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Advances in the Classification and Treatment of Osteogenesis Imperfecta

  • Rare Bone Disease (CB Langman and E Shore, Section Editors)
  • Published:
Current Osteoporosis Reports Aims and scope Submit manuscript

Abstract

Osteogenesis imperfecta (OI) is a rare disorder of type 1 collagen with 13 currently identified types attributable to inherited abnormalities in type 1 collagen amount, structure, or processing. The disease is characterized by an increased susceptibility to bony fracture. In addition to the skeletal phenotype, common additional extraskeletal manifestations include blue sclerae, dentinogenesis imperfecta, vascular fragility, and hearing loss. Medical management is focused on minimizing the morbidity of fractures, pain, and bone deformities by maximizing bone health. Along with optimizing Vitamin D status and calcium intake and physical/occupational therapy, individualized surgical treatment may be indicated. Pharmacological therapy with bisphosphonate medications is now routinely utilized for moderate to severe forms and appears to have a good safety profile and bone health benefits. New therapies with other anti-resorptives as well as anabolic agents and transforming growth factor (TGF)β antibodies are in development. Other potential treatment modalities could include gene therapy or mesenchymal cell transplant. In the future, treatment choices will be further individualized in order to reduce disease morbidity and mortality.

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Authors and Affiliations

  1. Section of Pediatric Endocrinology, School of Medicine, University of Michigan, 1500 E. Medical Center Dr., D1205 MPB, SPC 5718, Ann Arbor, MI, 48109, USA

    Inas H. Thomas

  2. Section of Pediatric Endocrinology/Diabetology, School of Medicine, Indiana University, 705 Riley Hospital Drive, Room 5960, Indianapolis, IN, 46202-5225, USA

    Linda A. DiMeglio

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  1. Inas H. Thomas
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Correspondence to Inas H. Thomas.

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Inas H. Thomas declares no conflict of interest. Linda A. DiMeglio reports other payments from AMGEN, outside the submitted work.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Rare Bone Disease

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Thomas, I.H., DiMeglio, L.A. Advances in the Classification and Treatment of Osteogenesis Imperfecta. Curr Osteoporos Rep 14, 1–9 (2016). https://doi.org/10.1007/s11914-016-0299-y

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