The illustration below shows the consequences of citation kiting — as if they were “Before” and “After” photos. The 2003 “Rader report” and the 2016 “Regeneron report” expose the linguistic and mathematical “conclusion drift” that took place in the interim. So here is the gap between the former unequivocal usage of “FH”and the new equivocated version. In the image below, on the left: in 2003, LDLR, APOB, and PCSK9 were considered Autosomal Dominant [Hypercholesterolemia] (ADH). In both papers, FH-as-LDLR is the same 1:500. Now, however, the Regeneron report tells the world that prevalence used to be “1:500,” but now it is “~1:250.” But 1 in ~250 mostly represents the old category heading, ADH – not the prevalence of the LDR gene, which used to go by the acronym, “FH.” Now, all three are the “FH gene.”
The different “FH” numbers between the two studies is due to linguistics, not epidemiology. Nobel Prize winners, Goldstein and Brown, have been directors of Regeneron for years now. Nonetheless, the reverence due the scientific record has been flouted, without anyone in the medical community stepping up. Such vulnerability, in medicine especially, ought to concern everyone.