" Infantile osteopetrosis warrants treatment because of the adverse outcome associated with the disease.
o At a recent symposium, researchers described current thinking regarding its pathogenesis and treatment (Symposium on Osteopetrosis, 2004).
o Vitamin D (calcitriol) appears to help by stimulating dormant osteoclasts and thus stimulate bone resorption. Large doses of calcitriol, along with restricted calcium intake, sometimes improve osteopetrosis dramatically (Key, 1984). It usually produces only modest clinical improvement, which is not sustained after therapy is discontinued.
o Treatment with gamma interferon has produced long-term benefits. It improves WBC function, tremendously decreasing the incidence of new infections. With treatment, trabecular bone volume substantially decreases, and bone-marrow volume increases. This effect increases in hemoglobin, platelet counts, and survival rates. Combination therapy with calcitriol is clearly superior to calcitriol alone.
o Erythropoietin can be used to correct anemia.
o Corticosteroids have been used to stimulate bone resorption and treat anemia. In 1 study, corticosteroids resulted in a striking increase in RBC mass and platelet count, but failed to improve bone mass. This effect on blood cells is due to reduced destruction in the reticuloendothelial system. Prednisone 1-2 mg/kg/d is usually administered for months to years. Steroids are not the preferred treatment option.
" Adult osteopetrosis requires no treatment by itself, though complications of the disease might require intervention. No specific medical treatment exists for the adult type.
Surgical Care
" BMT markedly improves some cases of infantile osteopetrosis.
o BMT can cure both bone marrow failure and metabolic abnormalities in patients whose disease arises from an intrinsic defect of the osteoclast lineage.
o BMT is the only curative treatment for this disease. However, BMT may be limited to a subset of patients whose defects are extrinsic to the osteoclast lineage and whose condition is unlikely to respond. Moreover, this approach is limited because an appropriate bone marrow donor is not always found. Also, BMT poses considerable risk because of the necessity for profound immunosuppression and the possibility of a graft-versus-host reaction.
" In pediatric osteopetrosis, surgical treatment is sometimes necessary because of fractures. This constellation of problems and prevailing opinions regarding management has been reviewed (Armstrong, 1999).
" In adult osteopetrosis, surgical treatment may be needed for aesthetic reasons (eg, in patients with notable facial deformity) or for functional reasons (eg, in patients with multiple fractures, deformity, and loss of function). Severe, related degenerative joint disease may warrant surgical intervention as well.
DRUG TREATMENT :
1. VITAMIN D SUPPLIMENTS :
- CALCITRIOL - INLARGE DOSES WITH RESTRICTED CALCIUM INTAKE
2. INTERFERONS
- INTERFERON GAMMA 1B