# 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

PMC · DOI: 10.1186/s13023-025-03910-1 · Orphanet Journal of Rare Diseases · 2025-07-29

## TL;DR

This study finds that age, being male, and having skeletal symptoms increase the risk of bone loss in patients with Wilson’s disease.

## Contribution

The study identifies specific risk factors for osteoporosis and osteopenia in a large cohort of Wilson’s disease patients.

## Key findings

- Osteoporosis and osteopenia prevalence in Wilson’s disease patients were 3.1% and 23.2%, respectively.
- Age, male sex, and skeletal symptoms were independent risk factors for bone mass changes.
- BMD monitoring is recommended for high-risk Wilson’s disease patients to enable early intervention.

## Abstract

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.

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.

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.

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.

## Linked entities

- **Diseases:** Wilson’s disease (MONDO:0010200), osteoporosis (MONDO:0005298)

## Full-text entities

- **Genes:** IL18 (interleukin 18) [NCBI Gene 3606] {aka IGIF, IL-18, IL-1g, IL1F4}, IL6 (interleukin 6) [NCBI Gene 3569] {aka BSF-2, BSF2, CDF, HGF, HSF, IFN-beta-2}, TNFSF11 (TNF superfamily member 11) [NCBI Gene 8600] {aka CD254, ODF, OPGL, OPTB2, RANKL, TNLG6B}, IL1B (interleukin 1 beta) [NCBI Gene 3553] {aka IL-1, IL1-BETA, IL1F2, IL1beta}, ATP7B (ATPase copper transporting beta) [NCBI Gene 540] {aka PWD, WC1, WD, WND}, ATHS (atherosclerosis susceptibility (lipoprotein associated)) [NCBI Gene 470] {aka ALP}, SFTPA1 (surfactant protein A1) [NCBI Gene 653509] {aka COLEC4, ILD1, PSP-A, PSPA, SFTP1, SFTPA1B}, CP (ceruloplasmin) [NCBI Gene 1356] {aka AB073614, CP-2}, CST3 (cystatin C) [NCBI Gene 1471] {aka ADLDWA, ARMD11, HEL-S-2}, CSF1 (colony stimulating factor 1) [NCBI Gene 1435] {aka CSF-1, MCSF, PG-M-CSF}, GPT (glutamic--pyruvic transaminase) [NCBI Gene 2875] {aka AAT1, ALT, ALT1, GPT1, SGPT}, TNF (tumor necrosis factor) [NCBI Gene 7124] {aka DIF, IMD127, TNF-alpha, TNFA, TNFSF2, TNLG1F}, ALB (albumin) [NCBI Gene 213] {aka FDAHT, HSA, PRO0883, PRO0903, PRO1341}, SLC17A5 (solute carrier family 17 member 5) [NCBI Gene 26503] {aka AST, ISSD, NSD, SD, SIALIN, SIASD}
- **Diseases:** autosomal recessive and systemic disease (MESH:D034721), diabetes (MESH:D003920), joint pain (MESH:D018771), osteoarticular deformities (MESH:D014394), kidney disease (MESH:D007674), organ (MESH:D000092124), dystonia (MESH:D004421), hyperparathyroidism (MESH:D006961), Hepatolenticular degeneration (MESH:D006527), Osteoporosis (MESH:D010024), prostate cancer (MESH:D011471), bone fragility (MESH:C536063), cirrhosis (MESH:D005355), fracture (MESH:D050723), liver and brain injuries (MESH:D017093), osteoarthropathy (MESH:D010004), skeletal disorder (MESH:C564967), abnormal bone mass (MESH:D001847), inflammation (MESH:D007249), joint deformity (MESH:D016916), tremors (MESH:D014202), alcoholics (MESH:D000437), BMD (MESH:D001851), genetic disorder (MESH:D030342), copper overload (MESH:C566858), osteoporotic (MESH:D058866), back pain (MESH:D001416), scoliosis (MESH:D012600), pain (MESH:D010146), short stature (MESH:D006130), Liver Diseases (MESH:D008107), hepatic injury (MESH:D056486), depression (MESH:D003866), Cushing's syndrome (MESH:D003480), discoloration (MESH:D014075), hyperthyroidism (MESH:D006980)
- **Chemicals:** Ca (MESH:D002118), penicillamine (MESH:D010396), Cr (MESH:D003404), Copper (MESH:D003300), UC (-), ROS (MESH:D017382), TB (MESH:D001663), sodium dimercaptopropane sulfonate (MESH:D014494), urea nitrogen (MESH:C530477), P (MESH:D010758)
- **Species:** Gallus gallus (bantam, species) [taxon 9031], Homo sapiens (human, species) [taxon 9606], Mus musculus (house mouse, species) [taxon 10090], Rattus norvegicus (brown rat, species) [taxon 10116]

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Source: https://tomesphere.com/paper/PMC12309045