Martha Grogan, M.D., Cardiovascular Medicine, Mayo Clinic: Hi. I'm Doctor Martha Grogan. I'm a cardiologist at the Mayo Clinic, and I'd like to discuss with you the treatment options for patients who have cardiac amyloidosis. In previous segments, we talked about the diagnosis and what amyloid really is, and now we'll talk about the treatment options.
So the most important thing for you to know is really pretty simple. The treatment for cardiac amyloidosis depends completely on which type you have, and in order to establish a diagnosis of amyloid you must first have what we call a tissue biopsy. So, some part of your body has been sampled and found to have amyloid deposits. That can either be from the fat or the bone marrow, the kidney or the heart, or other parts of your body. And once that's been stained and found to have amyloid, then we need to know particularly what type is it? What type of protein is making up the abnormal amyloid deposits? Pathologists use a technique called mass spectrometry to determine the type of amyloid that you have, and it's very important to make sure that your specimen has been examined by someone who's very expert in this technique.
We unfortunately don't have a specific treatment for cardiac amyloidosis, so we don't have a medication that will take the amyloid out of the heart. The most important part of treatment is to treat the underlying protein problem, so we want to either stop the abnormal protein from being produced, or stabilize the protein so that it doesn't do that misfolding that we talked about and deposit within the various organs, particularly the heart.
So for the AL type of amyloid — remember, that one is called light chain, or immunoglobulin-associated amyloidosis — the hematologist is going to be certainly the complete key to your treatment, and a hematologist who's an expert in this area will tell you whether or not you're a candidate for chemotherapy, whether or not you might have a procedure called autologous stem cell transplantation, or whether there are new or experimental medications that might be used to treat the AL type of amyloid. And that's the best way to try to stabilize the heart function.
For the TTR — that’s the transthyretin type of amyloid — if you have the hereditary form, then the problem is that your liver is making an abnormal protein. And liver transplant is an option for some patients with hereditary amyloidosis, and there are soon going to be a variety of different, new medications that will help try to stabilize that protein or even prevent it from being formed.
Now the wild type, or previously called senile type of amyloidosis, we don't have specific treatment for that just yet, but the same type of medications that are being used for familial amyloidosis to stabilize the protein are hopefully going to be available very soon as part of clinical trials to try to stop the process of amyloid deposition in patients with this wild type.
Now for any type of amyloid, one of our mainstays of treatment from a cardiology perspective is to try to get rid of excess fluid. When your heart is stiff because of amyloidosis, it’s hard for your heart to fill and pressure builds up in your heart. And eventually that pressure and fluid leaks out into your lungs, and then into your leg, sometimes into your abdomen. So diuretics are an important treatment option and we need to find out the best diuretic for you and the right dose for you.
There are certain medications that we use for other types of heart failure that we have to avoid, particularly in the AL type of amyloid. And heart transplant, you might wonder about, well could I just get a new heart? It's occasionally done in some very selected patients. Usually patients who don't have a lot of problems with amyloid deposits elsewhere in their body. So in the AL type of amyloid, it has to be primarily localized to the heart, and it has to be a young patient who's otherwise doing well, and the patient will still need to get treatment for the underlying disorder. For the other types of amyloid, the familial and the wild type or senile amyloid, heart transplant is a potential option, particularly if the patient is identified at an age when transplantation still might be an option.
We also have something called a ventricular assist device so we have artificial heart pumps that can support the heart, and those can be used whether a person is waiting for a heart transplant but now we even use them for patients who aren't ever even going to have a heart transplant. So, they are a controversial option, and it depends on the patient, but occasionally we are able to use these pumps, and they are improving and we probably will have better options over time.
The other question that, of course, patients and their family really want to know about is what's the prognosis? What's my outlook with this condition of cardiac amyloidosis? Well again, just as the treatment depends completely on the type, the prognosis depends completely on which type of amyloid you have.
Patients who have the AL type of amyloid affecting the heart do have the worst prognosis, and in fact, for those patients, if they start to get heart failure symptoms, severe shortness of breath and fluid building up, a person generally will deteriorate quite rapidly unless they receive effective treatment. So the prognosis is quite poor unless the treatment can stop the process.
For the TTR types of amyloid, whether it's for the TTR types of amyloid, whether it's the hereditary or the wild type, the progression there is much more slow. So the amyloid deposits build up much more slowly, and that allows the heart and the body to adapt to some degree. So they're very different, and if you have familial TTR, the hereditary type, your clinical course, or how you will do, often depends on what mutation you have.
For the senile type of amyloid, or again, the wild type, patients may have this condition for many, many years. And so it's very important for you to realize that, if you have the TTR type of amyloid, particularly if you have that wild type or senile, really you shouldn't read about the AL type of amyloid, because it's truly a different disease, and vice versa. So that's important to recognize. And because this is still a rare disease, unfortunately, a lot of doctors don't know too much about it, because they just haven't seen patients with this condition. It’s important for you to make sure that you are seen by individuals who really understand amyloid.
So in summary, amyloid is a disease of abnormal proteins that deposit in your organs and cause dysfunction. The heart is very commonly involved. It becomes very stiff from amyloid deposition, but the treatment is to treat the underlying problem. And there are three main types of amyloid that affect your heart, and the type that you have completely determines what kind of treatment options you have and what your outlook might be. And although this is a very serious and frustrating disease, treatment options are really rapidly expanding, and there are now treatments being developed for all different types of amyloid that affect the heart. So I hope this information is of some use to you. If you're interested in more information or obtaining an appointment, that could be found at mayoclinic.org.