2006 Van Aalst-Cohen tests the scoring system

Dr. Emily Van Aalst-Cohen set the scoring system results against the DNA standard. How accurate are these scorings systems? Her team “used a set of established clinical diagnostic criteria to define FH.” They then examined this group genetically. In how many would they find mutations? Out of 2,400 that surpassed their threshold for “FH,” a mutation was found in 1,255, and no mutation was found in 1,145.  This is pretty close to the flip of a coin. As already known and warned against by Goldstein, Williams, and others, the LDLR mutations express themselves in a variety of profiles so extreme that a scoring system cannot separate mutation carriers from those who suffer from other keeping an eye out for FCH are imperative. Of particular concern, and underscored by Goldstein, Williams, and Van Aalst-Cohen, are the FCH. In the screenshots below, the mutation carriers are the “LDL-R plus” … and those in whom a mutation was not found are the “LDL-R minus.”  The difference between their respective sets of numbers is consistent with the presence of FCH and non-FH in the LDL-R minus group. Note the differences between LDLC and triglyceride levels, with the reminder that LDLC values dominate within an FH definition, while triglyceride levels dominate within the FCH definition. (Note the bump higher in diabetes for the FCH; this will come up again later.)