Raking Leaves into the pile that you need: After de-emphasizing genetic testing and exclusionary criteria, FCH Pass as FH

1997 Ascaso vs 2013 Nordestgaard: After removal of TG top-scoring FCH become FH

De-emphasizing genetic testing and eliminating TG levels keeps the FCH blended in with the FH. Without appropriate exclusionary criteria, both the on-target and the off-target populations maintain a pervasive variability of scores, and the patient swap is now a fait accompli. The chart on the left is the industry recommended scoring system for FH. Genetic testing is demoted and optional,and there is no mention that a negative genetic test should serve as a red flag for FCH. Also, finding one family member with cardiac disease is a characteristic shared with FCH and is not as exclusionary as a serious examination of an extensive family pedigree. Base rate fallacy is present here. On the right is a presentation of Ascaso et al’s FCH cohort. It can be seen that scores consistent with FH are present. Unexamined, the FCH with an FH score are “FH.” For later analysis, note that these FCH (right) weigh in at the second level of the FH scoring system (left), aggregating at the Probable category, 6 to 8 points.

1997 Ascaso vs 2013 Nordestgaard: After removal of TG top-scoring FCH become FH