Osteopetrosis Guidelines

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

Consensus guidelines from the Osteopetrosis Working Group give recommendations for patients with less severe forms of osteopetrosis where hematopoietic cell transplantation is not the standard treatment. The recommendations include [23] :

  • A diagnosis can be made by characteristic radiographic findings
  • Genetic testing can identify mutations associated with unique disease complications
  • Patients should be continually monitored for changes in mineral metabolism and other complications including cranial nerve impingement, anemia, leukopenia, and dental disease
  • Calcitriol should not be used in high doses and symptom-based supportive therapy is recommended for disease complications as there is no effective treatment for non-infantile osteopetrosis