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: