Osteopetrosis | Skeletal System Diseases

What is Osteopetrosis?

Osteopetrosis is a disease that causes the density of bones in the body to increase over time. In a healthy bone, old cells will be recycled at the same rate as new cells are created, thereby keeping the total amount constant. However, in patients with osteopetrosis, the old cells are not recycled at a sufficiently high rate (or not at all). The disease affects patients of all ages, and if it occurs during early childhood it can impair and even permanently damage bone structure, and in severe cases can result in death.

Furthermore, as the bone density increases, fracture and other injuries will become more likely as the bone becomes stiffer. If the bone formation is affected to a great enough degree, it will physically impinge upon the bone marrow and hence impair the formation of blood cells. This can then cause further complications, in the form of bleeding and anemia.

If osteopetrosis occurs in the skull, the bone can begin to apply pressure on the brain, which can result in neurological damage and deformation of the face, and possible vision impairment or blindness. In these cases, neurosurgery is sometimes required to relieve the pressure on the brain, and repair existing damage.


Usually x-rays are sufficient in diagnosing osteopetrosis, in addition with an assessment of the symptoms described by the patient, and the physical appearance of the bones in question. There is no way to cure a patient with osteopetrosis, but there are a number of treatments available to ameliorate the symptoms, such as corticosteroids which have been known to expedite the rate at which old bone cells are recycled.

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