ADULT OSTEOPOROSIS WITH A HISTORY OF CHILDHOOD-ONSET FRACTURE DUE TO AN LRP5 RECEPTOR VARIANT MUTATION

This case highlights the value of genetic screening for idiopathic osteoporosis with recurrent fractures. Case report and review of the literature. A 52-year-old Caucasian female with idiopathic osteoporosis with recurrent fractures was identified with a heterozygous low-density lipoprotein receptor...

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Published in:AACE clinical case reports 2019-11, Vol.5 (6), p.e362-e364
Main Authors: Shin, Terry, Shapiro, Jay R
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description This case highlights the value of genetic screening for idiopathic osteoporosis with recurrent fractures. Case report and review of the literature. A 52-year-old Caucasian female with idiopathic osteoporosis with recurrent fractures was identified with a heterozygous low-density lipoprotein receptor related protein 5 (LRP5) mutation. This case highlights the variability in clinical expression of LRP5 polymorphisms and suggests that standard treatment in cases of recurrent fracture may be ineffective.
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title ADULT OSTEOPOROSIS WITH A HISTORY OF CHILDHOOD-ONSET FRACTURE DUE TO AN LRP5 RECEPTOR VARIANT MUTATION
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