The increase in FH prevalence is a false claim.

Here is Michael F. Murray, Geisinger director of clinical genomics. He is listed on the Regeneron paper as the corresponding author.[1]

“’The study shows us that FH is about twice as common as it was once thought to be …” [2]

Here is the Regeneron-funded study’s lead author,” Noura Abul-Husn, of the “Regeneron Genetics Center,” using almost the exact same string of words: “twice as common as it was thought to be.”

Regeneron-funded FH prevalence report

These statements are false.  The results are less than previously thought. In reality, it is only the pharma-definition of FH which is not what it was commonly thought to be.  The only result greater than previously thought is the length to which pharma has gone to stretch community perceptions.

Now, upstream academics “educate” downstream medical practitioners with statements of new and improved FH prevalence. And it is effective because ….

“Fewer than 30% of cardiologists surveyed recognized FH when shown a National Lipid Association (NLA) case example.” ~ Dr. JoAnne Foody, with editorial assistance. The 2011 survey cited was funded by Sanofi, Regeneron partner.[3]

If an argument can be made that these separate diseases are serious enough to be included as FH, meaning that we overcome the argument that most APOB are much weaker than LDLR, then we are still left with the deception that “FH is twice as common as it was thought to be.”  The prevalence of each of the constituents has not changed and in fact prevalence of LDLR, pure FH, is less than previously thought in the Regeneron study.

[1] I emailed him several detailed questions about the breakdown of LDLR and APOB after the cohort with selection bias was removed from the results. I received no reply. Click here for a copy of the email (and a hypothetical wager I would make on the answers to my questions).

[2] PR by Regeneron Genetics Center, and others, announcing the above-mentioned article in Science. “Geisinger and Regeneron study finds life-threatening genetic disorder is substantially underdiagnosed,” Dec. 22, 2016

[3] “Familial Hypercholesterolemia: An Under-recognized but Significant Concern in Cardiology Practice,” JoAnne M. Foody, MD, FACC, FAHA