ATTR-CM: Awareness and the race to an earlier diagnosis

On World Amyloidosis Day, patients and clinicians take stock of how the transthyretin cardiac amyloidosis (ATTR-CM) landscape has changed, and what it will take to ensure every patient gets a timely diagnosis.

For years, David, a retired nurse from Philadelphia, struggled with a series of seemingly disconnected health problems.

He experienced carpal tunnel syndrome, joint problems, and fluid retention in his legs. He also dealt with lung issues and repeated hospital visits for pneumonia. None of those symptoms initially pointed to a single explanation.

Then, in 2024, he was diagnosed with atrial fibrillation.

Now under the care of a cardiologist, David discussed his broader medical history with his care team. A second cardiologist in the practice suspected transthyretin cardiac amyloidosis, or ATTR-CM — a serious and progressive condition — and recommended further testing. A type of imaging test, called a PYP scan, ultimately confirmed the diagnosis.

“For years, I was dealing with different health problems and never thought they might be connected,” David says. “It wasn’t until my cardiologist looked at the bigger picture that ATTR-CM came into the conversation.”

David’s experience illustrates one of the challenges of ATTR-CM. Potential clues can emerge years apart, across the heart and in other parts of the body, making the disease difficult to recognize.

ATTR-CM is an underdiagnosed heart condition caused by the buildup of misfolded transthyretin proteins in the heart. Over time, that buildup can make it harder for the heart to function properly. Because its signs can resemble more common conditions or be attributed to getting older, patients may spend years searching for answers before receiving a diagnosis.

Today, researchers and clinicians know far more about ATTR-CM than they did a decade ago. Advances in cardiac imaging, including scintigraphy such as a PYP scan, have made non-invasive diagnosis possible for many patients with suspected ATTR-CM, while growing awareness among cardiologists and more established referral pathways have helped more patients reach a diagnosis sooner. The availability of disease-modifying treatments that slow the progression of the disease has also changed what may be possible for people living with ATTR-CM.

In her work in rare cardiology, Pfizer US Rare Cardiology Medical Lead Lori Baylor has seen firsthand how much the field has evolved.

“When I think about what we understood about ATTR-CM years ago compared with what we know today, we’ve learned a tremendous amount,” Baylor says. “We know more about what to look for, who may be affected, and how to identify the disease. Now, the urgency is to put that knowledge into practice, identify patients who may be at risk, and shorten the path to diagnosis.”

When the clues don’t add up

Despite increased awareness and improved tools for diagnosis, ATTR-CM continues to be underdiagnosed and misdiagnosed, and its true prevalence is not fully understood. Nearly half of patients are initially diagnosed with another heart condition before ATTR-CM is identified. These early misdiagnoses can send patients through multiple appointments with different specialists, long wait times, and potentially unnecessary tests before the true underlying cause is found.

For clinicians, one of the core challenges is that potential clues may surface years apart and across multiple specialties. Together, cardiologists, neurologists, and other clinicians have established “red flag” symptoms of ATTR-CM that should prompt further investigation — among them, shortness of breath, atrial fibrillation, carpal tunnel syndrome, fatigue, and swelling in the hands and feet.

For Dr. Mathew Maurer*, a geriatric cardiologist and heart failure specialist, the path to an earlier diagnosis often begins with symptoms that extend well beyond the heart.

“Patients who suspect they may have ATTR-CM should prompt their clinician to consider ATTR-CM and determine whether an appropriate workup is needed,” Maurer says. “Those who are diagnosed early, with limited heart involvement, can do well with disease-modifying therapy.”

The work still ahead

Today, the focus is shifting toward helping more patients reach an accurate diagnosis earlier in the course of the illness, when patients can derive the greatest benefit from treatment.

ATTR-CM is better understood than ever before, but scientific progress only matters if it reaches the patients who need it. Helping more people receive a timely diagnosis is essential to turning decades of research into meaningful care.

David’s long journey to diagnosis is a reminder that even as understanding of ATTR-CM continues to advance, many patients are still searching for answers. If you or a loved one are experiencing unexplained symptoms that don’t seem to add up, don’t dismiss them. Speak with a doctor or cardiologist. To learn more about ATTR-CM and its warning signs, visit Pfizer For All.

*Dr. Mathew Maurer is not David’s treating physician.

References

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4. Kittleson MM, Ambardekar AV, Cheng RK, et al. Transthyretin Cardiac Amyloidosis Evaluation and Management: 2025 ACC Concise Clinical Guidance. JACC. 2026;87(5):549–565. doi:10.1016/j.jacc.2025.09.004.

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6. Rozenbaum MH, Large S, Bhambri R, et al. Impact of Delayed Diagnosis and Misdiagnosis for Patients With Transthyretin Amyloid Cardiomyopathy (ATTR-CM): A Targeted Literature Review. Cardiol Ther. 2021;10(1):141–159. doi:10.1007/s40119-021-00219-5.