A Biggin1,2, C F Munns3,4. 1. Institute of Endocrinology & Diabetes, Children's Hospital Westmead, Westmead, NSW, Australia. andrew.biggin@health.nsw.gov.au. 2. Discipline of Child & Adolescent Health, University of Sydney, Locked Bag 4001, Westmead, NSW, 2145, Australia. andrew.biggin@health.nsw.gov.au. 3. Institute of Endocrinology & Diabetes, Children's Hospital Westmead, Westmead, NSW, Australia. 4. Discipline of Child & Adolescent Health, University of Sydney, Locked Bag 4001, Westmead, NSW, 2145, Australia.
Abstract
PURPOSE OF REVIEW: Osteogenesis imperfecta (OI) is a genetic bone disorder resulting in bone fragility. It has a heterogeneous phenotype which typically includes reduced bone mass, multiple fractures, deformity, and chronic disability. Bisphosphonate treatment remains the first-line medical management, but there is still debate on aspects of its effectiveness. This review summarizes current knowledge about long-term bisphosphonate use in OI with recommendations on clinical application. RECENT FINDINGS: Bisphosphonates increase bone mineral density, most notably of the vertebrae, and reduce fracture risk in the pediatric OI population. Gains in strength and mobility, together with the permissive effect on orthopedic surgery (e.g., in combination with intramedullary rodding) and physiotherapy, have resulted in improved quality of life for those with OI. As experience in its use continues, the risks and benefits of long-term bisphosphonate treatment in OI are slowly emerging. Patient registries containing data on genotype, phenotype, fractures, bisphosphonate treatment, orthopedic intervention, and functional outcomes are essential for systematic evaluation given the lack of large multi-centered randomized control trials.
PURPOSE OF REVIEW: Osteogenesis imperfecta (OI) is a genetic bone disorder resulting in bone fragility. It has a heterogeneous phenotype which typically includes reduced bone mass, multiple fractures, deformity, and chronic disability. Bisphosphonate treatment remains the first-line medical management, but there is still debate on aspects of its effectiveness. This review summarizes current knowledge about long-term bisphosphonate use in OI with recommendations on clinical application. RECENT FINDINGS:Bisphosphonates increase bone mineral density, most notably of the vertebrae, and reduce fracture risk in the pediatric OI population. Gains in strength and mobility, together with the permissive effect on orthopedic surgery (e.g., in combination with intramedullary rodding) and physiotherapy, have resulted in improved quality of life for those with OI. As experience in its use continues, the risks and benefits of long-term bisphosphonate treatment in OI are slowly emerging. Patient registries containing data on genotype, phenotype, fractures, bisphosphonate treatment, orthopedic intervention, and functional outcomes are essential for systematic evaluation given the lack of large multi-centered randomized control trials.
Entities:
Keywords:
Bisphosphonate; Bone fragility; Fractures; Osteogenesis imperfecta; Pamidronate; Zoledronate
Authors: Paul Humbert; Meadhbh Á Brennan; Noel Davison; Philippe Rosset; Valérie Trichet; Frédéric Blanchard; Pierre Layrolle Journal: Front Immunol Date: 2019-04-02 Impact factor: 7.561