LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature

ABSTRACT:

Purpose

LRP5 high bone mass (HBM) is an autosomal dominant endosteal hyperostosis caused by mutations of the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Alternative names included “autosomal dominant osteosclerosis” and “Worth disease.” The aim of the paper is to provide an historical overview of a disorder whose literature is complicated and confusing due to the past use of several denominations and lack of reviews.

Methods

We collected case reports of HBM with evidence of autosomal dominant transmission preceding the identification of the LRP5 mutations in 2002 (Worth-type endosteal hyperostosis) and cases of LRP5 HBM confirmed by genetic analysis since 2002. The prevalence of relevant clinical and laboratory findings was estimated. We described an a

SUBMITTER: De Mattia G 

PROVIDER: S-EPMC10474981 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature