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Diseases

Genetic and Rare Diseases Information Center (GARD)

Osteopetrosis


Other Names for this Disease
  • Osteopetroses
  • Marble bones
  • Marble bone disease
  • Albers-Schonberg disease
  • Osteosclerosis fragilis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might osteopetrosis be treated?

Treatment for osteopetrosis depends on the specific symptoms present and the severity in each person. Nutritional support is important to improve growth and it also enhances responsiveness to other treatment options. A calcium-deficient diet has been beneficial for some affected people.

Treatment is necessary for the infantile form:
  • Vitamin D (calcitriol) appears to stimulate dormant osteoclasts, which stimulates bone resorption. Large doses of calcitriol with restricted calcium intake sometimes improves osteopetrosis dramatically, but the improvement seen with calcitrol is not sustained when therapy is stopped.
  • Gamma interferon can have long-term benefits. It improves white blood cell function (leading to fewer infections), decreases bone volume, and increases bone marrow volume.
  • Erythropoietin can be used for anemia, and corticosteroids  can be used for anemia and to stimulate bone resorption.[1]

Bone marrow transplantation (BMT) markedly improves some cases of severe, infantile osteopetrosis associated with bone marrow failure, and offers the best chance of longer-term survival for individuals with this type.[1][2]

In pediatric (childhood) osteopetrosis, surgery is sometimes needed because of fractures.

Adult osteopetrosis typically does not require treatment, but complications of the condition may require intervention. Surgery may be needed for aesthetic or functional reasons (such as multiple fractures, deformity, and loss of function), or for severe degenerative joint disease.[1]

Last updated: 7/20/2016

References
  1. Robert Blank. Osteopetrosis. Medscape Reference. December 17, 2014; http://emedicine.medscape.com/article/123968-overview.
  2. Zornitza Stark and Ravi Savarirayan. Osteopetrosis. Orphanet. October, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Osteopetrosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.


Generic Name Interferon gamma-1b
Trade Name
(Manufacturer Name)
Actimmune®
(InterMune , Inc.)
Indication
The FDA has approved this product to be used in this manner.
Delaying time to disease progression in patients with severe, malignant osteopetrosis.
More Information about this product Drug Information Portal

Other Names for this Disease
  • Osteopetroses
  • Marble bones
  • Marble bone disease
  • Albers-Schonberg disease
  • Osteosclerosis fragilis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.