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. 2025 Jul 29;20(1):388.
doi: 10.1186/s13023-025-03910-1.

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

Ling Zhu #  1   2 , Bin Song #  1   2 , Yun Xu  1 , Yu-Long Zhu  2 , Lei Hua  2 , Na Nian  2 , Long Zhang  2 , Quan Sun  2 , Ben-Chun Xue  2 , Yin Xu  1   2 , Yong-Sheng Han  3   4   5
Affiliations

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

Ling Zhu et al. Orphanet J Rare Dis. .

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.

Keywords: Bone mineral density; Osteopenia; Osteoporosis; Quantitative CT; Wilson’s disease.

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Conflict of interest statement

Declarations. Ethics statement: The study protocol was established, according to the ethical guidelines of the Helsinki Declaration and was approved by the ethics committee of the hospital (2024-SYSFYSY-20). Consent for publication: All authors consent to publish. Competing interests: None.

Figures

Fig. 1
Fig. 1
Case screening flow chart
Fig. 2
Fig. 2
Distribution of BMD in different populations among patients with WD
Fig. 3
Fig. 3
Forest plot of independent risk factors for the development of osteoporosis and osteopenia in patients with WD
See this image and copyright information in PMC

References

    1. Zhang S, Yang W, Li X, Pei P, Dong T, Yang Y, et al. Clinical and genetic characterization of a large cohort of patients with wilson’s disease in China. Transl Neurodegener. 2022;11:13. 10.1186/s40035-022-00287-0. - PMC - PubMed
    1. Fang S, Hedera P, Borchert J, Schultze M, Weiss KH. Epidemiology of Wilson disease in Germany– real-world insights from a claims data study. Orphanet J Rare Dis. 2024;19:335. 10.1186/s13023-024-03351-2. - PMC - PubMed
    1. Chevalier K, Rahli D, de Veyrac L, Guillaume J, Obadia MA, Poujois A. Quality of life and depression in wilson’s disease: a large prospective cross-sectional study. Orphanet J Rare Dis. 2023;18:168. 10.1186/s13023-023-02777-4. - PMC - PubMed
    1. Wang G, Hong M, Yang R. A study on bone densitometry testing and osteoarticular symptom in hepatolenticular degeneration. Chin J Prim Med Pharm. 2005;12:259–60. 10.3760/cma.j.issn.1008-6706.2005.03.00.
    1. Quemeneur AS, Trocello JM, Ea HK, Ostertag A, Leyendecker A, Duclos-Vallée JC, et al. Bone status and fractures in 85 adults with wilson’s disease. Osteoporos Int. 2014;25:2573–80. 10.1007/s00198-014-2806-2. - PubMed

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