Clinical significance of serum ceruloplasmin in Wilson disease and Wilson disease carriers

Objective There is not yet a consensus of opinions regarding the value of ceruloplasmin detection in the diagnosis of Wilson disease(WD),WD carriers and viral hepatitis.This study was to investigate the clinical significance of detecting the level of ceruloplasmin for WD,WD carriers and viral hepatitis,and to explore the clinical manifestation of WD and characteristics of copper metabolism in WD carriers.Methods We enrolled in this study 20 WD patients,30 WD carriers(parents of the WD patients),2 WD carriers with viral hepatitis,20 patients with viral hepatitis only,and 20 healthy controls.All the subjects underwent examination of neural symptoms,determination of the levels of ceruloplasmin,cerebrospinal fluid copper,serum copper,and 24h urine copper before and after copper-discharging treatment,as well as evaluation of the brain images,abdominal ultrasonography,liver function and coagulation function.Results Compared with the healthy controls,the WD patients showed a lower level of ceruloplasmin,and a significantly higher level of urine copper after the copper-discharging test.The WD carriers with abnormal ceruloplasmin accounted for 73%.The ceruloplasmin level of the WD carriers was a median between that of the healthy controls and that of the WD patients.The WD carriers with viral hepatitis exhibited a ceruloplasmin level lower than 0.1 g/L and changing with the hepatic function,their urine copper level slightly increased as compared with that of the healthy controls and obviously higher than theirs after copper discharging.A mild reduction was observed in the level of ceruloplasmin in those with viral hepatitis only.Conclusion Detection of ceruloplasmin helps to distinguish WD,WD carriers and viral hepatitis.The level of ceruloplasmin is slightly decreased in viral hepatitis,significantly reduced in WD carriers with viral hepatitis,and median between that of WD and that of healthy population in WD carriers.It can be used as a good marker for the diagnosis of the WD carrier,in whom there is a slight abnormality of copper metabolism,with no clinical symptoms and no need of copper-discharging treatment.