How can one increase a prevalence rate without having to find more people? Linguistics. If zebras were suddenly called “horses,” would we have more of either or both in the world?Industry-funded reports on FH are more aptly called linguistic strategies than prevalence studies. Their claim of a higher than expected prevalence is necessary to sound the alarm of “underdiagnosis.”
I’ve taken screenshots from two FH reports and put them together in the presentation below. They illustrate the definitions before and after the change. On the left is a report from 2003, and on the right, Regeneron’s report from 2016.In 2003, FH referred to the presence of an LDLR mutation; FDB was different and referred to an APOB mutation, and FH3 was yet another disease name, and referred to PCSK9. These diseases were all under the umbrella acronym, “ADH” – which spells out to “Autosomal Dominant Hypercholesterolemia.” Now Big Pharma has funded reports which drop the umbrella, “ADH,” and take the subset of ADH named “FH” and make it the umbrella term for the other two diseases. FH is no longer alongsideFDB and FH3, but the terms to distinguish FDB and FH3 are dropped, and their respective mutations, APOB and PCSK9, are no longer referred to as subsets to “ADH,” but to “FH.” It is as if the peas under the shells labeled “FDB” and “FH3” have been palmed and are next found under the FH “shell,” which now houses all … the LDLR, the APOB and the PCSK9. FH becomes the main set … the entire set, and conflated with the other two diseases.
Being able to claim “higher prevalence than previously thought” is the ability to claim underdiagnosis. Underdiagnosis leads to the conclusion of undertreatment and undertreatment means that doctors aren’t working hard enough. Higher Prevalence is the cornerstone and once it is set, the rest of the argument falls into place. But it is a commercial argument not a move toward the medical discipline which requires that we move toward clarity and detail, and not away from them. A deliberate move away from clarity and toward the obscure is not science, but obscurantism.
The math is basic, after the restoration of linguistic integrity. Imagine that I count 200 people. 100 of them have LDLR mutations and are in a room with “FH” painted on the door, and the other 100 have APOB mutations and are in another room with “FDB” painted on its door. If I herd the 100 people from the “FDB” room to the “FH” room, and then whitewash over “FDB,” leaving that room empty, then do I have 100 more people than previously thought? No. I still have a total of 200. Do I have more “FH” than previously thought. Perhaps. Sort of. But it would be the expansion of the previous linguistic definition of “FH” into something new and converting others to a new cultural usage. It would not however be a “discovery” in the explorer’s or scientist’s sense of the term, certainly not the discovery of more diseased patients.