For women living with ATTR-Cardiac Amyloidosis (ATTR-CM), a serious heart disease that worsens over time, the path to diagnosis is rarely straightforward. Symptoms like breathlessness, fatigue, and swelling in the legs and feet are often attributed to stress, menopause, or aging, and for women with ATTR-CM, that delay in recognition can mean the difference between early treatment and a life-altering outcome.
This Women’s Health Month, BlackDoctor, in collaboration with HealthyWomen and BridgeBio Pharma, Inc., is drawing attention to a growing, but often overlooked issue in women’s health: ATTR-CM is not just underdiagnosed, it is systematically missed in women.
BlackDoctor, in collaboration with HealthyWomen and BridgeBio Pharma, Inc. conducted a survey with more than 1,000 respondents. The survey findings reveal that despite strong interest in understanding heart health risks, most Black women have never heard of ATTR-CM, and almost none have ever been screened for it.
Its findings point to a major knowledge gap:
At the same time, the survey showed a strong desire for education and support:
The findings underscore that Black women are highly engaged and actively seeking information, tools, and support to better understand and advocate for their health and the people they love.
ATTR-CM is a disease of the heart muscle caused by a buildup of misfolded protein in the walls of the heart. The condition occurs when transthyretin (TTR), an important protein responsible for transporting thyroid hormone and vitamin A, becomes unstable, breaks apart, and accumulates as amyloid fibrils in the heart muscle. Over time, ATTR-CM reduces the heart’s ability to pump blood properly and can ultimately lead to heart failure if left untreated.
There are two forms of ATTR-CM: hereditary ATTR-CM, which is caused by a genetic variant passed through families, and wild-type ATTR-CM, which can develop with aging. Both forms can affect women, yet both remain dramatically underrecognized in women. About 1 in 25 Black Americans carries the V122I gene variant associated with hereditary ATTR-CM, increasing risk for the disease.
Historically, ATTR-CM has been viewed as a disease affecting older men. However, emerging science tells a different story. Data from the SCAN-MP study published in The American Journal of Cardiology found that when active screening was applied to Black and Caribbean Hispanic patients, women represented 31% of those diagnosed with ATTR-CM. Additional real-world data presented at the American Heart Association 2025 found that 30% of ATTR-CM patients were Black, and that women were less likely to initiate treatment. In addition, Black women experienced the poorest clinical outcomes, including a higher risk of cardiovascular-related hospitalization or death.
Recognition of the disease can be particularly difficult because symptoms often overlap with aging, menopause, or other common conditions. Women with ATTR-CM may experience fatigue, shortness of breath, swelling in the legs, irregular or fast heartbeat, gastrointestinal issues, such as bloating, and carpal tunnel syndrome. Amyloid fibril buildup in the nervous system can also lead to numbness or tingling in the hands and feet, nerve pain, and spinal stenosis.
Beyond their own risk, women often play a critical role as care partners and healthcare decision-makers for their families. According to the U.S. Department of Labor, confirmed by the American Heart Association in 2024, women make approximately 80% of healthcare decisions for their families. Increasing awareness of ATTR-CM among women can help improve recognition and to equip them to speak not only for themselves, but also for parents, partners, and loved ones.
“This Women’s Health Month, we reaffirm our commitment to closing the health literacy gap that continues to delay diagnosis and care for serious conditions like ATTR-CM,” said Kristin Vaughan, Chief Content Officer at BlackDoctor. “By delivering trusted, culturally-relevant information directly to the people in our audience who need to hear it most, we aim to empower more Black women to understand their risk, ask better questions, and ultimately be diagnosed earlier, when intervention can make the greatest difference.”
Beth Battaglino, RN, CEO of HealthyWomen, emphasized the importance of awareness and family history. “When women understand their symptoms, family history, and potential genetic risk for conditions like ATTR-CM, even when those symptoms look like aging or menopause, they are empowered to change not only their own health outcomes, but the trajectory of their families’ health,” she said.
Uma Sinha, Ph.D., Chief Scientific Officer of BridgeBio, noted that women have too often been overlooked in conversations about ATTR-CM. “Women are not exempt from this disease. They are living with it, often without knowing it, and they are suffering the consequences of delayed diagnosis and undertreated disease,” she said. “Early recognition is critical, and we cannot leave women behind in this fight.”
Although ATTR-CM cannot be cured, treatment options are available to help slow disease progression and manage symptoms. Current approaches include TTR stabilizers and TTR knockdowns, while lifestyle changes, such as eating a heart-healthy diet, monitoring sodium intake, exercising daily when possible, and limiting alcohol may also help support overall health.
To diagnose ATTR-CM, healthcare providers use symptoms, imaging, and diagnostic testing. Genetic testing can determine whether the condition is hereditary. Experts stress that earlier diagnosis and treatment may lead to better health outcomes.
Advocates say the path forward is clear:
For women experiencing unexplained fatigue, swelling, or shortness of breath, especially those with a family history of heart disease, experts encourage asking healthcare providers a direct question: “Could this be ATTR cardiac amyloidosis, or ATTR-CM?” In addition, ask your healthcare provider about your genetic risk for ATTR-CM. Early recognition, diagnosis and treatment are key to improving outcomes.
To learn more about ATTR-CM and a prescription treatment option for this condition, talk to your healthcare provider and visit www.aboutttr.com or click here to watch a webinar brought to you by BlackDoctor and BridgeBio.
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