Skip to main content

Advertisement

SpringerLink
Log in

Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta

  • Original Article
  • Published:
Journal of Bone and Mineral Metabolism Aims and scope Submit manuscript

Abstract

Osteogenesis imperfecta (OI) is a connective tissue disease with bone fragility. Several studies have indicated that physical function in adult OI was correlated to the disease severity, but there have been no reports delineating the impact of the fracture characteristics and disease-specific complications on health-related quality of life (HRQoL). The purpose of this study is to clarify the factors impacted on HRQoL in adult OI patients. We conducted a cross-sectional study between July 2016 and March 2018 and sent a questionnaire regarding HRQoL using Short Form-36 (SF-36) to the OI patients at the age of 20 years or older who had a medical history of the investigators’ institutions. The 40 patients completely answered the SF-36. Mental component summary and role/social component summary were unremarkable. Physical component summary (PCS) was significantly associated with z-score for height, teeth abnormality, and cardiopulmonary insufficiency (partial regression coefficient, 3.04, − 9.70, and − 11.35; p, < 0.001, 0.047, and 0.025, respectively). PCS was also significantly lower in the patients who had an initial fracture before the age of 2 years than those without occurrence of fractures until 2 years old (25.80 ± 17.15 versus 44.20 ± 16.54; p = 0.002), or those who had lower extremity fractures more than five times as compared with normal populations. Physical function was decreased in OI patients who had fractures before 2 years old, especially in lower extremity. Appropriate medical managements for cardiopulmonary insufficiency are required not only to maintain physical function but also to decrease mortality.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Andersen PE Jr, Hauge M (1989) Osteogenesis imperfecta: a genetic, radiological, and epidemiological study. Clin Genet 36:250–255

    Article  Google Scholar 

  2. Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101–116

    Article  CAS  Google Scholar 

  3. Van Dijk FS, Sillence DO (2014) Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 164A:1470–1481. https://doi.org/10.1002/ajmg.a.36545

    Article  PubMed  Google Scholar 

  4. Ben Amor IM, Roughley P, Glorieux FH, Rauch F (2013) Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. J Bone Miner Res 28:2001–2007. https://doi.org/10.1002/jbmr.1942

    Article  CAS  PubMed  Google Scholar 

  5. Chevrel G, Meunier PJ (2001) Osteogenesis imperfecta: lifelong management is imperative and feasible. Jt Bone Spine 68:125–129

    Article  CAS  Google Scholar 

  6. Paterson CR, McAllion S, Stellman JL (1984) Osteogenesis imperfecta after the menopause. N Engl J Med 310:1694–1696. https://doi.org/10.1056/NEJM198406283102602

    Article  CAS  PubMed  Google Scholar 

  7. Forlino A, Marini JC (2016) Osteogenesis imperfecta. Lancet 387:1657–1671. https://doi.org/10.1016/S0140-6736(15)00728-X

    Article  CAS  PubMed  Google Scholar 

  8. Pillion JP, Shapiro J (2008) Audiological findings in osteogenesis imperfecta. J Am Acad Audiol 19:595–601

    Article  Google Scholar 

  9. Foster BL, Ramnitz MS, Gafni RI, Burke AB, Boyce AM, Lee JS, Wright JT, Akintoye SO, Somerman MJ, Collins MT (2014) Rare bone diseases and their dental, oral, and craniofacial manifestations. J Dent Res 93:7S–19S. https://doi.org/10.1177/0022034514529150

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Radunovic Z, Wekre LL, Diep LM, Steine K (2011) Cardiovascular abnormalities in adults with osteogenesis imperfecta. Am Heart J 161:523–529. https://doi.org/10.1016/j.ahj.2010.11.006

    Article  PubMed  Google Scholar 

  11. Marini JC, Bordenick S, Heavner G, Rose S, Chrousos GP (1993) Evaluation of growth hormone axis and responsiveness to growth stimulation of short children with osteogenesis imperfecta. Am J Med Genet 45:261–264. https://doi.org/10.1002/ajmg.1320450223

    Article  CAS  PubMed  Google Scholar 

  12. McKiernan FE (2005) Musculoskeletal manifestations of mild osteogenesis imperfecta in the adult. Osteoporos Int 16:1698–1702. https://doi.org/10.1007/s00198-005-1905-5

    Article  PubMed  Google Scholar 

  13. Ware JE Jr, Sherbourne CD (1992) The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 30:473–483

    Article  Google Scholar 

  14. Tosi LL, Oetgen ME, Floor MK, Huber MB, Kennelly AM, McCarter RJ, Rak MF, Simmonds BJ, Simpson MD, Tucker CA, McKiernan FE (2015) Initial report of the osteogenesis imperfecta adult natural history initiative. Orphanet J Rare Dis 10:146. https://doi.org/10.1186/s13023-015-0362-2

    Article  PubMed  PubMed Central  Google Scholar 

  15. Folkestad L, Hald JD, Ersboll AK, Gram J, Hermann AP, Langdahl B, Abrahamsen B, Brixen K (2017) Fracture rates and fracture sites in patients with osteogenesis imperfecta: a nationwide register-based cohort study. J Bone Miner Res 32:125–134. https://doi.org/10.1002/jbmr.2920

    Article  PubMed  Google Scholar 

  16. Fukuhara S, Ware JE Jr, Kosinski M, Wada S, Gandek B (1998) Psychometric and clinical tests of validity of the Japanese SF-36 health survey. J Clin Epidemiol 51:1045–1053

    Article  CAS  Google Scholar 

  17. Fukuhara S, Bito S, Green J, Hsiao A, Kurokawa K (1998) Translation, adaptation, and validation of the SF-36 health survey for use in Japan. J Clin Epidemiol 51:1037–1044

    Article  CAS  Google Scholar 

  18. Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA et al (2019) Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Genet Med 21:275–283. https://doi.org/10.1038/s41436-018-0045-1

    Article  CAS  PubMed  Google Scholar 

  19. Hald JD, Folkestad L, Harslof T, Brixen K, Langdahl B (2017) Health-related quality of life in adults with osteogenesis imperfecta. Calcif Tissue Int 101:473–478. https://doi.org/10.1007/s00223-017-0301-4

    Article  CAS  PubMed  Google Scholar 

  20. Malmgren B, Andersson K, Lindahl K, Kindmark A, Grigelioniene G, Zachariadis V, Dahllof G, Astrom E (2017) Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. Oral Dis 23:42–49. https://doi.org/10.1111/odi.12568

    Article  CAS  PubMed  Google Scholar 

  21. Malmgren B, Norgren S (2002) Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand 60:65–71

    Article  Google Scholar 

  22. Singer RB, Ogston SA, Paterson CR (2001) Mortality in various types of osteogenesis imperfecta. J Insur Med 33:216–220

    CAS  PubMed  Google Scholar 

  23. McAllion SJ, Paterson CR (1996) Causes of death in osteogenesis imperfecta. J Clin Pathol 49:627–630

    Article  CAS  Google Scholar 

  24. Folkestad L, Hald JD, Canudas-Romo V, Gram J, Hermann AP, Langdahl B, Abrahamsen B, Brixen K (2016) Mortality and causes of death in patients with osteogenesis imperfecta: a register-based nationwide cohort study. J Bone Miner Res 31:2159–2166. https://doi.org/10.1002/jbmr.2895

    Article  CAS  PubMed  Google Scholar 

  25. Criscitiello MG, Ronan JA Jr, Besterman EM, Schoehwetter W (1965) Cardiovascular abnormalities in osteogenesis imperfecta. Circulation 31:255–262

    Article  CAS  Google Scholar 

  26. Stein D, Kloster FE (1977) Valvular heart disease in osteogenesis imperfecta. Am Heart J 94:637–641

    Article  CAS  Google Scholar 

  27. Lamanna A, Fayers T, Clarke S, Parsonage W (2013) Valvular and aortic diseases in osteogenesis imperfecta. Heart Lung Circ 22:801–810. https://doi.org/10.1016/j.hlc.2013.05.640

    Article  PubMed  Google Scholar 

  28. White NJ, Winearls CG, Smith R (1983) Cardiovascular abnormalities in osteogenesis imperfecta. Am Heart J 106:1416–1420

    Article  CAS  Google Scholar 

  29. Kalath S, Tsipouras P, Silver FH (1987) Increased aortic root stiffness associated with osteogenesis imperfecta. Ann Biomed Eng 15:91–99

    Article  CAS  Google Scholar 

  30. Hortop J, Tsipouras P, Hanley JA, Maron BJ, Shapiro JR (1986) Cardiovascular involvement in osteogenesis imperfecta. Circulation 73:54–61

    Article  CAS  Google Scholar 

  31. Thiele F, Cohrs CM, Flor A, Lisse TS, Przemeck GK, Horsch M, Schrewe A, Gailus-Durner V, Ivandic B, Katus HA, Wurst W, Reisenberg C, Chaney H, Fuchs H, Hans W, Beckers J, Marini JC, Hrabe de Angelis M (2012) Cardiopulmonary dysfunction in the osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. Hum Mol Genet 21:3535–3545. https://doi.org/10.1093/hmg/dds183

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Scollan JP, Jauregui JJ, Jacobsen CM, Abzug JM (2017) The outcomes of nonelongating intramedullary fixation of the lower extremity for pediatric osteogenesis imperfecta patients: a meta-analysis. J Pediatr Orthop 37:e313–e316. https://doi.org/10.1097/BPO.0000000000000970

    Article  PubMed  Google Scholar 

  33. Dwan K, Phillipi CA, Steiner RD, Basel D (2016) Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev 10:CD005088. https://doi.org/10.1002/14651858.cd005088.pub4

    Article  PubMed  Google Scholar 

  34. Letocha AD, Cintas HL, Troendle JF, Reynolds JC, Cann CE, Chernoff EJ, Hill SC, Gerber LH, Marini JC (2005) Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement. J Bone Miner Res 20:977–986. https://doi.org/10.1359/JBMR.050109

    Article  CAS  PubMed  Google Scholar 

  35. Palomo T, Fassier F, Ouellet J, Sato A, Montpetit K, Glorieux FH, Rauch F (2015) Intravenous bisphosphonate therapy of young children with osteogenesis imperfecta: skeletal findings during follow up throughout the growing years. J Bone Miner Res 30:2150–2157. https://doi.org/10.1002/jbmr.2567

    Article  CAS  PubMed  Google Scholar 

  36. Lindahl K, Kindmark A, Rubin CJ, Malmgren B, Grigelioniene G, Soderhall S, Ljunggren O, Astrom E (2016) Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with pamidronate. Bone 87:11–18. https://doi.org/10.1016/j.bone.2016.02.015

    Article  CAS  PubMed  Google Scholar 

  37. Bishop N, Adami S, Ahmed SF, Anton J, Arundel P et al (2013) Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet 382:1424–1432. https://doi.org/10.1016/S0140-6736(13)61091-0

    Article  CAS  PubMed  Google Scholar 

  38. Sakkers R, Kok D, Engelbert R, van Dongen A, Jansen M, Pruijs H, Verbout A, Schweitzer D, Uiterwaal C (2004) Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study. Lancet 363:1427–1431. https://doi.org/10.1016/S0140-6736(04)16101-1

    Article  CAS  PubMed  Google Scholar 

  39. Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R (1998) Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 339:947–952. https://doi.org/10.1056/NEJM199810013391402

    Article  CAS  PubMed  Google Scholar 

  40. Feehan AG, Zacharin MR, Lim AS, Simm PJ (2018) A comparative study of quality of life, functional and bone outcomes in osteogenesis imperfecta with bisphosphonate therapy initiated in childhood or adulthood. Bone 113:137–143. https://doi.org/10.1016/j.bone.2018.05.021

    Article  CAS  PubMed  Google Scholar 

  41. Ablon J (2003) Personality and stereotype in osteogenesis imperfecta: behavioral phenotype or response to life’s hard challenges? Am J Med Genet A 122A:201–214. https://doi.org/10.1002/ajmg.a.20257

    Article  PubMed  Google Scholar 

  42. Reite M, Davis K, Solomons C, Ott J (1972) Osteogenesis imperfecta: psychological function. Am J Psychiatry 128:1540–1546. https://doi.org/10.1176/ajp.128.12.1540

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

This work was supported by Health Labour Sciences Research Grants, the Ministry of Health, Labour and Welfare, Japan.

Author information

Authors and Affiliations

  1. Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya, 466-8550, Japan

    Masaki Matsushita, Kenichi Mishima, Naoki Ishiguro & Hiroshi Kitoh

  2. Medical IT Center, Nagoya University Hospital, Nagoya, Japan

    Satoshi Yamashita

  3. Department of Rehabilitation Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan

    Nobuhiko Haga & Sayaka Fujiwara

  4. Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan

    Keiichi Ozono, Takuo Kubota & Taichi Kitaoka

  5. Department of Orthopaedic Surgery, Aichi Children’s Health and Medical Center, Obu, Japan

    Hiroshi Kitoh

Authors
  1. Masaki Matsushita
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Kenichi Mishima
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Satoshi Yamashita
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Nobuhiko Haga
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Sayaka Fujiwara
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Keiichi Ozono
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Takuo Kubota
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Taichi Kitaoka
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Naoki Ishiguro
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Hiroshi Kitoh
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Masaki Matsushita.

Ethics declarations

Conflict of interest

Each author certifies that he or she has no commercial associations that might pose a conflict of interest in connection with the submitted article.

Ethical approval

This study was approved by institutional review board of our institutions (reference number: 2015-0412).

Informed consent

We obtained informed consent from all participant patients.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOCX 28 kb)

Supplementary material 2 (DOCX 27 kb)

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Matsushita, M., Mishima, K., Yamashita, S. et al. Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta. J Bone Miner Metab 38, 109–116 (2020). https://doi.org/10.1007/s00774-019-01033-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00774-019-01033-9

Keywords

Search

Navigation