease generally reach norm al
height and have few obvious skeletal deformities.
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typically causes more fractures during childhood th an in adulthood. adulthood.
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Hearing loss is pronounced and begins early in chil dhood.
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Maria Carmela L. Domocmat, RN, MSN

6. Type 2 Type 2 Type 2 Type 2 osteogenesis osteogenesis osteogenesis osteogenesisimperfecta imperfecta imperfecta imperfecta M
most rare and the most severe.
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produces numerous deformities of the skeleton
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often is fatal in infancy.
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abnormal collagen formation also profoundly affects the lungs, causing
significant breathing problems.
lungs, causing
significant breathing problems.
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Maria Carmela L. Domocmat, RN, MSN

7. Type 4 Type 4 Type 4 Type 4 osteogenesis osteogenesis osteogenesis osteogenesisimperfecta imperfecta imperfecta imperfecta M
more severe than type 1 but less severe than type 3 .
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Fractures are most common before puberty.
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Hearing loss begins in early childhood and is often profound
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Maria Carmela L. Domocmat, RN, MSN

8. Type 3 Type 3 Type 3 Type 3 osteogenesis osteogenesis osteogenesis osteogenesisimperfecta imperfecta imperfecta imperfecta M
produces obvious skeletal deformities. Fractures be fore birth
are common;
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UTZ can detect them in the fetus.
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also affects the lungs and muscles.
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Hearing
loss begins in early childhood and often becomes
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Hearing
loss begins in early childhood and often becomes
complete by adolescence.
http://www.beltina.org/health-dictionary/osteogenes is-imperfecta-types-treatment.html
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Maria Carmela L. Domocmat, RN, MSN

9. s/s M
All people with OI have weak bones, which makes the m
susceptible to fractures. Persons with OI are usual ly below average
height (short stature). However, the severity of th e disease varies
greatly
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Maria Carmela L. Domocmat, RN, MSN

10. s/s M
The classic symptoms include: M
osteoporosis
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history of multiple fractures
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bone deformity
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poor skeletal development
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poor skeletal development
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soft brownish teeth
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hearing loss
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Blue tint to the whites of their eyes (blue sclera)
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Because type I collagen is also found in ligaments, persons with
OI often have loose joints (hypermobility) and flat feet.
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Maria Carmela L. Domocmat, RN, MSN

11. s/s M
Symptoms of more severe forms of OI may include: M
Bowed legs and arms
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Kyphosis
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Scoliosis (S-curve spine)
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Maria Carmela L. Domocmat, RN, MSN

12. bone deformity
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Maria Carmela L. Domocmat, RN, MSN

13. blue sclerae
http://www.thachers.org/images/Osteogenesis_imperfe cta_blue_sclera.JPG
http://cnx.org/content/m15020/latest/Cases_40_41_42-pres 1-1.jpg
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Maria Carmela L. Domocmat, RN, MSN

14. soft brownish teeth; bone deformity
http://jorthod.maneyjournals.org/content/vol30/issue4/i mages/large/Kind.f1c.jpeg
http://www.beltina.org/pics/osteogenesis_imperfecta .jpg
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Maria Carmela L. Domocmat, RN, MSN

15. This baby's extremities are positioned oddly becaus e there have been multiple fractures due
to osteogenesisimperfecta(OI). This disease leads t o multiple fractures. The basic problem
is a defect in the formation of type 1 collagen tha t forms bone matrix. There are several
types of OI with different inheritance patterns.
http://medgen.genetics.utah.edu/photographs/diseases/hig h/peri021.jpg
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Maria Carmela L. Domocmat, RN, MSN

16. Dx: M
serum alkaline phosphatase–increased
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Maria Carmela L. Domocmat, RN, MSN

17. Treatment M
Treatment for fracture is generally conservative, t argeting a
balance between immobilizing the fracture long enou gh for it
to heal and allowing normal muscle function as quic kly as
possible.
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Physical activity helps strengthen muscles and bone , which in turn minimizes fractures. turn minimizes fractures.
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The most numerous fractures occur during childhood when
the bones are growing and thus have lower mineral c ontent.
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The risk for fracture is lifelong, however, and may increase in
women after menopausewhen bone densitynaturally
declines.
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Maria Carmela L. Domocmat, RN, MSN

18. Treatment
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palliative
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steroids
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calcium
o
vitC
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sodium fluoride PT
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PT
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casting
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bracing
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telescoping intramedullaryrods –to maintain mobility
and promote ambulation
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research ongoing –Biphophonates
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Maria Carmela L. Domocmat, RN, MSN

19. Expectations (prognosis) M
How well a person does depends on the type of OI th ey have.
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Type I, or mild OI, is the most common form. Person s with
this type can live a normal lifespan.
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Type II is a severe form that is usually leads to d eath in the first year of life. first year of life.
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Type III is also called severe OI. Persons with thi s type have many
fractures starting very early in life and can have severe bone
deformities. Many become wheelchair bound and usual ly have a
somewhat shortened life expectancy.
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Maria Carmela L. Domocmat, RN, MSN

20. Expectations (prognosis) M
Type IV, or moderately severe OI, is similar to typ e I, although
persons with type IV often need braces or crutches to walk. Life
expectancy is normal or near normal.
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There
are other types of OI, but they occur very infreque ntly and
There
are other types of OI, but they occur very infreque ntly and
most are considered subtypes of the moderately seve re form (type
IV).
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Maria Carmela L. Domocmat, RN, MSN

21. Complications M
Complications are largely based on the type of OI present.
They are often directly related to the problems with weak
bones and multiple fractures.
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Hearing loss (common in type I and type III)
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Heart failure (type II)
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Heart failure (type II)
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Respiratory problems and pneumonias due to chest wa ll
deformities
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Spinal cord or brain stem problems
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Permanent deformity
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Maria Carmela L. Domocmat, RN, MSN

22. http://jorthod.maneyjournals.org/content/vol30/issue4/i mages/large/Kind.f1c.jpeg
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Maria Carmela L. Domocmat, RN, MSN

23. Resources M
Ignatavicius and Workman (2006). MS Nursing [5
th
ed].
Singapore: Elsevier.
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http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH000254 0/
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http://www.beltina.org/health
-
dictionary/osteogenesis
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http://www.beltina.org/health
-
dictionary/osteogenesis
-
imperfecta-types-treatment.html
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http://www.oif.org/site/PageServer
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http://www.umm.edu/ency/article/001573.htm
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Maria Carmela L. Domocmat, RN, MSN