eMedicine Specialties > Endocrinology > Metabolic Bone Disease

Osteopetrosis: Follow-up

Author: Anuj Bhargava, MD,, Adjunct Assistant Professor, Drake College of Pharmacy; Co-Director, Diabetes Institute, Mercy Medical Center; President, Iowa Diabetes and Endocrinology Research Center
Coauthor(s): Robert Blank, MD, PhD, Associate Professor, Section of Endocrinology, University of Wisconsin Medical School; Consulting Staff, William S Middleton Veterans Affairs Medical Center
Contributor Information and Disclosures

Updated: Oct 13, 2009

Follow-up

Deterrence/Prevention

  • Counsel patients on appropriate lifestyle modifications to prevent fractures.
  • Provide genetic counseling to patients to allow appropriate family planning.

Complications

  • Infantile osteopetrosis
    • Bone marrow failure may occur, resulting in severe anemia, bleeding, or infections.
    • Growth retardation and failure to thrive can occur.

Prognosis

  • Infantile osteopetrosis
    • If untreated, infantile osteopetrosis usually results in death by the first decade of life due to severe anemia, bleeding, or infections.
    • Patients fail to thrive, have growth retardation, and suffer increased morbidity.
    • The prognosis of some patients can markedly change after BMT.
  • Adult osteopetrosis: Patients have good long-term survival rates.

Miscellaneous

Medicolegal Pitfalls

  • In the differential diagnosis, include conditions that can result in diffuse osteosclerosis.
  • Such conditions may include congenital disorders (eg, pyknodysostosis, hypoparathyroidism, pseudohypoparathyroidism), chemical poisoning (eg, fluoride, lead, beryllium), malignancies (leukemia, myeloproliferative diseases), and sickle cell disease.
 


More on Osteopetrosis

Overview: Osteopetrosis
Differential Diagnoses & Workup: Osteopetrosis
Treatment & Medication: Osteopetrosis
Follow-up: Osteopetrosis
References
Further Reading

References

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Further Reading

Clinical guidelines:
Evaluating infants and young children with multiple fractures. American Academy of Pediatrics - Medical Specialty Society. 2006 Sep. 5 pages. NGC:005253

Clinical trials:
Allogeneic Transplantation For Severe Osteopetrosis

rhPTH Therapy for Low Turnover Bone Fragility

Keywords

osteopetrosis, osteoclast, osteoblast osteoclast, osteosclerosis, osteosclerotic, Albers-Schönberg disease, marble bone disease, osteoclastic bone resorption, infantile osteopetrosis, infantile malignant osteopetrosis, adult osteopetrosis, benign osteopetrosis

Contributor Information and Disclosures

Author

Anuj Bhargava, MD,, Adjunct Assistant Professor, Drake College of Pharmacy; Co-Director, Diabetes Institute, Mercy Medical Center; President, Iowa Diabetes and Endocrinology Research Center
Anuj Bhargava, MD, is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, and American Diabetes Association
Disclosure: Merck Honoraria Speaking, research trials; Novo Nordisk Honoraria Speaking and teaching; Sanofi Honoraria Speaking and teaching; takeda Honoraria Speaking and teaching; Abbott Honoraria Speaking and teaching; Lilly Grant/research funds Research trials; Gilead  Research Trials; Novartis Grant/research funds Research trials; Pfizer Grant/research funds Research trials; Roche Grant/research funds Research trials

Coauthor(s)

Robert Blank, MD, PhD, Associate Professor, Section of Endocrinology, University of Wisconsin Medical School; Consulting Staff, William S Middleton Veterans Affairs Medical Center
Robert Blank, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians, American Society for Bone and Mineral Research, American Society of Human Genetics, Central Society for Clinical Research, Endocrine Society, and International Society for Clinical Densitometry
Disclosure: Novartis Honoraria Speaking and teaching

Medical Editor

Stanley Wallach, MD, Executive Director, American College of Nutrition; Clinical Professor, Department of Medicine, New York University School of Medicine
Stanley Wallach, MD is a member of the following medical societies: American Society for Bone and Mineral Research, American Society for Clinical Investigation, American Society for Clinical Nutrition, American Society for Nutritional Sciences, Association of American Physicians, and Endocrine Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Romesh Khardori, MD, Chief, Division of Endocrinology, Metabolism and Molecular Medicine, Professor, Department of Internal Medicine, Southern Illinois University School of Medicine
Romesh Khardori, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Medical Association, American Society of Andrology, Endocrine Society, and Illinois State Medical Society
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MBBS, PhD, FRACP, Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

 
 
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