To the Editor..—
Although the patient described by Schraeder et al1 seems to have suffered from polymyositis, perhaps a reaction to penicillamine, it is very probable that she does not have Wilson disease. On the basis of the evidence presented, she is more likely to be a heterozygous carrier of one "Wilson disease gene."Deficiency, or absence, of ceruloplasmin in the serum is seen in about 95% of individuals with Wilson 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 carrier2 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 Wilson disease itself is of the order of one in 200,000,2 only one of every 100 patients with hyperceruloplasminemia will be a
Scheinberg IH. DOUBT WILSON DISEASE: To the Editor. Arch Neurol. 1973;29(6):449. doi:10.1001/archneur.1973.00490300111020
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.