Familial Hypercholesterolemia, and Elevated Triglycerides: Lipid Management in Clinical Practice
September 14, 2022
Guest: Susan Halli Demeter, DNP, CNP, NP
Lipid Management in Clinical Practice
Familial Hypercholesterolemia (FH), the genetic condition that causes high LDL cholesterol levels, may lead to early heart attacks or heart disease if undiagnosed or untreated. Guest Susan Halli Demeter, DNP, CNP, NP, of the Mayo Clinic, describes the diagnosis, heterozygous and homozygous versions of FH, treatments, and the importance of genetic screening for family members.
Susan Halli Demeter podcast transcript
[00:00:00] Welcome to Heart to Heart Nurses, brought to you by the Preventive Cardiovascular Nurses Association. PCNA's mission is to promote nurses as leaders in cardiovascular disease prevention and management.
Geralyn Warfield (host): So today we're grateful to be able to talk with Susan Halli Demeter about lipid management, and I'm going to let her introduce herself before we get into the content.
Susan Halli Demeter (guest): Hello, I'm Susan Halli Demeter. I'm a nurse practitioner that works at Mayo Clinic in Arizona, and I'm a clinical lipid specialist. And my focus in my practice is prevention and I also manage hypercholesterolemia, problems with tolerating cholesterol-lowering meds, and focus, basically, on reducing future cardiovascular risk events in patients.
Geralyn Warfield (host): Well, you have a lot of great information to share with us today. And I know our audience is very excited to learn more. For those of you that [00:01:00] aren't as familiar with the Preventive Cardiovascular Nurses Association, we actually started as the Lipid Nurse Task Force, more than 25 years ago. So, we have a long history of managing patients with lipids, preventing cardiovascular disease in lipid management, and have a lot of great resources that we'll probably touch on later.
But we're so excited to have Susan here today to talk to us a little bit more. Today, we're going to talk about the importance of screening, and management of FH, in efforts to prevent future cardiovascular events. So, Susan, what can you tell us about that?
Susan Halli Demeter (guest): Yes. So, you want to start, you know, suspecting familial hypercholesterolemia, you know, while you're taking a dedicated H & P [history and physical] with, with your patients. So, you know, if, if you start to discover that they have a strong family history for premature cardiovascular disease, or hypercholesterolemia, or you learn, you know, that there's, there's a parent or family member that, you know, passed away very [00:02:00] young and that there was some suspicion of high cholesterol, and then you check their labs, and, you know, if it's a, it's a pediatric patient, their LDL is at 160 or greater, you can have a suspicion for FH. And if it's an adult patient that you're seeing in the clinic, you know, it could be an LDL of 190 or greater.
That's when you want to start asking more questions, maybe using a diagnostic criteria tool to assess and screen for FH, such as using the Dutch Lipid Clinic Network diagnostic criteria score, or the Simon Broome criteria.
And it's a point system. And then, you know, based on the amount of points they carry, you know, it may be something if you're diagnosing that they may, very likely, have FH, you know, refer to a genetic counselor for further assessment and screening. Yeah. And so, you know, also you can also find clinical features on these patients as well, such as tendon xanthomas or xanthelasmas, [00:03:00] corneal arcus—and if you start seeing those traits in the patients, along with the elevated LDL levels and strong family history, that may increase your suspicion and then, you know, want to further evaluate and investigate and diagnose, through genetic counseling.
Geralyn Warfield (host): So, in this process of diagnosis, initially, are you as worried whether or not it's homozygous or heterozygous FH, or just that diagnosis of FH is the first step?
Susan Halli Demeter (guest): Yeah. I mean, typically if you're seeing someone with homozygous FH, they're going to have markedly elevated LDL, like over 400 or greater, or they could be a compound heterozygous that, you know, especially the family history is what's so key, because they could have, you know, father with high cholesterol, mother has high cholesterol.
They could have different genetic mutations and then carry those traits to have a compounded, markedly elevated [00:04:00] cholesterol with LDL sometimes 400 or greater. Heterozygotes tend not to have quite as elevated LDL levels. They're usually, you know, at 190 or greater. Usually getting, gathering the family history—it’s usually one side of the family where this is coming from and, you know, it's a very helpful, the family history is a very helpful evaluation of all of this.
Geralyn Warfield (host): Do you find that most of the patients with whom you work have access to that family history, or are there often big gaps in the information that both you and the patient are seeking?
Susan Halli Demeter (guest): Yeah. A lot of times they'll know about their immediate family, but it can get a little more complicated when you're asking about siblings, especially if they don't talk to a sibling much, or they live far away, or they just don't discuss their health with them. Grandparents, sometimes they know, sometimes they don't, or aunts and uncles.
A [00:05:00] lot of times they know about the parents for sure. But, you know, if you're seeing a patient and their cholesterol is so high, you have to start thinking about, you know, do they have siblings? Do they have children? And, you know, making sure that the cascade screening process starts, if you do diagnose FH in these people.
Geralyn Warfield (host): Well, that is excellent information, Susan, we're going to take just a brief break and we will be right back.
Geralyn Warfield (host): And we're back with Susan Halli Demeter, discussing lipid management. If you were listening to us just a moment ago, we were talking about FH screening and how important it is to get information from family members, to be aware of what those key triggers are that should make FH kind of pop into your mind in terms of a possible diagnosis. Obviously, looking at those cholesterol levels. We're going to pivot just a little bit now and talk about triglycerides, another lipid component. So, I'm hoping, Susan, that you can talk about the importance of treating elevated triglycerides, particularly when it comes to residual cardiovascular risk.
Susan Halli Demeter (guest): Yes. [00:06:00] So a lot of times you may have their LDL pretty well controlled. But you'll see this residual high triglyceride level, and those triglycerides carry lipid-rich remnant particles, such as like very low-density LDL. And, between that, and having an elevated non- HDL, sometimes you'll check an apolipoprotein B level in those individuals and it's elevated and you know you need to intensify their regimen.
Sometimes, it's increasing their statin, if that's what they're taking at the time, which most of them are, or adding ezetimibe or adding something like icosapent ethyl, because it did show a significant reduction in cardiovascular risk in trials.
Geralyn Warfield (host): So, do you find that your patients are struggling to understand the difference between their LDL cholesterol, the triglycerides, and really questioning why they have to be on yet another medication for something [00:07:00] that maybe in their minds seems like the same thing?
Susan Halli Demeter (guest): Yeah. I mean, sometimes you do have to sit down with them and explain what all the different lipid values mean. And then the other thing with triglycerides is there's other secondary causes for why they can be elevated.
So, maybe they have underlying Type 2 Diabetes that's not well controlled, and their triglycerides are residually elevated as a result of that. Or, they have a thyroid disorder, or they're on an immunosuppressant or, you know, some other medication that's raising their triglyceride levels. And so you have to kind of look at the whole picture and to see is this something that's been persistently elevated?
Sometimes it's weight gain, you know, and especially if someone is more sedentary and you look at their weight trends over time and they're gradually increasing, you'll see, oftentimes, the triglycerides are increasing with that as well. And a lot of times the HDL is getting lower as well with that, too.
Geralyn Warfield (host): So, there definitely are a lot of factors when it comes to [00:08:00] lipid management. Is there anything that you would like to add that we have neglected to talk about?
Susan Halli Demeter (guest): The importance of lifestyle. So, yes, medicines can help reduce risk events, lower the numbers, but it's so important to encourage a heart-healthy lifestyle in our patients.
You know, remember the Life's Simple Seven. Really, you know, look at their, their diet if they need a referral to a dietician to help with a lot of this, because sometimes just some dietary strategies can really help improve the numbers, and it not only helps improve the lipids, but it also helps improve their diabetes, their blood pressure, so many other things.
Don't smoke, you know, that's another factor, alcohol in moderation (or not at all, if they, if they don't drink). So, you know, looking at that, making sure patients stay active, engage in regular physical activity, as much as tolerated. You know, if they can engage in 150 minutes a week-- [00:09:00] great! Not everyone can do that, but doing something is better than nothing.
Another thing to reinforce with patients with hypertriglyceridemia is the importance of weight loss in addition to the lifestyle piece, and that just losing 5 to 10% of their body weight can really impact their triglyceride levels and improve their lipid values overall.
Geralyn Warfield (host): Those are all great strategies for helping our patients be heart-healthy and address things like lipids in their lives.
Are there any resources that you would point our audience to if they have questions about lipid management; any good resources that you might recommend?
Susan Halli Demeter (guest): Yeah, so a great resource for our patients with familial hypercholesterolemia is the Family Heart Foundation website. I refer all my patients there to get accurate information, you know, just to learn more about their disease state.
It also has a lot of great resources [00:10:00] like letters that can be sent to family members to screen for FH. If they need to find a lipid specialist in their area, it has a map with lipid specialists that are available. There's blogs that patients can engage in to talk to others with similar conditions, and get feedback and just, you know, exchange feelings they're having about their condition. There's also helpful resources with the prior authorization process, because a lot of the medications that are used to treat familial hypercholesterolemia require a prior authorization and that process can be very challenging. The medications can get very expensive. So, it, it just has a wealth of information.
We also have a great resource as a tear sheet for our patients here on the PCNA website. So, to go to our website and use that, too, because it's a great resource.
Geralyn Warfield (host): Well, you have given us such great information about lipid management today. We are so grateful to [00:11:00] you for sharing your time and expertise with us, Susan, thank you very much. This is your host, Geralyn Warfield, and we will see you soon.
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