Melanie Cole, MS (Host): Welcome to UF Health MedEd Cast with UF Health Shands Hospital. I'm Melanie Cole. And here to highlight cardiac amyloidosis is Dr. Alex Parker. He's an Assistant Professor of Advanced Heart Failure and Transplant Cardiology in the Division of Cardiovascular Medicine at the University of Florida College of Medicine, and he's the Program Director of Advanced Heart Failure and Transplant Cardiology Fellowship.

Dr. Parker, thank you so much for joining us today. I'd like you to start by giving us a working definition about what cardiac amyloidosis is and how it affects heart function.

Dr. Alex Parker: Thank you, Melanie. I'm really happy to be here. So, cardiac amyloidosis is a disease of the heart where a protein, the amyloid protein, has deposited into the heart muscle, which makes it stiff. Heart failure comes in two different sort of phenotypes, where the heart fails to squeeze or eject blood, or the heart fails to fill with blood. And amyloidosis tends to cause the type of heart failure where the heart's unable to fill with blood. And it causes a heart failure with a preserved ejection fraction. And this leads to the typical symptoms of shortness of breath and fluid building up in the legs. But the amyloid protein also deposits in other tissues, very commonly in nervous tissues, causing neuropathies and can cause symptoms like bilateral carpal tunnel syndrome. And this combination of symptoms is what we often see in our patients that come in either with a suspected diagnosis or a confirmed diagnosis of cardiac amyloidosis.

Melanie Cole, MS: Dr. Parker, how has awareness and diagnosis of this condition evolved over the decades? I'd like you to speak about some of the challenges in diagnosing it. Why has that been the case?

Dr. Alex Parker: So for a long time, there wasn't an FDA-approved medication to treat amyloidosis. And so, there has been a change over the years where now we have options to treat this disease. And due to that new treatment option, we realize that we should do a better job of recognizing these patients.

Amyloidosis is commonly underdiagnosed. We have many patients that unfortunately have to see many different physicians before they ultimately receive this diagnosis. And some of that is because of those changes that you're mentioning over time where we weren't looking for a disease which we couldn't treat. But now, we have options and now we have diagnostic tools to detect amyloidosis. And we're trying to do a better job as a Cardiology community of making this diagnosis and treating these patients.

Melanie Cole, MS: What is the role of biomarkers, echocardiography, advanced imaging in that diagnosis? How have those things come into play?

Dr. Alex Parker: So in terms of biomarkers and echocardiography, these two modalities are great for screening purposes and for helping us get an idea there may be something going on with the heart. Biomarkers by themselves can't make the diagnosis of amyloidosis and neither can echocardiography. But whenever biomarkers are abnormal, so like for instance elevated troponin, BNP, as well as echocardiography findings such as substantial LVH or strain patterns on the echocardiogram, it may trigger us to think about cardiac amyloidosis in a patient with heart failure.

And so when those findings are present, we have to move along to the next set of testing. And that is often the advanced imaging testing. This includes things like cardiac MRI, as well as the more specific testing with things like a technetium pyrophosphate scan. MRI testing is used much more as time has gone on. It's become much more available to get a cardiac MRI test. The cardiac MRI can tell us that almost certainly someone has amyloidosis of the heart in particular. However, it can't tell you which type of cardiac amyloidosis exists. So then, we have to move along to the next set of testing, which is things like a technetium pyrophosphate scan, which if that is positive, is diagnostic of ATTR cardiac amyloidosis.

Melanie Cole, MS: What an exciting time in your field with these advancements that make diagnoses much more clear. So, speak about some of the current treatment strategies and how varying they might be depending on the type of amyloidosis that you've identified. Speak about some of the treatment options and some of the novel therapies like TTR stabilizers, gene silencing treatments. Tell us about what's exciting in your field.

Dr. Alex Parker: There's currently one FDA-approved treatment option for ATTR amyloidosis, and that's tafamidis. However, currently, there's another drug that has submitted for FDA approval, and that's acoramidis. But at this time, Even having tafamidis as an option fairly new prior to tafamidis FDA-approved option for the treatment of ATTR amyloidosis, especially for wild type amyloidosis.

So, some of the other therapies, so like the TTR silencers that you're mentioning, these are approved for patients that have variant or mutant type of ATTR, so these are patients that have amyloidosis from an abnormal protein that perhaps they've inherited, that causes a patient to develop this disease, sometimes even at an earlier age.

On the other side of the spectrum, amyloidosis, we typically divide up into ATTR amyloidosis, which is from the transthyretin protein, which can develop over time just with aging and buildup of this normal protein that has been misshapen into the amyloid protein, or from the bone marrow, from the proteins that normally form our antibodies. These light chain amyloidoses have a very poor prognosis when they're not treated. And there's constantly new treatments that are being evaluated and tested at this time. And so, it is definitely a wonderful time to be diagnosing and treating patients with amyloidosis.

Melanie Cole, MS: In what cases, and along this continuum, Dr. Parker, would heart transplant be considered?

Dr. Alex Parker: Heart transplant certainly is challenging for all types amyloidosis, particularly because amyloidosis tends to affect multiple organ systems. Transplant is reserved particularly for patients that have severe cardiac involvement, but they don't have involvement of the other organ systems. Transplant can be performed for cardiac amyloidosis. However, it is fairly uncommon only because of the way that other organ systems tend to be involved with cardiac amyloidosis.

Melanie Cole, MS: I think an important question or point here is the multidisciplinary approach in managing these patients. What specialties are typically involved in patient care because, as you've described, it's a complex condition?

Dr. Alex Parker: I think that in particular for AL amyloidosis, partnering with a Hematology specialist is crucial because the treatments for AL amyloidosis are treatments akin to chemotherapies. These are drugs that as a cardiologist, we're often not prescribing. And so, if I had to pick one, I would say the hematologist is a crucial part of the amyloid team.

Additionally, I would say that the pathologist is a very important part of team when you're evaluating patients with amyloidosis because the gold standard, one of the key tests to use whenever you have indeterminate or uncertain results from imaging studies is a heart biopsy. We try to avoid heart biopsy if we can. But me and my transplant partners here do several heart biopsies per year, and we do these and rely on our pathology partners to interpret the results of the biopsy samples, and they can tell us whether amyloidosis is present in the heart. But not only that, they can tell us what type of amyloid is present in the heart using that biopsy sample. But the pathologist is key, because we can't interpret that sample by ourselves.

Melanie Cole, MS: Along with these challenging diagnosis and treatment strategies, tell us how you support patients with cardiac amyloidosis and managing that psychosocial aspect of living with a chronic and often progressive condition.

Dr. Alex Parker: I think that it certainly is a challenge because this disease often does progress, and the disease affects multiple organ systems. And even in other types of heart failure, we often need our assistants, our team approach to help get patients quality of life that they want and deserve to have.

And so, we work with a team which involves physicians, nurse practitioners, physician assistants, nurses in clinic, a pharmacist in clinic, as well as social workers that allow us to take as close to a holistic approach as possible to help patients live their best quality of life. Because as you mentioned, this disease can be progressive and often is. And some of the medications can be very challenging to get due to expense. And so, working with a team that is multifaceted and experienced with treating amyloid patients is critical.

Melanie Cole, MS: This is a very interesting conversation, Dr. Parker, that we're having today. As we wrap up and your key takeaways to other providers about cardiac amyloidosis and something they may not know that much about, are there any cutting edge clinical trials, emerging therapies that show more promise for improving outcomes for these patients and what would you like the key takeaways to be?

Dr. Alex Parker: First and foremost, I would like the key takeaway to be please send us patients if you are uncertain about a diagnosis of cardiac amyloidosis or if there is a patient that you think may have amyloidosis, and we aren't sure where to start the testing. Because through a process of testing multiple patients and working through the system, we've become fairly efficient at at finding out does this patient have the disease and can we help them? And amyloidosis is a very underdiagnosed, underappreciated disease. And I think that there are several patients, you know, especially in the aging population of Florida that are developing amyloidosis and we can try to help them out.

Finally, in terms of research, there are a lot of exciting upcoming opportunities for potential research here at the University of Florida, and I think that our goal is to find some novel way to help our patients here at UF and enroll as many patients in clinical trials if they're interested in being involved.

Melanie Cole, MS: Thank you so much, Dr. Parker. Please join us again as you learn more. And to learn more about this and other healthcare topics at UF Health Shands Hospital, please visit innovation.ufhealth.org or to listen to more podcasts from our experts, you can always visit ufhealth.org/medmatters.

That concludes today's episode of UF Health MedEd Cast with UF Health Shands Hospital. Please always remember to subscribe, rate, and review UF Health MedEd Cast on Apple Podcasts, Spotify, iHeart, and Pandora. I'm Melanie Cole. Thanks so much for joining us today.