Possible Causes Of Osteoporosis In Wilson Disease And Clinical Features Of Osseomuscular Conditions Associated With Wilson Disease

Objective:The prevalence of osteoporosis is higher among patients with Wilson Disease(WD) than the general public, of which the cause is still unclear. The purpose of this research is to analyze the possible causes for the high prevalence and provide theoretical basis for the treatment of osseomuscular conditions associated with Wilson DiseaseMethods:84 WD patients (44 men and 40 women) as well as 76 controls(27 men and 49 women) were enrolled in this study. The patients were diagnosed via mutation analysis of ATP7B. Dual-energy X-ray Analysis(DXA) was used to evaluate the bone mineral density and serum phosphate, calcium, magnesium, parathyroid hormone, calcitonin, osteocalcin,25-(OH)Vitamin D as wall as alkaline phosphatase were measured to evaluate the bone turnover activity. Based one the information on imaging, laboratory test and previous medical history, we would analyze the correlations between bone mineral density, bone turnover activity and patients’ age, gender, clinical manifestations and maximum dosage of penicillamine. A brief summary on clinical features and lab test results of patients presenting with osteoarthropathy would be given.Results:58 patients received a DXA scan. The prevalence of osteoporosis in WD patients is 25/68% whereas that in the controls is 16.5%. bone mineral density, T score and Z score of lumbar vertebrae as well as the bone mineral density, Z score of hip neck is significantly lower in WD patients.25-(OH)Vitamin D, serum phosphate, serum calcium and ALP is significantly higher in WD patients than the controls. But among patients who have received different maximum daily dosage of penicillamine,There is no significant difference in bone mineral density among each group. There are four patients were discovered with high parathyroid hormone without symptoms. Patients with bone deformity have abnormal gestures and prolonged hypertonia in the affected limb or spine.Conclusions:WD patients have a higher prevalence of osteoporosis, lower bone mineral density and higher bone turnover activity compared with controls. The use of penicillamine is an important precipitating factor but the effect is not dose-dependent. WD patients may present with asymptomatic hyperparathyroidism, which is contradictory to previous belief. Dystonia is an important risk factor for bone deformity.