SCREENING FOR WILSONS-DISEASE IN PATIENTS WITH LIVER-DISEASES BY SERUM CERULOPLASMIN

Background/Aims: A low serum ceruloplasmin level is considered a diagn ostic test for Wilson's disease. To examine whether it is useful to de tect presymptomatic patients with Wilson's disease, serum ceruloplasmi n was determined by radial immunodiffusion (normal: 20-60 mg/dl) in al l patients (n=2867) admitted for evaluation of a liver disease in 1993 and 1994. Methods: Patients with levels lower than 20 mg/dl were furt her evaluated by determination of serum copper concentration, urine co pper 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 Wilson's di sease (no Kayser-Fleischer rings or neurological symptoms). In the oth er 16 patients Wilson's disease was excluded. Based on elevated hepati c copper concentration, three were considered as heterozygous carriers of the WD gene. The remaining patients had various liver diseases (ac ute viral hepatitis in three, chronic hepatitis in two, drug-induced l iver disease in three, alcoholic induced liver disease in two) or mala bsorption (n=3). Conclusions: The positive predictive value of low ser um ceruloplasmin was only 5.9%. Although helpful for identifying presy mptomatic Wilson's disease, screening by determination of serum cerulo plasmin in unselected patients with clinical or laboratory evidence of liver disease is neither feasible nor cost effective.