Severe Osteoporosis With Pathogenic LRP5 Variant.
JCEM Case Rep
; 2(3): luae021, 2024 Mar.
Article
em En
| MEDLINE
| ID: mdl-38404691
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
JCEM Case Rep
Ano de publicação:
2024
Tipo de documento:
Article