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Review article: Biomedical intelligence

Vol. 146 No. 2526 (2016)

Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives

  • Aline Bregou Bourgeois
  • Bérengère Aubry-Rozier
  • Luisa Bonafé
  • Lee Laurent-Applegate
  • Dominique P Pioletti
  • Pierre-Yves Zambelli
DOI
https://doi.org/10.4414/smw.2016.14322
Cite this as:
Swiss Med Wkly. 2016;146:w14322
Published
19.06.2016

Summary

Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone deformities, including long bone bowing and scoliosis. Multidisciplinary management improves quality of life for patients with osteogenesis imperfecta. It consists of physical therapy, medical treatment and orthopaedic surgery as necessary. Medical treatment consists of bone-remodelling drug therapy. Bisphosphonates are widely used in the treatment of moderate to severe osteogenesis imperfecta, from infancy to adulthood. Other more recent drug therapies include teriparatide and denosumab. All these therapies target the symptoms and have effects on the mechanical properties of bone due to modification of bone remodelling, therefore influencing skeletal outcome and orthopaedic surgery. Innovative therapies, such as progenitor and mesenchymal stem cell transplantation, targeting the specific altered pathway rather than the symptoms, are in the process of development.

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