Transcript Osteogenesis_Imperfecta

Osteogenesis Imperfecta
Abhi Mohan
MD4
Summer 2014
Type I is the strongest as it is located in bones, skin, tendons, fascia,
cornea, teeth and mature scars.
Type II little bit less strength seen in cartilage, vitreous humor, and nuclus
pulposus
Type III goes even weaker as it is present in granulation tissue, embryonic
tissue, uterus, blood vessels, and keloids.
Type IV is the weakest is it only supports a row of epithelial cells as it's
found only in basement membranes.
How common is it
A range of 25,000 to 50,000 Americans are
affected by OI. This wide range is due to the fact
that very mild cases of OI often go unnoticed and
are not diagnosed.
Worldwide, about 1 in every 20,000 people have
OI. Generally, it is a rare disease.
OI is a genetic disorder the affects the gene that produces collagen in your
body. Collagen is a protein that connects tissues in your body. It also helps
with the formation of teeth, ligaments, and sclera (white outer tissue of the
eyeball).
By looking at a person, you MAY be able to tell if they had OI by their
abnormally small stature, the whites of their eyes being a blue color, they
would have a triangular head shape, and could potentially be using a walker,
wheelchair, or have casts on at the time. However, some people with OI have
relatively mild symptoms and you MAY NOT notice that they look different in
any way.
Dominant or Recessive?
About 85%-90% of OI cases that are inherited are inherited in dominant
manner. There are some rare instances where the disorder is recessive an
autosomal however. The different inheritance patterns may also deal with
slightly different genes.
35% of OI cases are a result of spontaneous mutations, while the others
come from parents affected by OI or parents who are carriers.
The mutations that cause collagen problems can affect either the quantity of
collagen or the quality of the collagen produced.
Testing can take place to make a diagnosis if a person is showing symptoms of OI.
Tests can also be planned for children whose families have been affected by OI.
Testing and diagnosis is usually done during childhood, and a diagnosis can
sometimes be made during pregnancy.
There is no cure for OI as of right now. However, there are some ways of dealing with
the disorder. Biophosphonates and other medicines are used to make bones stronger
and more dense, and surgically placing rods in the bones of the legs often help prevent
major fractures. There are minor symptoms of the biophosphonates, including stomach
upset and heartburn. On a regular basis, doctors and families focus on mobility and
safe exercise such as swimming and physical therapy, as well as keeping fracture
numbers to a minimum. Braces, wheelchairs, and casts are useful aids as well.