Paradigm Shifts in Lipid Lowering - Episode 4

High Cholesterol Versus Familial Hypercholesterolemia

March 29, 2021
Linda Hemphill, MD

Massachusetts General Hospital

,
Dean Karalis, MD

Thomas Jefferson University Hospital

,
Norman Lepor, MD, FACC, FAHA, FSCAI

Cedars-Sinai Medical Center

,
Manesh Patel, MD

Duke University School of Medicine

,
Keith C. Ferdinand, MD

Tulane University School of Medicine

Linda Hemphill, MD, shares her views on how familial hypercholesterolemia impacts the assessment of high-risk patients.

Keith C. Ferdinand, MD: So even when we're looking at patients who have a normal coronary calcium score who have very elevated lipids, they may have familiar hypercholesterolemia, how common is FH [familial hypercholesterolemia] and how does that impact your assessment of some of these high-risk patients?

Linda Hemphill, MD: We now know from studies, in the Netherlands, that really the prevalence of FH is 1 in 250, not the 1 in 500 that we all learned in medical school. It is twice as common as we used to think, and very common in our clinical coronary patients. And a group of patients that we need to be very aggressive in primary prevention, and in fact FH is the only condition which the FDA approved the PCSK9 inhibitors and bempedoic acid.

Keith C. Ferdinand, MD: We're going to talk about both of those drugs. Do you do genetic testing, or do you just do the surrogate of an LDH greater than 190? Or do you have to do genetic testing to make the diagnosis of FH?

Linda Hemphill, MD: The diagnosis of FH can be a sticky wicket. If you are trying to get the PCSK9 inhibitors or bempedoic acid approved in primary prevention, some insurance companies will insist on meeting the Dutch Lipid Clinic criteria. Well, this is very high bar. In essence, to be definite FH by the Dutch Lipid Clinic, you must have xanthomas, and we do not see xanthomas as much anymore because people are statin treated. Maybe they're not to a good level with statin, but low enough that they have not developed the xanthomas.

Keith C. Ferdinand, MD: We could be missing them if we're just looking for those classic signs of FH. Family history, we heard earlier, was a part of the evaluation of these high-risk patients. Do you think that is one of the clues that will pick out those patients along with the markedly elevated LDL?

Linda Hemphill, MD: Very important, very helpful, but there is also something I call the disappearing family history syndrome, and this is where the parents have been taking statin since a fairly young age. And you have to go back to the grandparental level for your family history.

Keith C. Ferdinand, MD: Very good.

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Transcript Edited for Clarity


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