What is Ostepetrosis
Osteopetrosis is an extremely rare bone disease for which your osteoclasts are dysfunctional and fail to resorb bone. Normally, there’s a balance between osteoclasts forming and breaking down (resorption) bone. With this health condition, the mechanism is out of balance and more building than breaking down occurs. As a result of this bone turnover impairment, the mass of your bones increase and they become more fragile.
In regards to health conditions involving a disruption of bone maintenance, osteoporosis and osteomalacia are far more common.
Osteopetrosis Symptoms
Mild osteopetrosis may cause no symptoms or problems like frequent fractures, osteoarthritis and osteomyelitis. In severe cases, the thickening of bone can cause additional bone marrow abnormalities and nerve functioning problems, leading to symptoms such as:
- deafness
- blindness
- facial paralysis
- nerve entrapment
- anemia ~ red blood cell deficiency
- excessive bleeding ~ platelet deficiency
- recurrent infections ~ white blood cell deficiency (immunodeficiency)
Osteopetrosis may present at infancy, during childhood or in adulthood. The infant form is often fatal, one main reason for this outcome is because of bone marrow failure.
Osteopetrosis Treatment
Treatment for ostepetrosis will depend on severity and symptoms. Some are treated with vitamin D, gamma interferon, erythropoetin and corticosteroids. For osteopetrosis cases that severely affect bone marrow function a transplant may be required for survival.