What is Familial Hypercholesterolemia

Podcast Transcript

Announcer:

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Dr. Leslie Cho:

Hi, my name is Leslie Cho. I'm the section Head for Preventive Cardiology and Cardiac Rehabilitation. And today I'm super excited to have Dr. Ashish Sarraju, our new member of our preventative family, join us to talk about inherited disorders of high cholesterol. Dr. Sarraju joins us from Stanford. I'm going to let him introduce himself, Ashish.

Dr. Ashish Sarraju:

Thank you, Dr. Cho. It's wonderful to be here as part of the section of preventive cardiology here at the Cleveland Clinic. My main academic and clinical interests within cardiology, as you know, Dr. Cho, lay within complex hyperlipidemia disorders or high cholesterol conditions, especially folks with genetic risk for high cholesterol and particularly a condition called familial hypercholesterolemia or FH.

Dr. Leslie Cho:

Okay, so the most important question, what is FH?

Dr. Ashish Sarraju:

Great question. So FH is one of the most common inherited lipid disorders in the United States. It's a condition that through genetic mutation or mutations, leads to lifelong elevations in cholesterol, particularly low density lipoprotein cholesterol or LDL cholesterol, which is the one that often gets tagged as the bad cholesterol.

Dr. Leslie Cho:

So how common is it?

Dr. Ashish Sarraju:

It is surprisingly common. So there are two forms of the disease. There's a form called heterozygous FH, in which folks carry a single copy of the mutation, and then there's homozygous FH in which folks carry two copies of the mutation. Heterozygous FH is as common as one in 200 to one in 300 people in the US and it's estimated that maybe only 10% of those are diagnosed with the condition. Homozygous FH is much more rare. It's really more on the order of one in several hundred thousand to one in a million.

Dr. Leslie Cho:

So how do you get diagnosed with FH?

Dr. Ashish Sarraju:

That's a great question. And that's been one of the bottlenecks in diagnosing and treating FH in the United States and why diagnosis rates may be low. But typically what we see is that folks either come in with a heart attack or a stroke at a very young age and get their cholesterol checked and it's surprisingly high, and that starts the cascade of testing. Or they have routine lipid tests and they're astute clinicians or the patients who are astute themselves seek additional testing and get diagnosed with it.

Dr. Leslie Cho:

So what's the magic number that should trigger someone to think about, maybe I have FH?

Dr. Ashish Sarraju:

Yeah, that's a great question. So I would say adults with an LDL cholesterol that's greater than 190, 190 mg/dl should certainly consider it, as well as those who have a strong family history of heart disease, even if their LDL cholesterol doesn't quite reach the 190 level. If it's elevated, I think it's reasonable to think about it.

Dr. Leslie Cho:

So let's say our patient has an LDL of 190, should they come and see a cardiologist or a lipid specialist?

Dr. Ashish Sarraju:

I think so. I think they should, because at that degree of LDL cholesterol it makes sense to think about FH proactively, and then go through the diagnostic testing and screening for FH, which includes everything from taking a very detailed personal and family history, doing a focused physical exam, for findings consistent with FH and potentially even thinking about genetic testing to establish the diagnosis.

Dr. Leslie Cho:

So when people hear the word genetic testing, all they think about is, "Oh my God, it's so expensive."

Dr. Ashish Sarraju:

Yeah.

Dr. Leslie Cho:

So how expensive is it?

Dr. Ashish Sarraju:

Well, thankfully, genetic testing costs have dropped substantially. And so now you can hear quotes from anywhere from a few hundred dollars to maybe even less than a hundred dollars sometimes, and in some cases insurance may cover it as well.

Dr. Leslie Cho:

And why is it so important to have that genetic testing?

Dr. Ashish Sarraju:

That's a great question. So the utility of genetic testing is not only in helping screen family members, which I would say is one of the most crucial aspects of this diagnosis. I like to say we don't diagnose people with FH, we diagnose families with FH, and so genetic testing helps us make those diagnoses proactively. Also, there's work showing that even at the same or comparable levels of LDL cholesterol elevations, people with the genetic mutation tend to have a higher risk for heart disease than people without the genetic mutation. So it does help us prognosticate, and it helps us be more aggressive, you could say, in managing those individuals.

Dr. Leslie Cho:

So let's say our patient got the LDL, had the genetic testing and it's positive. So what would be the treatment options for them?

Dr. Ashish Sarraju:

Yeah, absolutely. So first and foremost, the goal of FH treatment is to reduce their heart disease risk. And so we'd want to intensify lifestyle measures to reduce the LDL cholesterol. Usually we would require starting medications to control the LDL cholesterol. First line medications are usually statin medications, which are incredibly effective and generally lifesaving. But if additional control is needed, we have second line and third line therapies that we can turn to for these individuals as well.

Dr. Leslie Cho:

So, like what are some of the second and third line therapies?

Dr. Ashish Sarraju:

Yeah, it's a great question. So there are second line pills, of course. There's a medication called Ezetimibe, which can reduce the LDL by a modest degree. But beyond that, there are injectables, for example, PCSK9 inhibitors, which can reduce the LDL cholesterol by 50% or more. They're taken every two to four weeks, and they can be extremely effective in these patients. Beyond PCSK9 inhibitors, again, there are a number of advanced therapies that we can consider for these patients.

Dr. Leslie Cho:

Wonderful. So for our patients who want to learn more about FH or they think they might have FH, you can go to our website and find out more about it. Thank you.

Dr. Ashish Sarraju:

Thank you.

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