2021
DOI: 10.5606/tftrd.2021.5248
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Is there a familial predisposition to bisphosphonate-induced atypical femoral fractures?

Abstract: Bisphosphonates are commonly used in the treatment of osteoporosis. Atypical femoral fracture (AFF) is a well-known adverse effect of bisphosphonate use. The importance of genetic factors has been demonstrated in bone quality, bone turnover, and in the response to osteoporosis treatment. Herein, we present two cases of bilateral AFFs after bisphosphonate use for a short period of time in members of the same family (mother and her daughter) and discuss genetic predisposition to bisphosphonate-induced AFFs in th… Show more

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Cited by 3 publications
(2 citation statements)
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“…The bilateral nature of the potential risk for an AFF may also indicate that a genetic component is involved. [28][29][30] This conclusion has been supported by recent reports indicating the potential involvement of missense mutations in the CYP1A1 gene [31] and the ENPP1 gene, [32] as well as osteomalacia causing genes. [32] The potential role of the indicated genes and others in AFF [33] has recently been reviewed by Serra-Vinardell et al [27] Interestingly, CYPA1 can be expressed by multiple cell types and is upregulated by hypoxia in human ECs.…”
Section: Characteristics Of Aff and Those Patients At Risksupporting
confidence: 64%
See 1 more Smart Citation
“…The bilateral nature of the potential risk for an AFF may also indicate that a genetic component is involved. [28][29][30] This conclusion has been supported by recent reports indicating the potential involvement of missense mutations in the CYP1A1 gene [31] and the ENPP1 gene, [32] as well as osteomalacia causing genes. [32] The potential role of the indicated genes and others in AFF [33] has recently been reviewed by Serra-Vinardell et al [27] Interestingly, CYPA1 can be expressed by multiple cell types and is upregulated by hypoxia in human ECs.…”
Section: Characteristics Of Aff and Those Patients At Risksupporting
confidence: 64%
“…[ 27 ] Thus, any proposed mechanism must account for both the location and the time frame for development. The bilateral nature of the potential risk for an AFF may also indicate that a genetic component is involved. [ 28–30 ] This conclusion has been supported by recent reports indicating the potential involvement of missense mutations in the CYP1A1 gene [ 31 ] and the ENPP1 gene, [ 32 ] as well as osteomalacia causing genes. [ 32 ] The potential role of the indicated genes and others in AFF [ 33 ] has recently been reviewed by Serra‐Vinardell et al.…”
Section: Characteristics Of Aff and Those Patients At Riskmentioning
confidence: 55%