1993 Williams: watching out for FCH when identifying FH.

Below are excerpts from Dr. Williams’ 1993 paper. Besides base rate, another important take-away is the importance of making a distinction between FCH and FH – otherwise one will misdiagnose the FCH as FH — and treatments tailored to the respective diseases will be missed. FH for example tends to require more medication than FCH, (see item 10 below), and FCH responds better to exercise (see item 8 below). And let’s not forget that “diagnosis,” by definition, is an attempt to distinguishbetween diseases. Again, barring genetic confirmation, the most probable distinguishing feature between FH and FCH is the presence or absence of elevated triglyceride. But Dr. Williams goes further and leaves us with other important characteristics which value the differences, not the similarities, between the diseases. Appropriately, the similarities are presented as warning signs, not identification criteria. Because the two diseases share many of the same characteristics, we are warned against confusing one with the other.With the complete set of premises below, we can not say, “The FCH are rejected from a diagnosis of FH despitethe fact that they share the same characteristics.” Stressing “shared characteristics” is the problem.  For example, both FH and FCH run in families and both involve high cholesterol – both are characteristics which score on FH diagnostic systems recommended by today’s Pharma-funded “research.” As we shall see, by replacing this emphasis on distinctions with a later emphasis on similarities, FCH will be diagnosed as FH.

Excerpts from Dr. Roger Williams’ 1993 paper.