Screening for Wilsonʹs disease in patients with liver diseases by serum ceruloplasmin

Background/Aims: A low serum ceruloplasmin level is considered a diagnostic test for Wilsonʹs disease. To examine whether it is useful to detect presymptomatic patients with Wilsonʹs disease, serum ceruloplasmin was determined by radial immunodiffusion (normal: 20–60 mg/dl) in all patients (n=2867) admitted for evaluation of a liver disease in 1993 and 1994. Methods: Patients with levels lower than 20 mg/dl were further evaluated by determination of serum copper concentration, urine copper excretion and ophthalmological examination. If possible, a liver biopsy was performed and the hepatic copper content was determined by flame atomic absorption spectroscopy. Results: Seventeen patients had serum ceruloplasmin levels <20 mg/dl. One had asymptomatic Wilsonʹs disease (no Kayser-Fleischer rings or neurological symptoms). In the other 16 patients Wilsonʹs disease was excluded. Based on elevated hepatic copper concentration, three were considered as heterozygous carriers of the WD gene. The remaining patients had various liver diseases (acute viral hepatitis in three, chronic hepatitis in two, drug-induced liver disease in three, alcoholic induced liver disease in two) or malabsorption (n=3). Conclusions: The positive predictive value of low serum ceruloplasmin was only 5.9%. Although helpful for identifying presymptomatic Wilsonʹs disease, screening by determining of serum ceruloplasmin in unselected patients with clinical or laboratory evidence of liver disease in neither feasible nor cost effective.