Osteogenesis Imperfecta (OI)
What is OI?
Also known as "Brittle Bone Disease." It is a genetic disorder where the body doesn't make Collagen correctly. Collagen is the scaffolding of the bone. Without good scaffolding, bones break easily.
Types:
- Type 1 (Mild): Most common. Patients have frequent fractures in childhood (often from minor bumps) but normal height. They often have Blue Sclera (the whites of the eyes look blue/grey).
- Type 2 (Severe): Usually fatal in infancy.
- Type 3/4 (Moderate): Multiple fractures leading to deformities and short stature.
Treatment:
- Bisphosphonates: IV infusions (Pamidronate/Zoledronic Acid) strengthen the bone and significantly reduce pain and fracture rates.
- Surgery: Putting metal rods inside the long bones ("Rodding") to prevent bowing and breaking.
Resources:
- Osteogenesis Imperfecta Foundation: www.oif.org