Osteogenesis Imperfecta

Abhi MohanMD4

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.