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What is osteopetrosis ?

Osteopetrosis is a very rare inherited disease characterized by abnormal increase in bone density. The term “osteopetrosis” comes from the Greek words “osteo” (bones) and “petras” (rock). Also known as ‘Albers-Schonberg Disease’ or ‘Marble Bone Disease’, Osteopetrosis causes the affected bones of patients to harden.

The growth and density of bones in the body are regulated by two main cells – the osteoblasts and the osteoclasts. Osteoblasts are responsible for generating new bone, while osteoclasts are accountable for destroying older bones and reabsorbing its minerals. Although most people have a properly balanced osteoblasts and osteoclasts, those with Osteopetrosis have less osteoclasts. As such, their bodies develop new bones, but the minerals of older bones are not reabsorbed. When this happens, patients continue to develop new bones, increasing the overall bone density and resulting in debilitating pain around their bones. This affects the nerves, since “rock hard” bones are pressuring the patient’s nerves.

Osteopetrosis can be diagnosed easily as the dense bones easily show up through x-ray. Patients suffering from Osteopetrosis experience intense and frequent fractures because the dense bones are also extremely brittle. In adults, the first sign of Osteopetrosis is severe pain in joints. If left untreated, this condition is potentially fatal.

Osteopetrosis also occurs in very young children. Prognosis is usually poor; children do not survive beyond age 10. Generally, the only treatment of Osteopetrosis in patients of all ages involves medications and therapies to alleviate pain. This condition is not yet curable, but researchers are continuously searching for the main cause of this condition to arrive at an effective treatment.

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