Zhu Ling, Song Bin, Xu Yun, Zhu Yu-Long, Hua Lei, Nian Na, Zhang Long, Sun Quan, Xue Ben-Chun, Xu Yin, Han Yong-Sheng
Institute of Neurology, Anhui University of Chinese Medicine, Hefei, 230038, China.
Affiliated Hospital of Institute of Neurology, Anhui University of Chinese Medicine, Hefei, 230038, China.
Orphanet J Rare Dis. 2025 Jul 29;20(1):388. doi: 10.1186/s13023-025-03910-1.
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.
威尔逊病（WD）是一种影响铜代谢的罕见疾病，其特征是多器官系统受损，包括肝脏、大脑和眼睛。WD患者存在骨矿物质密度（BMD）降低的风险。仅有少数研究调查了WD与BMD之间的关系，且数据存在差异。因此，我们调查了WD患者的BMD状况，并分析了影响骨量变化的危险因素。
这项回顾性队列研究选取了2018年1月至2024年8月在中国合肥一家神经科医院收治的426例WD患者作为研究对象。将纳入的患者分为骨质疏松组（13例）、骨量减少组（99例）和骨量正常组（314例）。计算骨质疏松和骨量减少的患病率，并通过多因素有序逻辑回归分析骨质疏松和骨量减少的危险因素。
WD患者骨质疏松和骨量减少的患病率分别为3.1%和23.2%。多因素有序逻辑回归分析表明，年龄、男性以及病程中存在骨骼症状是WD患者骨质疏松和骨量减少的独立危险因素，比值比（OR）（95%置信区间[CI]）值分别为1.103（1.074 - 1.134）、2.292（1.216 - 4.320）和2.675（1.395 - 5.131）。
年龄较大、男性且病程中存在骨骼症状的WD患者易发生骨质疏松和骨量减少变化。临床上应加强对此类患者的BMD监测和早期干预。
