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
2 Maria Carmela L. Domocmat, RN, MSN

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 tissue
3 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 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 rate
4 Maria Carmela L. Domocmat, RN, MSN

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. 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. 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 profound
7 Maria Carmela L. Domocmat, RN, MSN

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.html
8 Maria Carmela L. Domocmat, RN, MSN

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
greatly
9 Maria Carmela L. Domocmat, RN, MSN

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

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.jpg
13 Maria Carmela L. Domocmat, RN, MSN

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.jpg
14 Maria Carmela L. Domocmat, RN, MSN

15. 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
15 Maria Carmela L. Domocmat, RN, MSN

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

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

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.htm
23 Maria Carmela L. Domocmat, RN, MSN