Adult Osteoporosis With a History of Childhood-Onset Fracture Due to an LRP5 Receptor Variant Mutation

ABSTRACT Objective This case highlights the value of genetic screening for idiopathic osteoporosis with recurrent fractures. Methods Case report and review of the literature. Results 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. Conclusion This case highlights the variability in clinical expression of LRP5 polymorphisms and suggests that standard treatment in cases of recurrent fracture may be ineffective.