Letter: Doubt Wilson disease.

Abstract

To the Editor..— Although the patient described by Schraeder et al 1 seems to have suffered from polymyositis, perhaps a reaction to penicillamine, it is very probable that she does not have disease. On the basis of the evidence presented, she is more likely to be a heterozygous carrier of one Wilson disease Deficiency, or absence, of ceruloplasmin in the serum is seen in about 95% of individuals with disease—abnormal homozygotes — but is also noted in at least 10% of heterozygous carriers of this gene. About one in 200 individuals in the general population is such a carrier 2 so that one would expect to find about one in 2,000 individuals whose deficiency of ceruloplasmin is a consequence of this heterozygosity. Since the prevalence of disease itself is of the order of one in 200,000, 2 only one of every 100 patients with hyperceruloplasminemia will be a