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...

Full description

Saved in:
Bibliographic Details
Published in:AACE clinical case reports 2019-11, Vol.5 (6), p.e362-e364
Main Authors: Shin, Terry, Shapiro, Jay R
Format: Article
Language:English
Subjects:
Case Reports
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2376-0605
2376-0605
DOI:10.4158/ACCR-2019-0219.R1