Transcription:
Cardiac Amyloidosis

Prakash Chandran (Host): Welcome to UK Healthcast, the podcast from the University of Kentucky Healthcare. I'm Prakash Chandran. Today, we'll be talking about cardiac amyloidosis, a rare and progressive disease that primarily affects the heart's ability to pump blood efficiently, but can also lead to serious issues with other organs. Very few facilities have the resources to identify and treat this condition. But at UK Healthcare, there are a few options. We're going to learn more about it today with Dr. Gaurang Vaidya, a cardiologist for UK Healthcare. So, Dr. Vaidya, really great to have you here today. Thank you so much for joining us. I'd love to get started by you telling us a little bit about your work and your specialty.

Gaurang Vaidya, MD (Guest): Well, thank you so much for having me, Prakash. Yes. So, my name is Gaurang Vaidya. I am a Board Certified Heart Failure Cardiologist. By that, I mean, I'm a Cardiologist who specializes in people who have advanced heart failure, heart weakness, especially those who need mechanical devices or a heart transplant because they're inherent heart or the heart that God gave them, has gotten too weak.

Host: Okay. And today we're talking about cardiac amyloidosis. Can you tell us a little bit more about what it is and how it affects the heart?

Dr. Vaidya: So that is a very good question. So cardiac amyloidosis really is a disease where you have sticky proteins that are formed in your body. Amyloid is basically, what happens is everybody's body has a tendency of making proteins in the liver and these proteins have certain requirements that they fulfill in your body. Because Because of old age or because of some genetic problem, and in fact, many times we don't even know why this happens, but these proteins get malformed or misformed, and these misformed proteins then cannot be degraded by the body anymore. Well, the body knows how to take care of the well formed proteins, but not these misformed proteins.

And then these proteins hang around in the body like plastic hangs around in the sea. And then these over time form clumps that are found that are called amyloid. And then these amyloids may go and stick to various organs, such as the heart, the liver, the kidney, and they may interfere with the function of those individual organs. When they predominantly affect the heart, they're called cardiac amyloidosis.

Host: Okay, understood. And I know you mentioned that it's hard to say what exactly causes this, but tell us about the patients that this affects, you know, tell us about who they are and what are their symptoms like when they have this.

Dr. Vaidya: So, usually it affects males more than females. That is what we understand from the population studies. But some of these previous estimations are being, are changing. Now that the new, there are new diagnostic imaging technology that is available, but, traditionally it is thought to be affecting older males. There are some genetic diseases that can cause amyloid too. So it can also run in the family. Most patients who have cardiac amyloid will have symptoms that are quite similar to people who have heart failure. They will have shortness of breath, swelling in the legs, feeling excessively fatigued, lethargic.

They will have various cardiac ailments that are not able to be treated with regular heart failure medications. Like they may have all these diseases like atrial fibrillation or aortic stenosis, et cetera. So these, they may have unusual cardiac manifestations that are not responding to heart failure therapy.

Host: Okay. Interesting. And that kind of leads me to my next question. How is this initially diagnosed? You said that it is very similar to the symptoms of heart failure, but tell us a little bit how this typically gets picked up.

Dr. Vaidya: Yeah. It really comes down to something that we call pattern recognition by the physicians who are treating the patient. As I said, the symptoms are very similar to any other heart failure patients. The patients will have shortness of breath and swelling in the legs, fatigue, not being able to sleep flat at night, et cetera. One thing that tips the physicians off is the usual non-responsiveness to regular heart failure medications. They keep on coming back to the hospital because the medicines are just not working for them. The other thing that also happens is the association of other organs and other organ failure.

Like these patients may have peripheral neuropathy as in they feel like they're walking on pins and needles. They get dizzy quite often when they stand up and quite profoundly. Some people may have kidney problems much earlier in the disease. One other big harbinger I should say of this disease is an association with joint problems.

Many of these patients have a history of carpal tunnel syndrome and this usually precedes the heart symptoms by 10 years. So 10 years ago they had a carpal tunnel surgery, or they had a spinal surgery, or they have a messed up shoulder for which they had a surgery, or they had ligament tear. Some, some unusual connective tissue disease or unusual joint disease that precedes the heart symptoms by at least 10 years. That can sometimes be a tip-off.

Host: And why is that?

Dr. Vaidya: It really is because of the amyloid again, getting deposited much earlier in the joints that can interfere with the functions of the ligaments and tendons. And then eventually as the disease progresses, the amyloid ends up attacking various other organs. The accumulation is a slow process, but it's a progressive process.

Eventually the function of the organ gets affected to an extent where it becomes manifest. So once the heart gets affected, the heart gets stiffer with time and then the people start having symptoms such as shortness of breath, trouble breathing. Again, other organs will also get affected around the same time. So they may have kidney troubles, liver troubles nerves may get affected and they may have neurological symptoms.

Host: Yeah, I can see why identifying this is so difficult and why it really takes a physician with a lot of experience. So, let's say that a physician does identify that it is cardiac amyloidosis. Is there a treatment for the condition and what does that treatment look like?

Dr. Vaidya: Yes. So, actually there is a treatment. In fact, there are many treatments, I should say. This is different than what used to be 10 years ago when this disease was a fatal disease. There was that statement at that point in time. But now with a new technology, a new advent of medications, there are certain oral medications. There are some injectable medications that have been shown to actually improve the, improve the outcome of the patients and also preserve the quality of life. So these medicines, what they do is they the park the patients or whatever symptoms they are for much longer. Remember this is a progressive disease.

So people will slowly have a decline in their quality of life. But these medicines, they make sure that the decline is much slower. And that's why diagnosing this disease becomes that much more prudent that we do it much earlier in the course of the disease.

Host: So, speaking about that, is there any way to get screened or how do you recommend that people be proactive about trying to get it diagnosed sooner if they kind of fit the bill of people that might be diagnosed for it?

Dr. Vaidya: I think the first step would be to bring it up with their physicians, to see if their symptom pattern fits with a, with a diagnosis of cardiac amyloid. If the patients want, they could also refer themselves to me or to any other cardiologists at UK. All of us are pretty well-trained at being able to recognize cardiac amyloidosis. Whether it is me or any other cardiologists that I've had extensive discussions with in my entire department.

And the first step would be from then, would be to undergo certain imaging studies that have been shown to be very accurate, to diagnose cardiac amyloid. And this is something that we have set up at UK is to do these imaging studies.

Host: Yeah, I was just going to ask you one of the things that I've heard is that you're involved in research when it comes to cardiac amyloidosis. And I'm assuming this is something that patients that are concerned about it can get involved in if they were so inclined. Is that correct?

Dr. Vaidya: Absolutely. So, at this point in time, the biggest barrier that we, that we have with diagnosing cardiac amyloid is the requirement of certain imaging studies that are very accurate, but at the same time, they are not as widely available outside of UK. So, unless the patient has access to healthcare as advanced as is available at UK, then many patients will miss out on it.

So, we don't have any blood tests or other parameters to which a physician out in the community can diagnose cardiac amyloid. And that is where we me and certain other researchers are actually working to find clues in the blood that can actually point the physicians towards the diagnosis of cardiac amyloid.

Host: Yeah, that's absolutely fascinating. And speaking about those potential findings, is there anything that's worth noting or a lead that you're trying to track down in the research?

Dr. Vaidya: Yes. So, we are actually trying to find the misfolded protein in the blood. Right now, we don't have the technology to do that, but we are trying to find a more commercially viable way of actually finding this fraction, this misfolded fraction, which is very unusual. Like I, or people who do not have cardiac amyloid will likely not have this misfolded protein to that extent as much as people who have, they manifest cardiac amyloid.

So that could be a good way of you know, saying that this patient could potentially have cardiac amyloid just based on the fact that they have this high levels of misfolded protein.

Host: Yeah. And then that will lead to, if this misfolded protein is able to be discovered earlier in their life, it's something that you can watch over time and it will obviously prevent this from getting much worse, because it is a progressive disease. Is that correct?

Dr. Vaidya: Absolutely. And in fact, we can also follow the treatment success. So if a certain treatment is not working, we can switch over to a different treatment where that previous treatment not show that there's improvement in this misfolded levels, misfolded protein levels.

Host: Yeah, absolutely fascinating. So, just before we close here today, is there anything else that you wanted to share with our audience just regarding cardiac amyloidosis or the work that you're doing?

Dr. Vaidya: Yes. I would like to reiterate that, you know, this disease used to be a fatal disease at one point in time. But now with the new treatment, it is something that we can really control. There is a fraction of the patients that could also qualify for heart transplantation, but again, the caveat here is that people need to be diagnosed much sooner. Only the people who qualify for heart transplant are those who have their heart as the only predominantly affected organ.

Once it starts affecting other organs, it becomes difficult for them to qualify for heart transplantation. And same is true for treatments too. They work best if they are actually started much earlier in the course of the disease.

Host: Yeah. And if I could just stay with that for a second, I really want to make sure that people are proactive about getting diagnosed. So, you know, what we've talked about already is that it affects males more than females, that it affects older males, that it has a lot of the same tendencies as patients with heart failure.

But at what point, should someone start to think about seeing a specialist like yourself? Like, is it when they hit a certain age? Is it when they're a certain age and they're experiencing, you know, that shortness of breath or the swelling in the legs? Maybe talk a little bit about when it's time to see that specialist.

Dr. Vaidya: Absolutely Prakash. So, if I where to give you a simple answer, the answer would be 60 years of age, but the answer is a little bit more complicated than that. There are two forms of this particular cardiac amyloid. The CTR form of amyloid, which I'm most concerned about, which there is a hereditary form and there's a more wild type form.

The hereditary form, could manifest as early as in the fourth decade of life. So people could be as young as 40 years of age and they could have ,amyloidosis just because the process started much earlier. Right? When right about the time when they were born. On the other hand, people who have wild-type, where they developed a mutation around the course of their lives, they may have a manifestation much later, and that might not start until the six or seventh decade of life.

Host: Well, let's hope that your research around that misfolded protein accelerates so we can detect it sooner, right?

Dr. Vaidya: Yes, absolutely.

Host: Dr. Vaidya, this has been truly fascinating. Thank you so much for your time today. Any final thoughts just before we sign off?

Dr. Vaidya: Yes. I would like to say that if any physician or patient is interested in learning more, they could search the UK website on Google. You could just type cardiac amyloidosis, University of Kentucky. And the first page that comes up is our website that tries to delve into the basics of cardiac amyloidosis for patients and physicians, and also has, is a great resource for anybody who wants to refer themselves or their patients, because it has a direct link for referral as well.

Host: All right. Well, I think that's the perfect place to end Dr. Vaidya. Thank you so much for your time.

Dr. Vaidya: Thank you so much, Prakash.

Prakash Chandran (Host): That's Dr. Gaurang Vaidya, a Cardiologist for UK Healthcare. For additional information about Dr. Vaidya and the cardiac amyloidosis clinic at UK Healthcare, please visit Dr. Vaidya's doctor profile at ukhealthcare.uky.edu/doctors/G A U R A N G-V A I D Y A. You can scroll down to find cardiac amyloidosis under related services. If you found this podcast to be helpful, please share it on your social channels and be sure to check out the entire podcast library for topics of interest to you. Thanks for checking out this episode of UK Healthcast with the University of Kentucky Healthcare.

My name is Prakash and we'll talk next time.