What is Amyloidosis and How is it Treated?Amyloidosis is a rare and possibly life-threatening disease affecting an estimated 4,000 people per year in the US. If left untreated, the disease can cause severe organ damage, so early detection is…
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March 24, 2022 Interviewer: Amyloidosis is a rare and possibly debilitating disease, which affects about 4,000 people a year in the United States. If left untreated, the disease can cause severe organ damage, so early detection is critical. Dr. Aman Godara is an amyloidosis specialist at Huntsman Cancer Institute. Dr. Godara, first of all, what causes this disease? Dr. Godara: So amyloidosis is a rare and complex disease where a protein misshapes itself, becomes the amyloid protein, and then deposits in different organs of the body causing damage. Interviewer: So it collects in different organs? Dr. Godara: Correct. Interviewer: And for each patient, it could be a different organ. It could manifest itself differently. Dr. Godara: The type of protein that's behind amyloidosis could affect what type of organ is involved in the body. Interviewer: And the diagnosis for a lot of patients can be kind of an aha moment because it can manifest in different ways. Somebody could be experiencing some sort of abdominal pain and just really can't track down what it is, and it ends up being amyloidosis. Explain that a little bit more, that aha moment. Dr. Godara: So the diagnosis of amyloidosis can be very challenging because, as we mentioned, there are several different types of protein that can cause several different manifestations in the body. So usually, when a patient is being diagnosed with amyloidosis, the diagnosis requires a biopsy of an organ or a tissue in the body that we suspect would be involved with the amyloidosis. There have been some newer developments in diagnosing amyloidosis, and that's the type of a nuclear scan that we have started using to diagnose a type of amyloidosis that we call as the ATTR amyloidosis. Depending on the type of organ that's being damaged by the amyloidosis, the symptoms could vary along. If someone's heart is being damaged with amyloidosis, usually patients with heart damage from amyloidosis experience shortness of breath, they experience swelling in their legs, and when they go to see a cardiologist, they are usually identified to have heart failure. When amyloidosis affects the kidneys, it can cause leakage of protein in the urine, which can manifest itself as a form of urine. Sometimes patients with amyloidosis have involvement of their nerves and that can manifest as painful neuropathy involving their arms or their legs. Interviewer: So when somebody is experiencing some of those symptoms, they might go to their family doctor, right? And it sounds like this could be a lot of different things. Is it pretty easily misdiagnosed at first? Dr. Godara: As the diagnosis for amyloidosis is so challenging, misdiagnosis occurs often because the type of symptoms that come along with amyloidosis can occur from other diseases and other conditions. If a patient is experiencing symptoms of heart failure, that could manifest from a different number of reasons. When patients have kidney dysfunction, that can also occur from a list of different conditions that can damage the kidneys. So often at the point of care, when these patients are experiencing symptoms that might be related to amyloidosis, the patients end up seeing multiple different types of specialists before they are diagnosed with amyloidosis. And there are certainly some delays in diagnosis that, on an average, patients take 6 to 12 months to be diagnosed with amyloidosis from the time their symptoms start. Interviewer: And that's important because time is really important with this diagnosis because the damage to that particular organ keeps occurring. Dr. Godara: The damage from amyloidosis is progressive damage. So the longer we are taking to diagnose amyloidosis, the more damage would occur in that organ that's being affected by this disease. So timely diagnosis is of utmost importance. Patients who are diagnosed earlier in the course of disease might have damage to that organ that could be reversible at that point. But ultimately, if we miss a diagnosis, and it takes a really long time for a patient to be diagnosed with amyloidosis, that damage to the kidney or to the heart could end up being an irreversible damage that even treatments would not be able to recover from. Interviewer: That's really challenging because as a person that has a condition, sometimes you have to go through some multiple diagnoses to figure out what it is. Is there any piece of information that a patient might have that would indicate earlier than later that it is an amyloidosis? Dr. Godara: So patients who are suspected to have amyloidosis usually require a comprehensive evaluation to identify the type of amyloidosis and to identify the manifestations of it. So the workup depends quite a bit on the type of amyloidosis that we are suspecting. If we are suspecting lichen amyloidosis, that occurs from the excess of lichens, the first and the foremost test that we perform for those patients are blood and urine testing to identify if they have an excess of lichens, which could ultimately be causing amyloidosis. If patients have an excess of immunoglobulin lichens in their blood or urine, the next step for those patients is to have a bone marrow biopsy to identify any clone in the bone marrow that might be producing these excess lichens and ultimately the amyloidosis. The other type of amyloidosis that we commonly see is the ATTR amyloidosis, which occurs off a defect in the transthyretin protein that is being produced by the liver. Patients who have ATTR amyloidosis could either be patients who have developed this type of amyloidosis because of old age or this could also be the type of amyloidosis that runs in the family. So if we are suspecting a patient with ATTR amyloidosis, and we suspect that they have some cardiac damage from it, there is a nuclear scan of the heart that can help us identify this type of amyloidosis. This scan is called as the PYP scan. Patients who have a more genetic form of ATTR amyloidosis, we have genetic testing that can be done either through a swab or a blood test that can help us identify the hereditary type of ATTR amyloidosis. Interviewer: How reliable are these tests? Dr. Godara: When patients undergo evaluation for amyloidosis, the blood and the urine testing usually helps indicate whether or not there is any damage that's occurring to the different organs in the body that we would suspect in a patient with amyloidosis. So they only tell us to a certain extent. Ultimately, patients would require either a tissue biopsy or an organ biopsy to see that amyloid accumulation happening in that organ to have a confirmation of this type of diagnosis. Interviewer: Many patients find information on the internet when it comes to this disease that can cause anxiety and apprehension. Why is that? Dr. Godara: I think the answer to that lies in the complexity of the disease. When patients look up amyloidosis, one thing that they might not know at that time is the type of amyloidosis that we are suspecting that they have. The workup for amyloidosis, the treatment for amyloidosis, and the prognosis of amyloidosis depends a lot on the type of amyloidosis that they have. So the information on the internet might not be very accurate to the fact to the type of amyloidosis that these patients have. And the generalized information can create a lot of confusion and apprehension. Interviewer: So somebody could find out they have amyloidosis but not exactly know what kind, go to the internet, start doing some research, and then that can be scary place. Dr. Godara: I think that's correct. When we see patients who are referred to us for amyloidosis, patients have very limited knowledge as to what this disease entails and why this diagnosis is being suspected. So my job for my patients is to explain to them why the suspicion exists, and what do we need to do to identify whether or not they have amyloidosis. The information that's available for the patients before they have completed the evaluation could be very generalizable and might not be important to that type of amyloidosis that they have. Interviewer: And let's talk about treatments for the condition. So you have a positive diagnosis, you know what kind it is, you know what it's impacting, I would imagine that the treatments that you would give depend a lot on the same kinds of things we've talked about up until this point. Dr. Godara: So as there are so many types of amyloidosis that can inflict damage into the body, the treatment basically depends on the type of amyloidosis. So there have been a lot of developments and a lot of exciting work has been done for patients with amyloidosis in the last few years. So when we see patients with lichen amyloidosis, just last year, we had a treatment that is specifically developed for patients with lichen amyloidosis that was approved by the FDA. This is a combination of four medications together that not only results in eradication of the clone that causes amyloidosis, but also helps improve the heart, kidneys, or any other organs that might have been damaged as a part of this condition. So patients who have transthyretin amyloidosis have two different types of treatments available for them. One treatment focuses on stabilizing the transthyretin protein and preventing it from turning into amyloidosis. And the other type of treatment targets the liver and prevents it from producing the transthyretin protein, so that ultimately you cut out the source that would be causing amyloidosis. So there's been a lot of progress and a lot of other new treatments that are in clinical trials for these two types of amyloidosis. For several other types of amyloidosis, we don't have any treatments available yet. Interviewer: And for those patients, is it just managing the disease best you can, managing the symptoms? What's the strategy? Dr. Godara: So patients who have types of amyloidosis that we don't have treatments for, our focus remains on the organs that are afflicted from this disease. We try to support the organs that are damaged as a part of amyloidosis, and sometimes these patients will end up receiving a kidney transplant, or a liver transplant, or a heart transplant depending on what type of organ was damaged, irrespective of whether or not we have any treatments available for that type of amyloidosis. The first and the foremost thing for patients with amyloidosis is to identify these patients at the earliest, because the sooner we take to diagnose this condition, the sooner we can try to reverse this process. Delays in diagnosis can ultimately hurt the patient, so we have to create awareness at all levels of our healthcare system to identify these patients who might or might not have amyloidosis so that they undergo the appropriate workup and have a confirmation on whether or not they have this condition. So we need to create awareness not just at the level of the primary care doctor, but also the specialists that our patients see. And at the same time, we also have to increase the awareness about this rare disease with our patients, so that if they have one of the symptoms that we relate with this condition, our patients can come to us and be evaluated for the suspicion. The one thing that patients with amyloidosis require is a comprehensive evaluation. So when we suspect amyloidosis in a patient, our patients require a multidisciplinary team to not just help identify whether or not they have amyloidosis, but also once the diagnosis has been confirmed, we can focus not just on the cause of what's causing the amyloidosis but also help support the organs that are damaged as a part of this disease. So at the Amyloidosis Program at Huntsman Cancer Institute, our patients receive care under a team of specialists that includes representation from cardiology, nephrology, and neurology to provide the best possible care that our patients need.
Amyloidosis is a rare and possibly life-threatening disease affecting an estimated 4,000 people per year in the US. If left untreated, the disease can cause severe organ damage, so early detection is vital. Learn what causes the disease, how to detect it, and what treatments are available to patients. |
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What Makes Treatment Here DifferentWhat Makes Treatment at Huntsman Cancer Institute at University of Utah Health Care different?
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Coordinating Care in a Specialized Clinic a Proven Way to Treat AmyloidosisAmyloidosis can affect so many different organs and affects everybody in a different way. Because of this, you really need to go to a clinic that specializes in amyloidosis and has all the physicians…
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May 14, 2015
Heart Health Interviewer: If you've been diagnosed with a condition called amyloidosis", you know finding a clinic that can treat the condition that has all the experts you need can be a little challenging. We're going to talk to one of the specialists at the University of Utah and Huntsman Cancer Institute Amyloidosis Clinic next on The Scope. Announcer: Medical news and research from University of Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope. Because amyloidosis can affect so many different organs and it affects everybody in a different way, in order to get effective treatment, you really need to go to a clinic that specializes in that treatment that has all the physicians that you would need to see under one roof so you don't have to try to coordinate your care. There is such a clinic at University of Utah Hospital. It's ran jointly between University of Utah Hospital and Huntsman Cancer Institute. We're lucky enough to have Dr. Jose Nativi here. He's a Cardiovascular Director of the Amyloidosis program at the University of Utah and Huntsman Cancer Institute. This is an inter-disciplinary clinic as they say. You're a cardiologist. What are some of the other type of specialties that are in this clinic? Dr. Nativi: Because of the nature of amyloidosis to tend to affect several organs, what we offer in our clinic is a multi-disciplinary practice, not only about with doctors but including . . . the patient will come and he will be evaluated by a nutritionist. There's a lot of misconceptions about what to do in nutrition. Some patients because they believe that the disease is a protein issue, they will stop eating protein. Interviewer: And that's not how to solve the problem. Dr. Nativi: No. They need a lot of counseling, a lot of teaching. They will be seen by nutritionists, a social worker, a cardiologist, a nephrologist, a hematologist and then also depending on the situation, the patient might be seen by a neurologist and other providers. The idea is the patient in the first visit is evaluated by a comprehensive team and depending the type of amyloidosis, the organs that are affected, then we can target the therapies individualized for each patient, each case and what organs are affected. Interviewer: Sometimes I think people might think that this thought of targeted treatment is kind of a buzz word. But it sounds like in this particular disease where it could be caused by proteins coming from different sources, it can affect different organs, truly everybody is different is how it presents. Dr. Nativi: You're totally right. It's a combination of the multi-organ system. Also, the preference of the patient makes a significant role in how we're going to treat this patient and what we're going to offer. Interviewer: There are some alternatives and you have to sit down and discuss those even. Dr. Nativi: Totally. Clearly, the message is there are several options but it will depend on what are the characteristics of the patients, what are the organs affected. We as a group, we discuss each case, all the members of the group because what happens is that sometimes, because the patient has different organs, they will go to different doctors and then they will get messages from different doctor, different provider. The kidney doctor would give him a message. The lung doctor would give him a message. The heart doctor would them a message. We try to avoid that so we discuss each case as a group and then even though the patient is seen by a lot of providers, there's only one plan that we all agree that will be the best care individualized for each patient. Even though it's multi-disciplinary, it's one plan per patient. Interviewer: Somebody would use their clinic in a couple ways. First of all, if they suspect that they may have this condition, you guys would actually diagnose it. Then, you will treat it as well. Dr. Nativi: Yes, we provide comprehensive evaluation and then also, there are some patients that already have established diagnosis of amyloidosis and sometimes they have recurrence of their disease. Sometimes, they start with one organ, now they have three organs, the level of complexity is higher. Sometimes patients, they would like to see what is out there because not all centers of amyloidosis are enrolled in clinical trials or have the last medications and therapies for amyloidosis. Some patients are just curious to see what is new in amyloidosis. We provide all of that counselling and we work very close together with their primary care doctors, with the other doctors that have treated the patient before. There's a close communication to see what has been the history, how the patient has been treated, and then we evaluate the current situation of the patient and try to provide the best advise that we have. That includes the standard of care and also what new opportunities for research that we are offering. Interviewer: You are involved in many clinical trials form what I understand. Dr. Nativi: Yes, one of the clinical trials that we're very excited that we would like to share today is for patients with transthyretin amyloidosis. This is a clinical trial for medication that the medication will bind to the protein, will avoid the misfolding of the protein and will avoid the deposit of the protein in tissues. This medication is already approved in Europe so it's not a total new medication that we're testing. It's already used for all the types of amyloidosis in Europe with very good profile, very good safety profile. Now, we're going in United States in to all the clinical trials for FDA approval. All the patients with the diagnosis of transthyretin amyloidosis, we can go to ages up to 90 years old to role in this clinical trial, can be screened to participate in this study. I think this is a good opportunity. We believe that medication is already working for all types of amyloidosis so the field belief that the chances that this is going to change the outcomes for patients for transthyretin amyloidosis is very high. We believe that this could be a very effective medication. Other things about this trial is that old patients, when they completed the study, all the patients will receive the medication after the study if they complete it. This is very good for our patients with amyloidosis. A lot of things going on for amyloidosis these days. A lot of new medications coming in the future. We'll be glad to review with the providers of the patients what options and what clinical trials we have open and available for them. Interviewer: Where could somebody find more information about what you have as far as clinical trials at the center? Dr. Nativi: A simple search of Utah amyloidosis will bring our webpage. It's Amyloidosis Program in Huntsman Cancer Institute and the University of Utah. In our webpage, you will find several information about symptoms of amyloidosis, treatment options for amyloidosis, research, clinical trials that we're offering for amyloidosis, and also our support strategies, support groups that we're organizing for this condition. Interviewer: Contact information if somebody wants to talk to you. I would imagine you would be more than happy to talk to a potential patient. Dr. Nativi: Of course, our webpage includes our phone numbers, includes our email address, our webpage and just call the University of Utah or the Huntsman Cancer Institute asking for the Amyloidosis Program. A very simple question we're asking directly either to my name, Jose Nativi. I'm the Cardiovascular Director. There's Dr. Tibor Kovacsovics. He's the Hematology Director and we have Dr. Joe Abraham. She's a Nephrology Director of our center. It's a multi-disciplinary program and we'll be more than happy to answer your questions. We receive a lot of those questions like, "I'm not sure if what type I have or I'm not sure if I should be getting something. Can you give me an opinion?" We're more than glad to guide you a little bit either by the phone, email or our webpage. Then formally, we can do a more formal consult. We will be happy to take questions too and try to guide you through all of these common questions that come with patients with amyloidosis. |
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What is Amyloidosis?Dr. Jose Nativi is a cardiologist and director of the amyloidosis program at University of Utah Health Care and Huntsman Cancer Institute. He explains what amyloidosis is and why it’s so tricky…
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May 08, 2015
Heart Health Interviewer: Amyloidosis is a rare but not uncommon disease that is a lot of times difficult to diagnose and can be very tricky to treat. If you've been told that you have this condition or know somebody who has, this is the podcast that's going to help explain it and help you understand it better. That's coming up next on The Scope. Announcer: Medical news and research from University of Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope. Dr. Jose Nativi is a Cardiovascular Director of the Amyloidosis Program at University of Utah and Huntsman Cancer Institute. He's an expert in this stuff and we're going to explore with him this condition. What you need to know and what kind of treatment options are available. So let's talk about the condition first. You're a cardiovascular expert, but from what I understand this condition can affect a lot of different organs in the body and that's part of what makes it complex. Is that a fair statement? Dr. Nativi: That's right. Amyloidosis mainly is a condition when there's proteins in your body that they misfold and then deposit on several tissues. So depending on what tissue is affected, symptoms are going to appear and also depending on the type of protein that is going into the several tissues, it will have an impact in your system. Interviewer: Two different variables here. Dr. Nativi: Right. Interviewer: That's kind of unusual for any sort of illness or disease. It makes it very complicated. Dr. Nativi: Right. These patients tend to show with multiple symptoms, as you mentioned. If the deposition is in the heart, it will come with heart failure symptoms, like shortness of breath, cough, fatigue. But at the same time, they might have the deposition in the kidneys and they will come with swelling legs, weight gain. And sometimes, unfortunately, it takes time for these patients to underwent the full workup and finally get into the diagnosis of amyloidosis. Interviewer: Depending on what organ it gets into it sounds like it starts with the symptoms of that organ failing. Dr. Nativi: Exactly. So it's hard to recognize at the beginning. Amyloidosis the majority of the times, get a different diagnosis. The most common example is the patients with carpal tunnel syndrome. We have patients that they go into carpal tunnel surgery because of numbness of the hands but later, with time and with the progression of the disease, we figure out that this carpal tunnel syndrome was amyloid deposition in the nervous system. So, yes, it will depend heavily in what organ is affected and you need a big multidisciplinary team to make a comprehensive evaluation and make sure that you evaluate the majority of the organs that could be impacted by amyloidosis. Interviewer: What are the organs that could be impacted? Dr. Nativi: Heart is one of the most commons. It's affected in all types of amyloidosis. Interviewer: So regardless of my other symptoms, likely my heart's going to be affected if I have this? Dr. Nativi: In the majority of the cases, yes. Interviewer: And then other things on top of that? Dr. Nativi: Correct. Kidneys is very common. Kidney patients will have abnormal proteins and then they go into a routine check-up to their primary care providers and they have an abnormal protein in their urine, it's very common. A lot of neuropathies, numbness and tingling in the hands or the lower extremities is very common. If there is deposition in the skin, you can have changes in your skin. You can have purpuric changes around your eyes or in your arms or fingers. Also, there could be problems in your blood. If you check a routine blood test, some types of amyloidosis, the problem come from the bone marrow so you can see abnormalities in routine blood tests too. Interviewer: And that's where it all originates, in the bone marrow. Dr. Nativi: For the most common type of amyloidosis . . . let's talk about the most common types of amyloidosis. The most common is called AL amyloidosis. A is for amyloidosis. L is for light chains. That means that the light chains are the proteins that are going into the different tissues. In this type of amyloidosis, the problem is in the bone marrow. You have an abnormal production of this protein that usually is used for your body to fight infections, but it's an overproduction of this protein and then the misfolding of the protein. And because of the bone marrow that is in contact with the blood, the AL amyloidosis will tend to affect several organs because the proteins are just spread out in your body. The other type of amyloidosis is called transthyretin amyloidosis. A Transthyretin is a protein that is normally produced in your liver, however, some people will have genetic mutations of this normal protein, and the genetic mutation will produce the misfolding and the deposition. We called that familial amyloidosis. That is the second one, and then the third type of amyloidosis, there are several types, but these are the ones we are going to focus today. The third type is called senile amyloidosis. It's called senile amyloidosis because it's more prevalent in older adults. And it's a normal transthyretin protein produced in the liver. There's no genetic mutation, but with time and with aging, the protein misfolds and go into deposition to several organs, mainly the heart, lungs, and nervous systems. So, amyloidosis, there are several types, several causes, and several symptoms, so you need a comprehensive team to get together and put this puzzle together. Interviewer: Yeah, and we have a clinic here at University of Utah Health Care which we'll talk about more in-depth in another podcast that brings all those experts together. Which brings the question, do most people have it diagnosed by their physician or are you finding that a lot of people are self-diagnosing it because it is somewhat of a rare but not uncommon disease? I mean, how are people finding out they have it? Dr. Nativi: I agree with you, there's a lot of under-diagnosed amyloidosis. The incidence in the United States is around 3,000 cases. However, as a field, we believe that there are thousands of patients that are not diagnosed. So how the patient goes to a diagnosis of amyloidosis, is a very high index of suspicion from both, from the patient and from their providers. You have this patient that have multiple things going on and usually they go to several providers and each provider will tell them different plans. We're trying to avoid that in our center. And finally, at the end, there is an organ that will really, really be affected and sometimes it's very late and that's where some providers start thinking about doing a biopsy. The diagnosis of amyloidosis requires tissue. This is critical. This is important. This is a very important message. You need tissue of the patient in order to make this diagnosis. So what type of tissue? Several types. The most simple tissue that we can get is fat from the skin of your abdomen. This is a clinical out-patient procedure. You don't need to be admitted to the hospital. We take a sample of your fat of your skin. We send it to the microscope and then we do special staining that is called Congo Red. With the microscope and the Congo Red staining, we can identify the Amyloid proteins and then we can make a diagnosis. And after that, we do the whole comprehensive evaluation to see what organs are affected. Sometimes, patients will require other types of tissues: heart biopsies, kidney biopsies, bone marrow biopsies. But there are several ways and for primary care providers, a good start would be a fat skin simple biopsy as a way to start. Interviewer: As somebody who thinks, "Hmm, I wonder if I have this." Is there something that you could say that would make them go, "Yeah, I think do." Because it sounds like, like you said, you get a lot of frustration with a lot of doctors, you get a lot of different diagnoses, nobody can really figure out what is going on, carpal tunnel operation, how do you finally end up here as a patient as quickly as possible? Dr. Nativi: Yeah, there is several clinical scenarios. Definitely, a patient that has several organs affected at the same time without a clear diagnosis that will be a red flag. Interviewer: Okay. Dr. Nativi: Another red flag that is kind of . . . there are some clinical fissures that are very particular for amyloidosis. An enlarged tongue. This is very particular for amyloidosis. If you notice that your tongue is growing or is increasing or is getting thicker, the majority of the time is related to amyloidosis, the position in the tongue, and is very particular for amyloidosis. So if a patient comes to me with a symptom of tongue enlargement, I will try to rule out amyloidosis first. Another common symptom, it's not that common, but it is very particular for amyloidosis, is for a purpuric change in the skin below your eyes. If your skin below your eyes becomes purple or blue, this is very particular for amyloidosis and I would go to your doctor the sooner the better. Interviewer: All right. No cure just treatments from what I understand at this point. Is that accurate? Dr. Nativi: Well, there has been a lot of progress in amyloidosis. Usually when patients read about amyloidosis, either online or other sources, they get really concerned because the belief is that there is nothing to do for amyloidosis. That's not true, especially in big centers that treat amyloidosis, there's a lot of options. Key messages are for options is the earliest the diagnosis, the more options we have for you. So the less organ involvement, the more options that we have for you. So, for AL amyloidosis, we can offer chemo therapy and even a bone marrow transplantation with very good outcomes with several years of survival. I have a patient with a diagnosis of AL amyloidosis that is more than 20 years with this diagnosis and she went through chemo and she went through several things and she's doing well. For other types of amyloidosis, if it is transthyretin amyloidosis we can offer either liver transplantation because the problem is coming from the liver. If the liver and the heart is affected, we can offer you liver and heart transplantation. If the kidney is affected, we can offer kidney transplantation. And one of the interests of our group too is also clinical trials, research clinical trials. So right now we are enrolling clinical trials of a medication that will avoid the misfolding of the protein . . . Interviewer: The cause. Dr. Nativi: . . . so that you don't have progression of the disease. So the outcomes of amyloidosis are changing a lot and the literature is changing a lot. So I think this is a good time right now for several options and for a better prognosis for these patients. Interviewer: Anything that I forget to ask anything you feel compelled to say? Dr. Nativi: I will say that the earliest that we can make this diagnosis the better. If there is any concerns, if you have several symptoms, several organs affected, and it's unclear the diagnosis, I think it will be reasonable to screen for amyloidosis. 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