Irish Journal of Medical Science

, Volume 183, Issue 2, pp 225–230 | Cite as

Osteogenesis imperfecta in adults: phenotypic characteristics and response to treatment in an Irish cohort

  • E. S. O’SullivanEmail author
  • S. van der Kamp
  • M. Kilbane
  • M. McKenna
Original Article



Osteogenesis imperfecta (OI) is a heritable disorder of variable phenotype that is characterised by bone fragility and frequent fractures, with deformities and short stature in more severe cases.


We sought to review the response to treatment in a cohort of adult patients with OI.


Charts of 16 patients with OI attending a metabolic bone disease clinic were reviewed, particularly with respect to the response to treatment using bisphosphonates and recombinant human parathyroid hormone (rhPTH). The response to treatment was assessed by monitoring bone mineral density (BMD) and bone turnover markers (BTMs).


In response to bisphosphonate therapy, median (range) BMD increased at the spine by 15.1(6.9–43.7) %. In response to rhPTH in 2 cases, spinal BMD increased by 40.3 and 27.2 %.


OI is debilitating disorder, but the course of the disease may be altered by treatment that increases BMD such as bisphosphonates and rhPTH. Both serial BMD and BTM aid in assessing response to intervention. Further study is needed with regard to fracture prevention.


Osteogenesis imperfecta Fractures Bone mineral density DXA Bisphosphonates rhPTH Bone turnover markers NTx PINP 


Conflict of interest



  1. 1.
    Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101–116PubMedCentralPubMedCrossRefGoogle Scholar
  2. 2.
    Forlino A, Cabral WA, Barnes AM, Marini JC (2011) New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 7:540–557PubMedCentralPubMedCrossRefGoogle Scholar
  3. 3.
    Semler O, Garbes L, Keupp K et al (2012) A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet 91:349–357PubMedCentralPubMedCrossRefGoogle Scholar
  4. 4.
    Cho TJ, Lee KE, Lee SK et al (2012) A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet 91:343–348PubMedCentralPubMedCrossRefGoogle Scholar
  5. 5.
    Baldridge D, Schwarze U, Morello R et al (2008) CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat 29:1435–1442PubMedCentralPubMedCrossRefGoogle Scholar
  6. 6.
    Rauch F, Glorieux FH (2004) Osteogenesis imperfecta. Lancet 363:1377–1385PubMedCrossRefGoogle Scholar
  7. 7.
    Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM (2010) Classification of osteogenesis imperfecta revisited. Eur J Med Genet 53:1–5PubMedCrossRefGoogle Scholar
  8. 8.
    Warman ML, Cormier-Daire V, Hall C et al (2010) Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A:943–968Google Scholar
  9. 9.
    Devogelaer JP, Malghem J, Maldague B, Nagant de Deuxchaisnes C (1987) Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta. Skeletal Radiol 16:360–363PubMedCrossRefGoogle Scholar
  10. 10.
    Rauch F, Munns CF, Land C, Cheung M, Glorieux FH (2009) Risedronate in the treatment of mild pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Bone Miner Res 24:1282–1289PubMedCrossRefGoogle Scholar
  11. 11.
    Ward LM, Rauch F, Whyte MP et al (2011) Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. J Clin Endocrinol Metab 96:355–364PubMedCrossRefGoogle Scholar
  12. 12.
    Bishop N, Harrison R, Ahmed F et al (2010) A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta. J Bone Miner Res 25:32–40PubMedCrossRefGoogle Scholar
  13. 13.
    Adami S, Gatti D, Colapietro F et al (2003) Intravenous neridronate in adults with osteogenesis imperfecta. J Bone Miner Res 18:126–130PubMedCrossRefGoogle Scholar
  14. 14.
    Chevrel G, Schott AM, Fontanges E et al (2006) Effects of oral alendronate on BMD in adult patients with osteogenesis imperfecta: a 3-year randomized placebo-controlled trial. J Bone Miner Res 21:300–306PubMedCrossRefGoogle Scholar
  15. 15.
    Bradbury LA, Barlow S, Geoghegan F et al (2012) Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. Osteoporos Int 23:285–294PubMedCrossRefGoogle Scholar
  16. 16.
    McKenna MJ, van der Kamp S, Au-Yeong M, FitzGerald O (2008) Improving standards of DXA. Ir Med J 101:101–102PubMedGoogle Scholar
  17. 17.
    Rauch F, Cornibert S, Cheung M, Glorieux FH (2007) Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta. Bone 40:821–827PubMedCrossRefGoogle Scholar
  18. 18.
    Land C, Rauch F, Glorieux FH (2006) Cyclical intravenous pamidronate treatment affects metaphyseal modeling in growing patients with osteogenesis imperfecta. J Bone Miner Res 21:374–379PubMedCrossRefGoogle Scholar
  19. 19.
    Munns CF, Rauch F, Zeitlin L, Fassier F, Glorieux FH (2004) Delayed osteotomy but not fracture healing in pediatric osteogenesis imperfecta patients receiving pamidronate. J Bone Miner Res 19:1779–1786PubMedCrossRefGoogle Scholar
  20. 20.
    Hess LM, Jeter JM, Benham-Hutchins M, Alberts DS (2008) Factors associated with osteonecrosis of the jaw among bisphosphonate users. Am J Med 121(475–83):e3PubMedGoogle Scholar
  21. 21.
    Maines E, Monti E, Doro F, Morandi G, Cavarzere P, Antoniazzi F (2012) Children and adolescents treated with neridronate for osteogenesis imperfecta show no evidence of any osteonecrosis of the jaw. J Bone Miner Metab 30:434–438PubMedCrossRefGoogle Scholar
  22. 22.
    Shane E, Burr D, Ebeling PR et al (2010) Atypical subtrochanteric and diaphyseal femoral fractures: report of a task force of the American Society for Bone and Mineral Research. J Bone Miner Res 25:2267–2294PubMedCrossRefGoogle Scholar
  23. 23.
    Andrews EB, Gilsenan AW, Midkiff K et al (2012) The US postmarketing surveillance study of adult osteosarcoma and teriparatide: study design and findings from the first 7 years. J Bone Miner Res 27:2429–2437PubMedCentralPubMedCrossRefGoogle Scholar
  24. 24.
    Neer RM, Arnaud CD, Zanchetta JR et al (2001) Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis. N Engl J Med 344:1434–1441PubMedCrossRefGoogle Scholar

Copyright information

© Royal Academy of Medicine in Ireland 2013

Authors and Affiliations

  • E. S. O’Sullivan
    • 1
    • 5
    Email author
  • S. van der Kamp
    • 2
  • M. Kilbane
    • 3
  • M. McKenna
    • 1
    • 2
    • 3
    • 4
  1. 1.Department of EndocrinologySt Vincent’s University HospitalDublinIreland
  2. 2.DXA UnitSt Vincent’s University HospitalDublinIreland
  3. 3.Metabolism LaboratorySt Vincent’s University HospitalDublinIreland
  4. 4.School of Medicine and Medical Sciences, University College DublinDublinIreland
  5. 5.Department of EndocrinologyGalway University HospitalGalwayIreland

Personalised recommendations