RARE Daily

How One Drugmaker Reaches out to Communities at Greater Risk for Rare Heart Condition

June 24, 2022

Transthyretin amyloid cardiomyopathy, or ATTR-CM, is a progressive and potentially fatal heart disease. It is often overlooked because physicians tend to consider more common causes of heart failure. We spoke to Pfizer Vice President and North America Medical Lead Younos Abdulsattar and Pfizer Chief Medical Officer of Rare Disease Sonal Bhatia, about ATTR-CM; its disproportionate impact on the Black, African American, and Afro-Caribbean communities; and steps Pfizer is taking to work with community organizations to raise awareness and improve care for people with the condition.

Daniel Levine: Younos, Sonal—thanks for joining us.

Younos Abdulsattar: Thank you for having us.

Daniel Levine: We’re going to talk about the rare heart condition ATTR-CM, it’s disproportionate burden on the African American community, and Pfizer’s efforts to raise awareness about the condition through its Voice for the Heart initiative. Sonal, perhaps you can begin by explaining what ATTR-CM is.

Sonal Bhatia: Well, thank you. ATTR-CM, or transthyretin amyloid cardiomyopathy, is an underdiagnosed, progressive, and potentially fatal disease of the heart muscle. So ATTR-CM is a type of amyloidosis that causes heart failure and cardiomyopathy by the simple buildup of transthyretin amyloid in the heart. And actually there are two types of ATTR cardiomyopathy. There’s the wild type ATTR cardiomyopathy and hereditary ATTR cardiomyopathy. Now the wild-type ATT cardiomyopathy may be the most common type of ATTR-CM and most commonly affects Caucasian men over the age of 60, whereas hereditary ATTR-CM is the type most likely to affect the blacks, African Americans, and Afro Caribbean communities. And it is caused by a change or a mutation in the genes that get passed down through relatives. This hereditary disease affects both men and women, and the symptoms can show up as early as in their 50s to 60 years old.

Daniel Levine: How does the disease manifest itself and progress?

Younos Abdulsattar: Hereditary ATTR-CM is a genetic disease that can be passed down through relatives that disproportionately affects Black, African American, and Afro-Caribbean communities more than any other groups. A good way to imagine how the disease manifests itself, is if you imaging your body as a factory composed of many systems working together to maintain your health. Now, your liver is just one part of that system, but it carries out many, many important jobs that can affect your entire body, including the heart. The liver makes a protein called transthyretin, or TTR for short. The primary purpose of this protein is to carry specific hormones and vitamins to various places throughout the body. When someone has ATTR-CM the TTR protein becomes unstable and it misfolds. Normally the transthyretin protein is shaped like a four-leaf clover. In ATTR-CM the four-leaf clover separates into individual components, four individual components. Over time, the misfolded proteins aggregate together forming what is known as amyloid. To me, amyloid is like the twizzle-like shape of multiple single units combining. So, you go from a four-leaf clover or TTR to individual components, or monomers, to this twizzler-like shape of what’s known as amyloid. This amyloid can deposit in many parts of the body, and with ATTR-CM that deposit occurs in the heart. This causes the heart muscle to become thick and stiff, eventually leading to not only ATTR-CM, but also heart failure.

Daniel Levine: How difficult is it to diagnose the condition and can it be confused with other types of cardiovascular problems?

Sonal Bhatia: It can be very difficult to diagnose, especially if you’re not aware of the red flags of ATTR cardiomyopathy. In fact, it can take several years and visits to many different doctors before a diagnosis is made. It is often overlooked because when most healthcare practitioners think about the causes of heart failure, the first causes that come to mind are heart attacks and high blood pressure, which are both more common than ATTR cardiomyopathy. Another reason for missing ATTR cardiomyopathy may be that the signs can appear unrelated to heart failure. This is because the amyloid that develops that was mentioned earlier can deposit in places outside of the heart. So the most common symptom is known as bilateral carpal tunnel syndrome or numbness, tingling, or pain in the fingers, and less common symptoms could include eye disorders, such as glaucoma, and pain or numbness in the lower back or legs from narrowing of the spine, something called lumbar spinal stenosis.

Daniel Levine: This is a genetic disease and one that disproportionately affects the black African American and Afro Caribbean communities. What’s known about the prevalence of the condition and how it impacts these communities relative to other populations?

Younos Abdulsattar: So, a few things. First, black, African American, and Afro-Caribbean communities get heart disease more than other ethnic and racial groups. Now, according to a 2020 report from the American Heart Association, more than half, about 57 to 60 percent of black men and women aged 20 years or older had some form of heart disease from 2013 to 2016. In addition, according to a review published in 2019, African Americans have a 50 percent higher chance of getting heart failure compared to the general population. Another way to think about this is that African Americans are 1.5 times more likely to have heart failure than the general population. Now, as mentioned earlier, hereditary ATTR-CM, which is the type most likely to affect the black African American and Afro Caribbean communities is caused by a change or a mutation in your genes that get passed down through relatives. So, this hereditary disease affects both men and women, and the symptoms can show up as early as 50 to 60 years of age.

A number of different gene changes or mutations can lead to hereditary ATTR-CM. Now the most common mutation that can lead to hereditary ATTR-CM in the U.S. is called the V122i mutation. The V122i mutation is found almost entirely in African Americans. About 3 to 4 percent of African Americans have this mutation, but not everyone who carries the mutation will have the symptoms of hereditary ATTR-CM. We don’t know specifically what percentage of people with the V122i mutation will end up having symptoms of ATTR-CM. But what we do know is that people with this mutation are much more likely to have ATTR-CM compared to patients that don’t have that mutation.


Daniel Levine: It’s an interesting problem because when you think of the population that’s most at risk of ATTR-CM, it’s also a population that has greater challenges with access to medical care. There’s also a history of distrust in these communities with regards to the medical establishment. How did Pfizer think through these issues in fashioning an approach?

Sonal Bhatia: At Pfizer, we recognized the importance of building trust with relationships in the communities. And so, to initiate a conversation on the best ways to serve the communities, we first need to join discussions with these trusted community organizations to listen to their concerns and needs. And once we do this, we need to stay and build sustainable relationships. This is how we start to build trust more specifically for each community event. We are investing in local promotion within the black community, focusing on black-owned radio stations to promote each event. We’re also partnering with local community leaders, black medical schools, and health systems to promote these events before and during the launch of Voices for the Heart program. We spent a lot of time listening to understand what the healthcare practitioners and the community organizations needed. And this is an ongoing process because each community has different needs and we learn and adapt as we go into a different market. So we may not be able to address every need, but we certainly want to focus on the idea that we hear and see each person and organization.

Daniel Levine: So, I’ll just mention the Voices for the Heart initiative. What exactly is that initiative and what does it seek to do?

Younos Abdulsattar: You know, I’m really, really excited about this initiative, the Voices for the Heart, because it’s a program that is dedicated to raising awareness of ATTR-CM across the black, African American and Afro Caribbean community. As part of this program, what we’re doing at Pfizer is teaming up with the trusted groups in the community that Sonal alluded to, to focus on two things: one, to explain the warning signs of ATTR-CM; and two, to help people who might have ATTR-CM find ways to talk to their doctor about it.

Daniel Levine: How does it work?

Sonal Bhatia: Well, that’s a great question because as exciting as Voices for the Heart initiative is, it’s how we do it. So, we’re identifying community organizations across 16 cities in the U.S. to conduct community outreach events. And each event is going to have a local healthcare practitioner, a local moderator, and a local patient. During the event, the healthcare practitioner presents the disease information. The moderator will conduct live polls and questions from the audience for the healthcare practitioner to answer, and then the patient will provide insights in their experience with the disease.

Daniel Levine: Well, what’s been the effect of the program so far?

Younos Abdulsattar: I must say it’s been extremely, extremely successful to date. Ninety-nine percent of attendees that we’ve polled recommended this event to a family or friend; 99 percent also will share this information with their family and friends. And this is really just a starting point. We’ve mentioned 16 virtual events. We have a plan for a lot more in the future, and we hope to kind of build on the early successes we’ve seen so far.

Daniel Levine: Were there challenges you needed to overcome, and if so, what have you done to address them?

Sonal Bhatia: Yes, we definitely had challenges, but we are focused on converting those challenges into opportunities. Early on, we had difficulties getting organizations to work with us. We started small and with every event that we completed, we began to build a reputation for being a partner and slowly over time, organizations began to share their experiences with other organizations through sharing their voices and their experiences. And although we’re still working through these challenges, we have seen a shift of willingness to actually work with Pfizer for the 16 events that Younos mentioned so far. Each event was led by an organization that actually never worked with Pfizer before.

Daniel Levine: Pfizer has some experience working with minority communities around rare diseases. In 2017, it launched an effort with the National Newspaper Publishers Association, a trade association of African American owned community newspapers. This was to raise awareness about sickle cell disease. I’m wondering, what have you learned from earlier efforts like this one, and are you applying those learnings in any way?

Younos Abdulsattar: Yes, absolutely. As you mentioned, this is something that is very close to us and really important to us. And we try to ensure that we do this across multiple therapeutic areas that we support. So we are actively working with an NNPA to help publish either local KOL or community organization op-eds to increase awareness of hereditary ATTR-CM and to really promote the upcoming event in the local markets. We also know the importance of working with local HCPs and local community organizations to really mirror the communities we are trying to reach. So what we’ve learned from these partnerships is the importance of sustainability, meaning we need to continue our outreach to the organizations and community leaders to really show that we are serious about improving inequities in healthcare and building on the early successes and the learnings to date.

Daniel Levine: Younos Abdulsattar, vice president, North American medical lead at Pfizer Rare Disease, and Sonal Bhatia, chief medical officer of Pfizer Rare Disease. Younos, Sonal, thanks so much for your time today.

Younos Abdulsattar and Sonal Bhatia: Thank you. Thank you.

This transcript has been edited for clarity and readability.

Stay Connected

Sign up for updates straight to your inbox.