Q78.2: Osteopetrosis

You have a condition in which the bone tissue is increased.

Bones consist mainly of bone cells, certain proteins and various minerals. The minerals include calcium and phosphate, in particular. The bone tissue is constantly being broken down and built up again. This enables bones to adapt well to loading. There is usually a balance between the growth and breakdown of bone tissue.

This disrupts the breakdown of bone tissue, meaning that more bone tissue is built up than broken down. This results in more and thicker bone tissue than there would normally be. The disease is hereditary. Other family members may also be affected.

However, it is possible that you will have no symptoms with this condition. But it can also cause pain in the bones and increased fractures. The large amount of bone tissue can cause the bone marrow to be constricted. The bone marrow is inside the bone. The blood cells are formed in the bone marrow, for instance. The bone marrow also contains fat. If the bone marrow is constricted, blood cells may no longer be formed in sufficient quantities. This can have serious consequences, for example on the immune system.

The large amount of bone tissue can also pinch nerves that travel in close proximity to bones. Nerves are a sort of wiring in the body. Nerves conduct information. The nerves use electrical impulses to do this. Nerves are important, for instance, in enabling you to sense contacts and temperatures, and to move your muscles. The optic nerve and the auditory nerve are among those that can become pinched. If nerves to the facial muscles become pinched, it may no longer be possible to move muscles in the face.