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Current Osteoporosis Reports

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Open Access 01-04-2021 | Bisphosphonate | Genetics (D Karasik and C Ackert-Bicknell, Section Editors)

The Genetics of Atypical Femur Fractures—a Systematic Review

Authors: Wei Zhou, Jeroen G. J. van Rooij, Peter R. Ebeling, Annemieke J. M. H. Verkerk, M. Carola Zillikens

Published in: Current Osteoporosis Reports | Issue 2/2021

Abstract

Purpose of Review

Atypical femur fractures (AFFs) are rare subtrochanteric or diaphyseal fractures regarded as side effects of bisphosphonates (BPs), possibly with a genetic background. Here, we summarize the most recent knowledge about genetics of AFFs.

Recent Findings

AFF has been reported in 57 patients with seven different monogenic bone disorders including hypophosphatasia and osteogenesis imperfecta; 56.1% had never used BPs, while 17.5% were diagnosed with the disorder only after the AFF. Gene mutation finding in familial and sporadic cases identified possible AFF-related variants in the GGPS1 and ATRAID genes respectively. Functional follow-up studies of mutant proteins showed possible roles in AFF. A recent small genome-wide association study on 51 AFF cases did not identify significant hits associated with AFF.

Summary

Recent findings have strengthened the hypothesis that AFFs have underlying genetic components but more studies are needed in AFF families and larger cohorts of sporadic cases to confirm previous results and/or find novel gene variants involved in the pathogenesis of AFFs.

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Title: The Genetics of Atypical Femur Fractures—a Systematic Review
Authors: Wei Zhou
Jeroen G. J. van Rooij
Peter R. Ebeling
Annemieke J. M. H. Verkerk
M. Carola Zillikens
Publication date: 01-04-2021
Publisher: Springer US
Keywords: Bisphosphonate
Osteoporosis
Osteoporosis
Osteogenesis Imperfecta
Hypophosphatasia
Published in: Current Osteoporosis Reports / Issue 2/2021
Print ISSN: 1544-1873
Electronic ISSN: 1544-2241
DOI: https://doi.org/10.1007/s11914-021-00658-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

The Genetics of Atypical Femur Fractures—a Systematic Review

Abstract

Purpose of Review

Recent Findings

Summary

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose of Review

Recent Findings

Summary

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