Early Detection of Risk and Familial Hypercholesterolemia

Peter Salgo, MD: Let’s talk about modifiable risks first. For example, hyperlipidemia, hypertension, obesity. We can attack those directly?

Seth J. Baum, MD: Those are immensely important, obviously, and they can be attacked. And physicians and patients need to be aware of the modifiable risk factors. You bring up hyperlipidemia, and you bring up hypertension. They’re 2 conditions that we can deal with very, very effectively. We now have a new outcomes trial, FOURIER, that has shown a new agent that has the most, I would say, revolutionary change in lipid-lowering therapy in 30 years. It decreases heart attack and stroke very effectively by getting LDL levels down to 30 in the high-risk patients. But the point is, you can deal with these things.

Peter Salgo, MD: The takeaway on that is cholesterol management is important.

Seth J. Baum, MD: Critical.

Peter Salgo, MD: All right. What about the nonmodifiable risk factors? There are folks who have genetic engines out there running their LDL levels up to 300 mg/dL and 350 mg/dL.

Seth J. Baum, MD: No, no, no, that’s different, I’m sorry. That still falls under a modifiable risk factor.

Peter Salgo, MD: Is it?

Seth J. Baum, MD: That’s FH—familial hypercholesterolemia.

Peter Salgo, MD: But the risk is not modifiable.

Seth J. Baum, MD: The risk is modifiable.

Howard Weintraub, MD: You treat the risk, you don’t modify the risk. You’re able to lower the results on the FH.

Seth J. Baum, MD: Lower the risk, right.

Peter Salgo, MD: You can’t make this guy not at risk because genes make him at risk. But you can treat it.

Seth J. Baum, MD: No, you can’t. You do lower his risk, or normalize his risk, by treating his LDL. In fact, in the Netherlands, their insurance companies do not rate patients if they’ve been treated at young ages—even with HeFH (heterozygous familiar hypercholesterolemia).

Peter Salgo, MD: We used to say, “Look, FH (familiar hypercholesterolemia), it’s not a modifiable risk. You’re born with this. Your family had it. Your dad died at age 38.” But we’ve changed, the landscape has changed, and the effectiveness of therapy has changed, so you’re going to lump everybody together. Genetic or not, we can fix this. Is that what you’re saying?

Seth J. Baum, MD: No, not completely. I’m saying about 50% of genetic causes of cardiovascular disease are undetected at this point—maybe even 80%, some people say. So, let’s say, somewhere in that range. You can’t modify those genetics. Age, you can’t modify. Sex, you can’t modify. So, these are the nonmodifiable risk factors. Unfortunately, fewer than 10% of FH patients have been identified in the US. But if you identify FH early on and treat it aggressively, you can significantly decrease the risk of heart attack, stroke, or death.

Peter Salgo, MD: So, FH is underrecognized? How big a problem is it? If you were to find everybody with FH in America, how big a pool is that?

Seth J. Baum, MD: One-and-a-half million people.

Peter Salgo, MD: A million and a half?

Howard Weintraub, MD: Yes. The heterozygotes, that can be phenotypically just as bad as somebody with homozygous FH, can be as little as 1 in 250 people, maybe 1 in 400, depending on where you are and what communities have migrated in. So, what Seth says is absolutely right. What I want to hold you guys to do is to support early intervention, because what we’re doing now is we’re late for the party. When we get a hold of a 55-year-old who already has atherosclerosis in multiple vessels and then you want to know why it is that they die, everybody says, “See, we did this and they died anyway.” Well, the reason for this is because we should have been there 20 years earlier. And I think that is something that the insurance industry could play a very big role in doing, because the governments have not done a great job.

Peter Salgo, MD: Let me ask one final question before we move on to another manifestation of all this. You take a look at the Vietnam War data and you find that there’s early atherosclerotic disease in a fair number of these unfortunate young men who had autopsies at a very young age of 18, 19, or 20. You say that we’re late to the party at the age of 30. Maybe we’re late to the party at the age of 18.

Jennifer Strohecker, PharmD, BCPS: Right.

Howard Weintraub, MD: I was trying not to be too ridiculous, but I think what you’ve got to do is you should be screening not at age 40 and 50, but you should be screening when they leave high school or even earlier. If there’s a family history, probably then they should start screening during adolescence.

Gary L. Johnson, MD, MBA: You seem to imply that insurance companies were standing in the way of preventive care. I’m not understanding how that is so.

Howard Weintraub, MD: That’s not at all what I said.

Gary L. Johnson, MD, MBA: That’s what I heard.

Howard Weintraub, MD: All due respect, this is sometimes that happens in the dialogue between physicians and the managed care organizations. We say something, you hear something else. What I’m telling you is, what you should be doing in order to minimize your output would be to support, foster, encourage, and create programs for detection of risk early so that these people are not going to necessarily have 2 or 3 myocardial infarctions or multiple stents in their coronaries. You’re now going for heroic measures that are still not going to be as impactful as they could be.

Peter Salgo, MD: I hear the insurance company.

Gary L. Johnson, MD, MBA: Yes, I guess I’m not understanding. It sounds like you’re implying that we don’t do that, but I think we do.

Howard Weintraub, MD: There are people that will give a minor discount for a health club membership. That’s what goes on.

Seth J. Baum, MD: I don’t see the payers doing that much for prevention. I understand the annual physical and things like that, and the colonoscopy. But I don’t see this societal change that’s encouraging health. And there’s one other thing: if you have FH and you have a child, that child should be checked at age 2, actually. That’s the current recommendation. So, at 2 years old, that person should be getting a lipid profile. And insurance (payers) often don’t cover that.

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