Here are two important reminders when not relying on genetic matching: the importance of examining extensive family pedigrees and the role that triglyceride plays in making a distinction between FH and FCH. FH is noted both for its raised cholesterol but also for its relatively normal triglyceride. FH is typically not defined by the elevation of bothlipids: cholesterol (LDLC) and triglyceride (TG). (We know that it is not impossible for an LDLR mutation carrier (FH) to also have a high level of triglyceride, but that is the exception and not the rule. If one finds the higher level of triglyceride, without the aid of genetic confirmation, the more probable diagnosis is FCH, not FH. More on this later.)
- Below left is a diagnostic flow chart demonstrating the steps in the delineation of FH and FCH, two of the five diseases presented in Goldstein’s 1973 report.
- Below right are two excerpts from the report. One (bottom) shows the criteria used in the classification of the diseases. The other (top) shows uninherited diseases, such as diabetes, with characteristics shared with FH and FCH.