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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.

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Dr. Jose Nativi is a Cardiovascular Director of the Amyloidosis Program at Ï㽶ÊÓƵ 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 Ï㽶ÊÓƵ 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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