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Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series

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Abstract

Atypical femoral fractures (AFFs) are low-energy femoral fractures with characteristic radiological features and a suspected relation to treatment with bisphosphonate (BP) or denosumab. In osteogenesis imperfecta (OI), BP is currently the drug of choice when medical treatment is indicated. Due to bone deformities, the radiologic appearance of femoral fractures may be different in patients with OI and patients with osteoporosis. We investigated the prevalence and appearance of femoral fractures in a cohort of adult patients with confirmed OI (55 patients, age range 19–69 years, 26 women (47%) and 35 patients (64%) had received BP treatment), who attended the outpatient clinic at Aarhus University Hospital. The fractures were evaluated according to major and minor AFF criteria. In our OI cohort, we found that eight out of 55 patients had suffered a femoral fracture in adult year: five women and three men, aged 25 to 54 years. One patient had OI type I, two had OI type III, four had OI type IV, and one had OI type V. All fractures were associated with no or minimal trauma. Four patients had fractures that fulfilled the criteria of AFFs. Two of the four patients had received long-term BP treatment prior to the fracture and three patients had severe deformities of the femur. Femoral fractures in OI imitate AFFs. This suggests that bone deformity, collagen deficiencies, and alterations in mineralization of bone may cause femoral fractures that imitate AFFs even in the absence of antiresorptive treatment. Bone deformities should be monitored as part of the management of adult patients with OI. Continuous dull or aching pain in the groin or thigh should lead to radiographic examination. The radiologic appearance of femoral fractures may be different in patients with osteogenesis imperfecta (OI) and patients with osteoporosis, thus imitate atypical femoral fractures (AFF). We found that bone deformity, collagen deficiencies, and alterations in bone mineralization may cause femoral fractures that imitate AFFs even in the absence of antiresorptive treatment.

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References

  1. Shane E, Burr D, Abrahamsen B, Adler RA, Brown TD, Cheung AM, Cosman F, Curtis JR, Dell R, Dempster DW, Ebeling PR, Einhorn TA, Genant HK, Geusens P, Klaushofer K, Lane JM, McKiernan F, McKinney R, Ng A, Nieves J, O'Keefe R, Papapoulos S, Howe TS, van der Meulen MC, Weinstein RS, Whyte MP (2014) Atypical subtrochanteric and diaphyseal femoral fractures: second report of a task force of the American Society For Bone And Mineral Research. J Bone Miner Res 29:1–23

    Article  PubMed  Google Scholar 

  2. Adler RA (2018) Management of endocrine disease: atypical femoral fractures: risks and benefits of long-term treatment of osteoporosis with anti-resorptive therapy. Eur J Endocrinol 178:R81–R87

    Article  CAS  PubMed  Google Scholar 

  3. Sillence DO, Rimoin DL, Danks DM (1979) Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser 15:113–129

    CAS  PubMed  Google Scholar 

  4. Rauch F, Glorieux FH (2004) Osteogenesis imperfecta. Lancet 363:1377–1385

    Article  CAS  PubMed  Google Scholar 

  5. Boonen S, Reginster JY, Kaufman JM, Lippuner K, Zanchetta J, Langdahl B, Rizzoli R, Lipschitz S, Dimai HP, Witvrouw R, Eriksen E, Brixen K, Russo L, Claessens F, Papanastasiou P, Antunez O, Su G, Bucci-Rechtweg C, Hruska J, Incera E, Vanderschueren D, Orwoll E (2012) Fracture risk and zoledronic acid therapy in men with osteoporosis. N Engl J Med 367:1714–1723

    Article  CAS  PubMed  Google Scholar 

  6. Black DM, Cummings SR, Karpf DB, Cauley JA, Thompson DE, Nevitt MC, Bauer DC, Genant HK, Haskell WL, Marcus R, Ott SM, Torner JC, Quandt SA, Reiss TF, Ensrud KE (1996) Randomised trial of effect of alendronate on risk of fracture in women with existing vertebral fractures. Fracture intervention trial research group. Lancet 348:1535–1541

    Article  CAS  PubMed  Google Scholar 

  7. Reid DM, Hughes RA, Laan RF, Sacco-Gibson NA, Wenderoth DH, Adami S, Eusebio RA, Devogelaer JP (2000) Efficacy and safety of daily risedronate in the treatment of corticosteroid-induced osteoporosis in men and women: a randomized trial. European corticosteroid-induced osteoporosis treatment study. J Bone Miner Res 15:1006–1013

    Article  CAS  Google Scholar 

  8. Hald JD, Evangelou E, Langdahl BL, Ralston SH (2015) Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo-controlled trials. J Bone Miner Res 30:929–933

    Article  CAS  PubMed  Google Scholar 

  9. Etxebarria-Foronda I, Carpintero P (2015) An atypical fracture in male patient with osteogenesis imperfecta. Clin Cases Miner Bone Metab 12:278–281

    PubMed  PubMed Central  Google Scholar 

  10. Manolopoulos KN, West A, Gittoes N (2013) The paradox of prevention--bilateral atypical subtrochanteric fractures due to bisphosphonates in osteogenesis imperfecta. J Clin Endocrinol Metab 98:871–872

    Article  CAS  PubMed  Google Scholar 

  11. Vasanwala RF, Sanghrajka A, Bishop NJ, Hogler W (2016) Recurrent proximal femur fractures in a teenager with osteogenesis imperfecta on continuous bisphosphonate therapy: are we overtreating? J Bone Miner Res 31:1449–1454

    Article  CAS  PubMed  Google Scholar 

  12. Hald JD, Folkestad L, Harslof T, Lund AM, Duno M, Jensen JB, Neghabat S, Brixen K, Langdahl B (2016) Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure. Osteoporos Int 27:3331–3341

    Article  CAS  PubMed  Google Scholar 

  13. Cundy T, Dray M, Delahunt J, Hald JD, Langdahl B, Li C, Szybowska M, Mohammed S, Duncan EL, McInerney-Leo AM, Wheeler PG, Roschger P, Klaushofer K, Rai J, Weis M, Eyre D, Schwarze U, Byers PH (2018) Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype. J Bone Miner Res 33:1260–1271

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Boyde A, Travers R, Glorieux FH, Jones SJ (1999) The mineralization density of iliac crest bone from children with osteogenesis imperfecta. Calcif Tissue Int 64:185–190

    Article  CAS  PubMed  Google Scholar 

  15. Roschger P, Fratzl-Zelman N, Misof BM, Glorieux FH, Klaushofer K, Rauch F (2008) Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. Calcif Tissue Int 82:263–270

    Article  CAS  PubMed  Google Scholar 

  16. Fratzl-Zelman N, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, Klaushofer K (2004) Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis. J Clin Endocrinol Metab 89:1538–1547

    Article  CAS  PubMed  Google Scholar 

  17. Shane E, Burr D, Ebeling PR, Abrahamsen B, Adler RA, Brown TD, Cheung AM, Cosman F, Curtis JR, Dell R, Dempster D, Einhorn TA, Genant HK, Geusens P, Klaushofer K, Koval K, Lane JM, McKiernan F, McKinney R, Ng A, Nieves J, O'Keefe R, Papapoulos S, Sen HT, van der Meulen MC, Weinstein RS, Whyte M, American Society for Bone and Mineral Research (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 25:2267–2294

    Article  PubMed  Google Scholar 

  18. Acevedo C, Bale H, Gludovatz B, Wat A, Tang SY, Wang M, Busse B, Zimmermann EA, Schaible E, Allen MR, Burr DB, Ritchie RO (2015) Alendronate treatment alters bone tissues at multiple structural levels in healthy canine cortical bone. Bone 81:352–363

    Article  CAS  PubMed  Google Scholar 

  19. Lloyd AA, Gludovatz B, Riedel C, Luengo EA, Saiyed R, Marty E, Lorich DG, Lane JM, Ritchie RO, Busse B, Donnelly E (2017) Atypical fracture with long-term bisphosphonate therapy is associated with altered cortical composition and reduced fracture resistance. Proc Natl Acad Sci U S A 114:8722–8727

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Haider IT, Schneider P, Michalski A, Edwards WB (2018) Influence of geometry on proximal femoral shaft strains: implications for atypical femoral fracture. Bone 110:295–303

    Article  PubMed  Google Scholar 

  21. Taormina DP, Marcano AI, Karia R, Egol KA, Tejwani NC (2014) Symptomatic atypical femoral fractures are related to underlying hip geometry. Bone 63:1–6

    Article  PubMed  Google Scholar 

  22. Oh Y, Wakabayashi Y, Kurosa Y, Ishizuki M, Okawa A (2014) Stress fracture of the bowed femoral shaft is another cause of atypical femoral fracture in elderly japanese: a case series. J Orthop Sci 19:579–586

    Article  PubMed  Google Scholar 

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Andersen, J.D., Bünger, M.H., Rahbek, O. et al. Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series. Osteoporos Int 30, 513–517 (2019). https://doi.org/10.1007/s00198-018-4769-1

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  • DOI: https://doi.org/10.1007/s00198-018-4769-1

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