Osteoporosis in Wilson’s disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance

Abstract 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 relati...

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Main 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
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
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Online Access:https://doi.org/10.1186/s13023-025-03910-1
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author 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
author_facet 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
author_sort Ling Zhu
collection DOAJ
description Abstract 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.
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spelling doaj-art-e09ddc645cdf434ca55efc8a0f4ad5042025-08-20T04:02:41ZengBMCOrphanet Journal of Rare Diseases1750-11722025-07-012011910.1186/s13023-025-03910-1Osteoporosis in Wilson’s disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillanceLing Zhu0Bin Song1Yun Xu2Yu-long Zhu3Lei Hua4Na Nian5Long Zhang6Quan Sun7Ben-chun Xue8Yin Xu9Yong-sheng Han10Institute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineAffiliated Hospital of Institute of Neurology, Anhui University of Chinese MedicineAffiliated Hospital of Institute of Neurology, Anhui University of Chinese MedicineAffiliated Hospital of Institute of Neurology, Anhui University of Chinese MedicineAffiliated Hospital of Institute of Neurology, Anhui University of Chinese MedicineAffiliated Hospital of Institute of Neurology, Anhui University of Chinese MedicineAffiliated Hospital of Institute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineInstitute of Neurology, Anhui University of Chinese MedicineAbstract 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.https://doi.org/10.1186/s13023-025-03910-1Wilson’s diseaseQuantitative CTBone mineral densityOsteoporosisOsteopenia
spellingShingle 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
Osteoporosis in Wilson’s disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance
Orphanet Journal of Rare Diseases
Wilson’s disease
Quantitative CT
Bone mineral density
Osteoporosis
Osteopenia
title Osteoporosis in Wilson’s disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance
title_full Osteoporosis in Wilson’s disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance
title_fullStr Osteoporosis in Wilson’s disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance
title_full_unstemmed Osteoporosis in Wilson’s disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance
title_short Osteoporosis in Wilson’s disease: A large cohort study highlighting age, sex and skeletal symptoms as key risk factors for clinical surveillance
title_sort osteoporosis in wilson s disease a large cohort study highlighting age sex and skeletal symptoms as key risk factors for clinical surveillance
topic Wilson’s disease
Quantitative CT
Bone mineral density
Osteoporosis
Osteopenia
url https://doi.org/10.1186/s13023-025-03910-1
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