For a disease that can be difficult to recognize, transthyretin amyloid cardiomyopathy (ATTR-CM) carries an especially important warning for Black Americans: a genetic mutation associated with hereditary ATTR is relatively common in people of African ancestry.
That was the focus of a recent town hall meeting for Hip Hop Public Health (HHPH), which addresses various health conditions affecting the Black community, specifically Black men.
HHPH uses the power of music, hip hop culture, and science to make potentially life-saving health information more accessible and culturally relevant, particularly in underserved communities. Founded by Columbia University neurologist Dr. Olajide Williams and hip-hop pioneer Doug E. Fresh, the organization grew out of their recognition that traditional health messaging was not always reaching the communities that needed it most.
ATTP affects many Black men, who may brush it off as signs of aging. According to cardiologist Dr. Albert Hicks, about 1 in 25 Black Americans may carry the genetic mutation associated with hereditary ATTR.
“That is not a small number when you think of how many Black people actually live on this continent,” Dr. Hicks says. “You go to a room where there are 200 of us, and eight or 10 people may have this condition.”
ATTR-CM occurs when transthyretin, a protein made primarily in the liver, becomes unstable and forms amyloid deposits in the heart. Over time, those deposits can make the heart muscle stiff and interfere with its ability to pump effectively. Symptoms can be subtle or resemble other conditions, making the disease easy to miss. That delay matters.
“If you diagnose it properly, and the faster you diagnose it, the longer you can live, especially with the treatments we have now for it,” Dr. Hicks says.
Shortness of breath, fatigue, swelling, and reduced exercise tolerance can all occur with ATTR-CM. Some patients may also have a history of carpal tunnel syndrome or other clues that, in retrospect, can point toward the disease.
Dr. Williams, founder and board chair of Hip Hop Public Health, says people should pay attention when their everyday physical abilities change.
“It’s critically important to recognize these symptoms, know our bodies,” Dr. Williams says. “If you’ve been climbing up the stairs every day for the last 20 years, and you now can’t do it, that’s a problem. If you’ve been sleeping flat every day for the last 20 years, and you now need three pillows, that’s a problem.”
Rather than accepting those changes as a new normal, Williams encourages people to get evaluated.
“It’s critically important for us to get checked,” he says. “We shouldn’t look at symptoms as my symptoms, or my risk. I think it’s even more important now to look at it as our symptoms and our risk.”
RELATED: 5 Key Challenges Facing Black Folks with ATTR-CM
The mutation is inherited in an autosomal dominant pattern, meaning a person who carries the variant has a 50 percent chance of passing it to each child. That makes a diagnosis potentially relevant to an entire family, not just the patient.
“If you have a genetic version of it, there’s a 50 percent chance one of your first-degree relatives can also have this genetic condition,” Dr. Hicks says.
For a large family, that can mean dozens of relatives potentially need to learn about their risk.
Black Americans could benefit from genetic testing, but they may encounter roadblocks. Or they simply don’t see the significance.
“Our rates of genetic testing are the lowest in the country,” Dr. Hicks says, pointing to factors including lack of awareness and low referral rates.
He also points to longstanding disparities in cardiovascular care.
“If you’re Black and you have heart failure, you’re less likely to be referred to see a cardiologist,” Dr. Hicks says. “This is not my conjecture. This is data that we’ve collected over years.”
Those disparities are particularly concerning because cardiovascular disease already takes a disproportionate toll on Black Americans.
“When talking about ATTR cardiac amyloidosis, it’s a very serious heart condition,” Dr. Hicks says. “Cardiovascular disease is the number one cause of death, but heart failure is by far the deadliest version of cardiovascular disease.
RELATED: Understanding ATTR-CM: A Powerful Discussion
That question is now being investigated in ACT-EARLY, a Phase 3 clinical trial designed to determine whether treatment can prevent or delay ATTR-related disease in people who carry a pathogenic TTR variant but don’t yet have clinical manifestations of ATTR. The trial is currently recruiting.
The premise of the trial is significant: A person can test positive for the genetic mutation while having no detectable amyloid-related heart disease. Researchers want to know whether treating that person before symptoms and cardiac damage develop could change the course of the disease.
ACT-EARLY is essentially comparing the current approach — monitoring genetically at-risk people and waiting for evidence of disease — with starting treatment earlier to determine whether doing so can prevent or delay ATTR.
The trial could help answer a question doctors currently don’t have enough evidence to answer: If someone has the mutation but isn’t sick yet, should treatment start before the heart becomes involved?
For Dr. Hicks, trials like these also highlight another issue: Who gets represented in the research that determines the future of medicine?
“There are clinical trials in amyloid that are actively trying to recruit certain percentages of Black patients,” he says, noting the importance of studying therapies in populations that experience the disease.
Historically, Black Americans have been underrepresented in cardiovascular clinical trials despite experiencing a disproportionate burden of cardiovascular disease.
“We represent a much higher percentage, more than triple or quadruple the amount of disease burden than the representation in the trials,” Dr. Hicks says.
For a condition with a genetic variant that disproportionately affects people of African ancestry, that representation may be especially important.
Communicating and sharing our health experiences can save someone’s life, and equally important is participating in clinical trials for heart conditions like ATTP. Participation in trials can help Black men understand and outsmart a complicated diagnosis.
The promise of these trials isn’t simply a new drug or technology. It’s the possibility of changing when ATTR is recognized, when treatment begins — and ultimately, whether a genetic risk has to become a life-threatening heart condition at all.
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