Is there a good reason for blending different diseases under the name of one of them? Compound HeFH will soon be HoFH. What happens when we hold to the historical record, and tease the underlying components out from the new name? As with all of the FH studies that I have found, the claim of doubled, tripled, even sextupled prevalence is not only refuted by the studies’ own raw data, but the old numbers are confirmed by the very data used to claim the refutation.Prevalence for HoFH was originally said to be 1 in 1,000,000. In the Dutch study, there were 20 HoFH found. But 4 of those were said to “inflate the prevalence,” so they were explicitly removed, leaving 16 employed in off-text calculations: this key HoFH number “16” is nowhere to be found in the entire report. And this report is on the homozygous, yet a prevalence number for the true homozygous FH is not in the text. Digging into the raw data and text, true HoFH is 1/1,045,149, astonishingly close to the established number. Yet this result will not be mentioned, not here, not in the 2014 EAS. This Dutch study will blend in compound heterozygous FH and cite the total. Then the 2014 EAS will take that number and add in the HoFDB, and simply call all of these, “HoFH.”
Restoring citation and linguistic integrity is all we need to recover the underlying math.