ReviewArchives of osteoporosis2023
LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature.
Review in Archives of osteoporosis, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.
- Beyond papilledema: optic disc clues reveal coexisting Chiari I malformation and osteopetrosis-a case report and systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Pooled it
- Different Lrp5-HBM mutations induce magnitude- and surface-selective effects that are not explained by receptor trafficking.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Sclerostin's role in bone-muscle crosstalk and osteoporosis pathogenesis.Osteoporosis and sarcopenia · 2025Review
- Diffuse Osteosclerosis in a Young Cat Presenting With Chronic Nasal Congestion: A Case Report.Veterinary medicine and science · 2025Article
- Modified criteria for identifying elevated bone mass.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2025Article
- Article
- Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeLRP5 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.
methodsWe 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.
resultsA 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.
conclusionsWe 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.
Indexed as
Identifiers
What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.