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LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature
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 hist...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer London
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474981/ https://www.ncbi.nlm.nih.gov/pubmed/37659026 http://dx.doi.org/10.1007/s11657-023-01319-6 |
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author | De Mattia, Giammarco Maffi, Michele Mosca, Marta Mazzantini, Maurizio |
author_facet | De Mattia, Giammarco Maffi, Michele Mosca, Marta Mazzantini, Maurizio |
author_sort | De Mattia, Giammarco |
collection | PubMed |
description | 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 affected woman with neurological manifestations. RESULTS: A 44-year-old Caucasian woman with torus palatinus complained of headache, hypo-/anosmia, and complete mixed deafness. Dual-energy X-ray absorptiometry (DEXA) scan revealed elevated bone mass. The A242T mutation of the LRP5 gene was detected. Including the present case, 155 patients have been reported to date. Neurological involvement and increased serum alkaline phosphatase (ALP) were present in 19.4% and 3.7% of cases, respectively. Facial changes and torus palatinus were observed in 61% and 41% of cases, respectively. CONCLUSIONS: We present the only historical review on Worth-type endosteal hyperostosis, now known as LRP5 HBM. Neurological manifestations, previously considered absent in the disease, affect 19.4% of the patients. Genetic analysis and appropriate denomination of LRP5 HBM are fundamental for diagnosis and to mitigate the confusion that has long characterized this disease. |
format | Online Article Text |
id | pubmed-10474981 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Springer London |
record_format | MEDLINE/PubMed |
spelling | pubmed-104749812023-09-04 LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature De Mattia, Giammarco Maffi, Michele Mosca, Marta Mazzantini, Maurizio Arch Osteoporos Review Article 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 affected woman with neurological manifestations. RESULTS: A 44-year-old Caucasian woman with torus palatinus complained of headache, hypo-/anosmia, and complete mixed deafness. Dual-energy X-ray absorptiometry (DEXA) scan revealed elevated bone mass. The A242T mutation of the LRP5 gene was detected. Including the present case, 155 patients have been reported to date. Neurological involvement and increased serum alkaline phosphatase (ALP) were present in 19.4% and 3.7% of cases, respectively. Facial changes and torus palatinus were observed in 61% and 41% of cases, respectively. CONCLUSIONS: We present the only historical review on Worth-type endosteal hyperostosis, now known as LRP5 HBM. Neurological manifestations, previously considered absent in the disease, affect 19.4% of the patients. Genetic analysis and appropriate denomination of LRP5 HBM are fundamental for diagnosis and to mitigate the confusion that has long characterized this disease. Springer London 2023-09-02 2023 /pmc/articles/PMC10474981/ /pubmed/37659026 http://dx.doi.org/10.1007/s11657-023-01319-6 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Review Article De Mattia, Giammarco Maffi, Michele Mosca, Marta Mazzantini, Maurizio LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature |
title | LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature |
title_full | LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature |
title_fullStr | LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature |
title_full_unstemmed | LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature |
title_short | LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature |
title_sort | lrp5 high bone mass (worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474981/ https://www.ncbi.nlm.nih.gov/pubmed/37659026 http://dx.doi.org/10.1007/s11657-023-01319-6 |
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