Severe Osteoporosis With Pathogenic LRP5 Variant

Felicity Stringer; Natalie A Sims; Nirupa Sachithanandan; Jasna Aleksova

doi:10.1210/jcemcr/luae021

Severe Osteoporosis With Pathogenic LRP5 Variant

JCEM Case Rep. 2024 Feb 23;2(3):luae021. doi: 10.1210/jcemcr/luae021. eCollection 2024 Mar.

Authors

Felicity Stringer¹, Natalie A Sims^{2

3}, Nirupa Sachithanandan^{1

3}, Jasna Aleksova^{1

4

5}

Affiliations

¹ Department of Endocrinology, St Vincent's Hospital Melbourne, Fitzroy, Melbourne, VIC 3065, Australia.
² St Vincent's Institute of Medical Research, Fitzroy, Melbourne, VIC 3065, Australia.
³ Melbourne Medical School, The University of Melbourne, Parkville, VIC 3052, Australia.
⁴ Department of Medicine, Monash University, Clayton, VIC 3168, Australia.
⁵ Centre for Endocrinology and Metabolism, Hudson Institute of Medical Research, Clayton, VIC 3168, Australia.

Abstract

A 24-year-old female patient was diagnosed with osteoporosis after presenting with numerous fractures throughout her childhood and adolescence. Risk factors included chronic constipation, severe vitamin D deficiency, and long-term high-dose steroid use for severe eczema. Metabolic bone disorder clinical exome screening (limited panel of metabolic bone disorders and gastrointestinal disorders) was undertaken and revealed a class 4 likely pathogenic variant in the LRP5 gene known to cause osteoporosis. Optimal treatment for patients with this variant is not well defined. A literature review of the condition and potential treatment options is discussed.

Keywords: LRP5; Wnt signaling pathway; osteoporosis; romosozumab.

Publication types

Case Reports