Ling Zhu, Bin Song, Yun Xu, Yu-Long Zhu, Lei Hua, Na Nian, Long Zhang, Quan Sun, Ben-Chun Xue, Yin Xu, Yong-Sheng Han
{"title":"威尔逊病中的骨质疏松症:一项大型队列研究,强调年龄、性别和骨骼症状是临床监测的关键危险因素。","authors":"Ling Zhu, Bin Song, Yun Xu, Yu-Long Zhu, Lei Hua, Na Nian, Long Zhang, Quan Sun, Ben-Chun Xue, Yin Xu, Yong-Sheng Han","doi":"10.1186/s13023-025-03910-1","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Wilson's disease (WD) is a rare disorder affecting copper metabolism that is characterized by multiple organ system damage, including the liver, brain, and eyes. Patients with WD are at risk for decreased bone mineral density (BMD). Only a few studies have investigated the relationship between WD and BMD, and there are discrepancies in the data. Therefore, we investigated the BMD status of patients with WD and analyzed the risk factors affecting the bone mass change.</p><p><strong>Methods: </strong>This retrospective cohort study selected 426 patients with WD who were admitted to a neurological hospital in Hefei, China, from January 2018 to August 2024 as study subjects. The enrolled patients were divided into the osteoporosis group (13 patients), osteopenia group (99 patients), and normal bone mass group (314 patients). The rates of prevalence of osteoporosis and osteopenia were calculated, and the risk factors of osteoporosis and osteopenia were analyzed by multivariate ordered logistic regression.</p><p><strong>Results: </strong>The prevalence of osteoporosis and osteopenia in patients with WD was 3.1% and 23.2%, respectively. Multivariate ordered logistic regression analysis demonstrated that age, male sex, and the presence of skeletal symptoms during the course of the disease were independent risk factors for osteoporosis and osteopenia in patients with WD, with odds ratio (OR) (95% confidence interval [CI]) values of 1.103 (1.074-1.134), 2.292 (1.216-4.320), and 2.675 (1.395-5.131), respectively.</p><p><strong>Conclusions: </strong>Patients with WD with older age, male sex, and skeletal symptoms during the course of the disease are prone to osteoporosis and osteopenia changes. BMD monitoring and early intervention of such patients should be strengthened clinically.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"388"},"PeriodicalIF":3.5000,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12309045/pdf/","citationCount":"0","resultStr":"{\"title\":\"Osteoporosis in Wilson's disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance.\",\"authors\":\"Ling Zhu, Bin Song, Yun Xu, Yu-Long Zhu, Lei Hua, Na Nian, Long Zhang, Quan Sun, Ben-Chun Xue, Yin Xu, Yong-Sheng Han\",\"doi\":\"10.1186/s13023-025-03910-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Wilson's disease (WD) is a rare disorder affecting copper metabolism that is characterized by multiple organ system damage, including the liver, brain, and eyes. Patients with WD are at risk for decreased bone mineral density (BMD). Only a few studies have investigated the relationship between WD and BMD, and there are discrepancies in the data. Therefore, we investigated the BMD status of patients with WD and analyzed the risk factors affecting the bone mass change.</p><p><strong>Methods: </strong>This retrospective cohort study selected 426 patients with WD who were admitted to a neurological hospital in Hefei, China, from January 2018 to August 2024 as study subjects. The enrolled patients were divided into the osteoporosis group (13 patients), osteopenia group (99 patients), and normal bone mass group (314 patients). The rates of prevalence of osteoporosis and osteopenia were calculated, and the risk factors of osteoporosis and osteopenia were analyzed by multivariate ordered logistic regression.</p><p><strong>Results: </strong>The prevalence of osteoporosis and osteopenia in patients with WD was 3.1% and 23.2%, respectively. Multivariate ordered logistic regression analysis demonstrated that age, male sex, and the presence of skeletal symptoms during the course of the disease were independent risk factors for osteoporosis and osteopenia in patients with WD, with odds ratio (OR) (95% confidence interval [CI]) values of 1.103 (1.074-1.134), 2.292 (1.216-4.320), and 2.675 (1.395-5.131), respectively.</p><p><strong>Conclusions: </strong>Patients with WD with older age, male sex, and skeletal symptoms during the course of the disease are prone to osteoporosis and osteopenia changes. BMD monitoring and early intervention of such patients should be strengthened clinically.</p>\",\"PeriodicalId\":19651,\"journal\":{\"name\":\"Orphanet Journal of Rare Diseases\",\"volume\":\"20 1\",\"pages\":\"388\"},\"PeriodicalIF\":3.5000,\"publicationDate\":\"2025-07-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12309045/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Orphanet Journal of Rare Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1186/s13023-025-03910-1\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Orphanet Journal of Rare Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13023-025-03910-1","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Osteoporosis in Wilson's disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance.
Background: Wilson's disease (WD) is a rare disorder affecting copper metabolism that is characterized by multiple organ system damage, including the liver, brain, and eyes. Patients with WD are at risk for decreased bone mineral density (BMD). Only a few studies have investigated the relationship between WD and BMD, and there are discrepancies in the data. Therefore, we investigated the BMD status of patients with WD and analyzed the risk factors affecting the bone mass change.
Methods: This retrospective cohort study selected 426 patients with WD who were admitted to a neurological hospital in Hefei, China, from January 2018 to August 2024 as study subjects. The enrolled patients were divided into the osteoporosis group (13 patients), osteopenia group (99 patients), and normal bone mass group (314 patients). The rates of prevalence of osteoporosis and osteopenia were calculated, and the risk factors of osteoporosis and osteopenia were analyzed by multivariate ordered logistic regression.
Results: The prevalence of osteoporosis and osteopenia in patients with WD was 3.1% and 23.2%, respectively. Multivariate ordered logistic regression analysis demonstrated that age, male sex, and the presence of skeletal symptoms during the course of the disease were independent risk factors for osteoporosis and osteopenia in patients with WD, with odds ratio (OR) (95% confidence interval [CI]) values of 1.103 (1.074-1.134), 2.292 (1.216-4.320), and 2.675 (1.395-5.131), respectively.
Conclusions: Patients with WD with older age, male sex, and skeletal symptoms during the course of the disease are prone to osteoporosis and osteopenia changes. BMD monitoring and early intervention of such patients should be strengthened clinically.
期刊介绍:
Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.