Advances in the Classification and Treatment of Osteogenesis Imperfecta

Inas H. Thomas, Linda DiMeglio

Research output: Contribution to journalArticle

27 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1-9
Number of pages9
JournalCurrent Osteoporosis Reports
Volume14
Issue number1
DOIs
StatePublished - Feb 1 2016

Keywords

  • Bisphosphonate
  • Brittle bone disease
  • Fracture
  • Osteogenesis imperfecta
  • Skeletal dysplasia
  • Type 1 collagen

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism

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