Rene Alvarez, MD, Vice Chief, Section of Cardiology at Temple University Hospital explains cardiac amyloidosis and a life-saving treatment option for this condition.
Interview conducted by Ivanhoe Broadcast News in May 2017.
If you could give us just sort of the thumbnail sketch of the condition that Frank has and how it manifests in the human body?
Dr. Alvarez: Cardiac Amyloidosis is a condition that affects many folks in the United States and around the world. It’s not that rare and I think that’s one of the important things of raising awareness. Patients who have heart failure and have thick hearts, for example, you should think of amyloid especially in the African American population where perhaps up to 70 percent of that population may have cardiac amyloid. And amyloid is a heterogeneous type of disease. There are multiple types of proteins or amyloid proteins that are made by the body normally. Sometimes genetic mutations in these cells produce these proteins at very high levels. These proteins come together and they fold in a way that is abnormal and they deposit themselves in various organs, the heart being one of them, the kidney, nerves, the peripheral nerves, and the brain. In fact amyloid proteins are involved in the process of dementia. As we progress in dementia more amyloid proteins are deposited in the brain. When they’re deposited they affect the normal cells. Then the normal cells of that organ don’t work normally. Many of them die off and are replaced by scar tissue so the organs begin to fail. In our patient’s case, he had amyloid deposition not only in his heart but his peripheral nerves. He developed heart failure and refractory heart failure where it was very difficult for him to have any quality of life. He was in and out of the hospital, he was very short of breath, couldn’t walk fifty feet. The prognosis of those patients once they develop heart failure from cardiac amyloid is very, very poor. The one year survival is at best maybe 30-40 percent in those patients. Transplantation in some highly selected patients is a viable option. For example, patients that do not have extensive deposition of these proteins in other organs, heart transplantation can be a lifesaving intervention for many of those folks.
Are these proteins preprogrammed genetically to form or what makes them start forming and going in to overdrive?
Dr. Alvarez: There are genetic mutations in the genes that produce these proteins. For example, there’s a form of amyloid that is made by the liver and certain folks have a genetic mutation in the amino acid sequence of the protein that allows it to fold abnormally. There is a form of amyloid that is a hematologic, where these cells make an excessive amount of these proteins and then come together. Since there are so much of them, they fold abnormally and the body can’t get rid of them so they deposit in the cells and organs.
Without a transplant in his case would it have just gotten worse and that’s sort of it? What happens there if you can’t transplant?
Dr. Alvarez: Yes. Patients who are not transplant candidates, because this type of amyloid is a progressive and lethal process. Most patients will continue to feel poorly, short of breath, heart failure symptoms and in and out of the hospital and eventually will succumb to that disease process.
What kind of a difference did you see in Frank before and after the transplant?
Dr. Alvarez: Well I think the most important difference is mentally. I knew he had death sentence, he was dying and he got the gift of life. The gift of life was a heart transplant and you can see him now he’s smiling and he’s working every day. He can walk, take his kid to school, and go up and down the steps, all things that we take for granted. Many patients with heart failure, especially patients with cardiac amyloid, cannot do these things because they’re limited due to heart failure, and the inability of that heart to get enough blood to the rest of the body to perform normally.
What about somebody at home listening to this what would they look for to see if they have this or how would they know what to ask their physician?
Dr. Alvarez: I think patients who have heart failure in general should ask their physicians, and what is the cause of my heart failure. If patients, especially those who have thick heart, have been told that their hearts are thick or patients that are at increased risk like the African American population and Latino population, they should have that conversation with their doctors and ask, do you think I have amyloid and if not why? Ask the question do you think it could be amyloid, or could it be other causes. I think it’s important to have that conversation with their doctor. What is the cause of my heart failure?
Is it race specific, you mentioned African American and the Latino population?
Dr. Alvarez: So there are racial and gender differences in terms of the incidence and prevalence of amyloid in different types of amyloid. This type of amyloid that my patient has is a little bit more prevalent in the African American population, but its present in the Caucasian population also. It’s something that is present, it’s not that rare and I think raising awareness becomes important especially when you’re dealing with folks who have refractory symptoms of heart failure.
What’s Frank’s prognosis now that he’s had his transplant?
Dr. Alvarez: Well I think his prognosis now is excellent. I think if you look at the US experience in terms of transplantation in this country the median survival now is up to 13 years. More than 50 percent of folks are alive 13 years after their heart transplant. I think his prognosis is excellent.
END OF INTERVIEW
This information is intended for additional research purposes only. It is not to be used as a prescription or advice from Ivanhoe Broadcast News, Inc. or any medical professional interviewed. Ivanhoe Broadcast News, Inc. assumes no responsibility for the depth or accuracy of physician statements. Procedures or medicines apply to different people and medical factors; always consult your physician on medical matters.
If you would like more information, please contact:
Jennifer Lee
Sign up for a free weekly e-mail on Medical Breakthroughs called First to Know by clicking here.
