Brittle Bone disease

Does this disease ring a bell for you? Do you know what is it about? 

A little hint: The character Elijah Price (played by the actor Samuel L Jackson) in Unbreakable movie has this disease…
.
Other hint: Sometimes when you fall or have an accident you hope that you didn’t have bruises or break a bone. But when a person with this disease falls, he/she hopes that just a bone was broken. It is a weird disease but in a very sad way…

Have you found the answer?

Osteogenesis imperfecta (OI), also called Brittle Bone disease is a genetic bone disorder characterized by fragile bones that break easily without a specific cause.

In the United States, the incidence of OI is estimated to be 1 per 20.000 live births. 
.

OI is caused by a genetic defect affecting the non-mineral part of bone. About 85% of defects are in collagen, the triple helix connective tissue rope that holds the mineral parts of bones together. Other more rare forms of OI affect other proteins in bone. There are eight forms of this disease.
.

OI is a lifelong condition that varies greatly in severity, affecting bone quality and bone mass.

The condition can also affect a child’s stature, hearing, skin, blood vessels, muscle mass (hypotonia or poor muscle tone) and teeth (dentinogenesis imperfecta).

The most common form of OI (Type I) is the least severe. Here some symptoms:

· Bones fracture easily

· Slight spinal curvature

· Loose joints

· Poor muscle tone
· Slight protrusion of the eyes

· Discoloration of the sclera (whites of the eyes), usually giving them a blue-gray color, due to the underlying choroidal veins which show through. The sclera being thinner than normal because of the defective Type I collagen not forming correctly. 

Nowadays, there is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility.

Although there is no known cure for OI, regular weight-bearing exercise, a diet rich in calcium and vitamin D, a healthy lifestyle, and, in some cases, vitamin supplements will help off-set early development of osteoporosis, prevent future fractures, and delay other health concerns related to OI.