Why Does Osteopetrosis Occur?

Osteopetrosis is marked by increased bone density due to a defect in bone reabsorption by cells called osteoclasts. This leads to accumulation of bone with defective architecture, making them brittle and susceptible to fracture. In some cases, this is also accompanied by skeletal abnormalities.

What causes osteopetrosis?

The X-linked type of osteopetrosis, OL-EDA-ID, results from mutations in the IKBKG gene. In about 30 percent of all cases of osteopetrosis, the cause of the condition is unknown. The genes associated with osteopetrosis are involved in the formation, development, and function of specialized cells called osteoclasts.

Who is most likely to get osteopetrosis?

Osteoporosis affects men and women of all races. But white and Asian women, especially older women who are past menopause, are at highest risk. Medications, healthy diet and weight-bearing exercise can help prevent bone loss or strengthen already weak bones.