The established prevalence of FH-as-LDLR mutation is 1:500. Of FDB-as-APOB mutation, it is 1:1,000. If I combine FH and FDB, I mathematically derive a prevalence of 1:333. If I call these combined patients “FH,” have I really found more true FH patients or have I put two distinct definitions under a single umbrella-term, “FH,” which then requires that I follow through with the required math? What if I add in FH3, which refers to PCSK9? I can also add in a controversial APOB mutation into FDB. P.Arg3558Cys, AKA, R3531C, Arg3531Cys, is found to interfere with the cholesterol process, in the lab. In the living, however, it has been said to be too weak to be included as an FDB mutation.
The recent Pharma-funded effort is more aptly called a linguistic strategy than a prevalence study. “Higher than expected” prevalence is necessary to increase the alarm of “underdiagnosis.” It is the key point within the publication strategy. And it is a false claim.