Osteopetrosis

Osteopetrosis – General Information

Osteopetrosis – Symptoms

Osteopetrosis – Treatment

There are two types of Osteopetrosis that include the infantile form and the adult form. The way that the patients are diagnosed depends on the type of disease they suffer from. There are certain procedures that can be applied to diagnose the infantile form of the condition which can include serum calcium, which generally reflects the oral intake, and if the procedure shows high levels of calcium, the patient is at high risk of developing hypocalcemia, which can cause rickets if the condition is in a severe stage. To diagnose the disease doctors measure the levels of parathyroid hormone, which if it is in elevated amounts it can lead to the appearance of other more severe conditions, such as secondary hyperparathyroidism. A person who suffers from the infantile form of Osteopetrosis presents increased levels of acid phosphatase, due to the increased release from defective bone cells. There are also some particular cases in which increased levels of creatinine kinase isoform BB are a sign of the disease’s presence, due to increased release of defective bone cells. In diagnosing the adult form of the condition the doctors measure the levels of acid phosphatase and CK BB which are often increased. Especially when dealing with this form of the disorder, the patient presents increased levels of bone specific alkaline phosphatase. In most cases, the infantile form of Osteopetrosis is treated with vitamin D or calcitrol, which acts by stimulating dormant bone cells, or osteoclasts, that will eventually stimulate the bone resorption. Usually, increased amounts of vitamin D administered in combination with restricted calcium intake can really improve the patient’s medical status. In some cases, this may only produce modest medical improvement, which is usually not sustained after the patient is stopping the treatment trial.

In some countries doctors can apply therapies with gamma interferon which can achieve long term improvement. In medical terms, it improves the WBC function, decreasing significantly the incidence of other infections. By applying the treatment, the patient’s trabecular bone volume is substantially decreased making the bone marrow volume to increase. After the doctor administrates the treatment, the effects of it can increase the hemoglobin, platelet levels and survival rates. Although the combination of calcitrol with other medicines is much better than the calcitrol given alone, some doctors prescribe treatment trials consisting only in calcitrol. In some cases, doctors can apply erythropoietin to correct the anemia symptoms. If the patient’s condition had progressed to a severe stage, doctors can use corticosteroids to stimulate the bone resoprtion and to treat the anemia symptoms. Scientists showed that these medicines increase the RBC mass and platelet levels, but failed to improve the bone mass. Generally, doctors prescribe prednisone in doses of 2 mg per day, which can be administered months or even years. The adult form of Osteopetrosis may require no treatment at all, but some complications can require certain interventions. If the condition known as Osteopetrosis had progressed to a life threatening stage, doctors can apply bone marrow transplantation, which can assure long term benefits.