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Fibrogenesis Imperfecta Ossium

Calcified Tissue International volume 104, pages 561–569 (2019)Cite this article

Abstract

Fibrogenesis imperfecta ossium (FIO) is an extremely uncommon fatal bone disorder of poorly understood etiology. The pathogenesis of FIO is not well known. The fundamental skeletal defect appears to be an abnormality in organic matrix of bone characterized by defective mineralization of the abnormal collagen. FIO clinically manifests in middle-aged adults presenting with fracture and bone pain. Elevated serum alkaline phosphatase is the only and the most consistent biochemical abnormality. Although paraproteinemia is observed in one-third of cases, the pathogenic link to the disease process is unclear. Limited information on FIO and its close resemblance to many metabolic bone disorders leads to delayed or missed diagnoses and management. Prednisolone, bisphosphonates, melphalan and steroids have been tried previously with variable success. Recently, a trial of recombinant growth hormone therapy was found to be effective. Further research focused on the pathogenetic mechanisms of FIO is needed to identify and develop targeted therapeutic options.

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Acknowledgments

All authors participated in the conception, design, writing, and review of the manuscript.

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Affiliations

  1. Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

    Sanjay Kumar Bhadada & Vandana Dhiman

  2. Endocrinology Diabetes & Metabolism, State University of New York Upstate Medical University, Syracuse, NY, USA

    Ruban Dhaliwal

  3. Bone & Mineral Research Laboratory, Henry Ford Health System, Detroit, MI, USA

    Sudhaker D. Rao

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  1. Sanjay Kumar Bhadada
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  2. Ruban Dhaliwal
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  3. Vandana Dhiman
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  4. Sudhaker D. Rao
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Correspondence to Sanjay Kumar Bhadada.

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Sanjay Kumar Bhadada, Ruban Dhaliwal, Vandana Dhiman and Sudhaker D. Rao have no related conflicts of interests.

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Bhadada, S.K., Dhaliwal, R., Dhiman, V. et al. Fibrogenesis Imperfecta Ossium. Calcif Tissue Int 104, 561–569 (2019). https://doi.org/10.1007/s00223-019-00547-8

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  • DOI: https://doi.org/10.1007/s00223-019-00547-8

Keywords

  • Osteomalacia
  • Fragility fracture
  • Pseudo-fracture
  • Growth hormone
  • Insulin-like growth factor