Osteopetrosis Treatment & Management

Updated: Sep 11, 2017
  • Author: Robert Blank, MD, PhD; Chief Editor: George T Griffing, MD  more...
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Approach Considerations

Infantile osteopetrosis

Infantile osteopetrosis warrants treatment because of the adverse outcome associated with the disease. [18] Vitamin D (calcitriol) appears to help by stimulating dormant osteoclasts, thus stimulating bone resorption. Large doses of calcitriol, along with restricted calcium intake, sometimes improve osteopetrosis dramatically. [19] However, calcitriol usually produces only modest clinical improvement, which is not sustained after therapy is discontinued.

Treatment with gamma interferon has produced long-term benefits. It improves white blood cell function, greatly decreasing the incidence of new infections. With treatment, trabecular bone volume substantially decreases and bone-marrow volume increases. This results in increases in hemoglobin, platelet counts, and survival rates. Combination therapy with calcitriol is clearly superior to calcitriol alone.

Erythropoietin can be used to correct anemia. Corticosteroids have also been used to treat anemia, as well as to stimulate bone resorption. In one study, corticosteroids resulted in a striking increase in red blood cell 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/day is usually administered for months to years. Steroids are not the preferred treatment option.

Adult osteopetrosis

Adult osteopetrosis requires no treatment by itself, although complications of the disease may require intervention. No specific medical treatment exists for the adult type.

Surgical treatment

In pediatric osteopetrosis, surgical treatment is sometimes necessary because of fractures. The constellation of problems associated with this condition and the prevailing opinions regarding their management have been reviewed. [20]

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.


Refer patients to an endocrinologist with special interest and experience in bone and mineral metabolism. A patient-oriented Web site provides the names of several experts in the field.


Nutritional support is important to improve patient growth. It also enhances responsiveness to other treatment options. A calcium-deficient diet has shown some success in patients. However, patients may need calcium if hypocalcemia or rickets becomes a problem.


Bone Marrow Transplantation

BMT markedly improves some cases of infantile osteopetrosis. [21] BMT can cure bone marrow failure and metabolic abnormalities in patients whose disease arises from an intrinsic defect of the osteoclast lineage.

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. Magnetic resonance imaging (MRI) can be used to assess bones over time after BMT.

Hypercalcemia in bone marrow transplantation

Hypercalcemia can occur following hematopoietic cell transplantation (HCT), owing to the engraftment of osteoclasts arising from precursor cells. In a study of 15 patients with osteopetrosis, Martinez et al found that posttransplantation hypercalcemia developed in 40% of these individuals, occurring primarily in patients over age 2 years at the time of the HCT; the median time to onset was 23 days. [22] The hypercalcemia resolved following treatment with isotonic saline, furosemide, and subcutaneous calcitonin.