October 26 marks World Amyloidosis Day, an international awareness effort focused on a rare disease that can damage vital organs, resemble more common health conditions and remain undiagnosed for years. For communities facing barriers to specialty care, the day also underscores a broader health access challenge: ensuring that patients have the information, diagnostic resources and access to treatment needed to recognize serious conditions before irreversible damage occurs.

Amyloidosis develops when abnormal proteins, called amyloid, accumulate in the body’s tissues and organs, interfering with their normal function. More than 30 types of the disease have been identified, according to the Amyloidosis Alliance, and symptoms vary depending on the type of protein involved and the organs affected. The condition can affect the heart, kidneys, nerves and digestive system, making it difficult to recognize without appropriate testing and clinical evaluation. The Amyloidosis Alliance identifies delayed diagnosis as a major challenge for patients, noting that the average time to diagnosis can reach four years. During that period, symptoms may be attributed to more familiar conditions, potentially delaying access to treatments that can slow disease progression or help manage complications. World Amyloidosis Day, observed each year on October 26, aims to increase public and medical awareness and encourage earlier diagnosis.

One form receiving particular attention in cardiovascular care is transthyretin amyloid cardiomyopathy, commonly known as ATTR-CM. It occurs when transthyretin proteins form amyloid deposits in the heart muscle, making it harder for the heart to function properly. The condition can lead to heart failure and may be mistaken for other causes of thickened heart muscle or worsening heart function. ATTR-CM can occur in two principal forms. In hereditary ATTR-CM, a genetic variant contributes to the production of abnormal transthyretin protein. In wild-type ATTR-CM, the protein accumulates without the inherited variant and the condition is more commonly identified in older adults. Although both forms can cause serious illness, distinguishing between them is important because diagnosis, family risk assessment and treatment decisions may differ.

Symptoms can include shortness of breath, fatigue, swelling in the legs or ankles, an irregular heartbeat and difficulty tolerating physical activity. Some patients may also experience numbness or tingling in the hands and feet. These symptoms are not unique to amyloidosis and can occur with many other conditions, so they do not establish a diagnosis on their own. However, persistent or unexplained symptoms, particularly when accompanied by a history of heart failure or a family history of hereditary amyloidosis, may warrant further discussion with a healthcare professional. The disease’s impact also raises important questions about racial disparities in cardiovascular health. Research has identified a transthyretin gene variant known as Val122Ile, now commonly described as Val142Ile under updated protein numbering, that is found disproportionately among people with African ancestry. The variant increases the risk of hereditary ATTR-CM, although carrying it does not mean a person will necessarily develop symptomatic disease.

A 2023 analysis from the Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations (SCAN-MP) study examined older Black adults with heart failure and increased thickness of the heart’s left ventricular wall. Among the first 278 Black participants analyzed, researchers found ATTR-CM in 6.8% of participants. The findings, published in the Journal of the American Heart Association, illustrate why clinicians should consider amyloidosis in appropriate patients rather than assuming that heart failure has a more common cause. The researchers also emphasized that genetic status alone is not enough to establish a diagnosis. These findings do not mean that every Black patient with heart failure has amyloidosis, nor that race alone should determine who receives testing. Instead, they support greater awareness of relevant risk factors, careful evaluation of symptoms and appropriate diagnostic assessment when clinical findings suggest the disease.

For patients, reaching the right diagnosis can require specialized imaging, laboratory testing and, in some cases, genetic testing or tissue biopsy. Access to clinicians familiar with amyloidosis and to centers equipped to evaluate the disease can be important. When patients encounter fragmented care, limited specialist availability or difficulty navigating referrals, the path to diagnosis may become more complicated. These broader access concerns are particularly relevant to health access efforts that seek to reduce preventable differences in care and outcomes.

The National Minority Quality Forum (NMQF) addresses related challenges through its health education and advocacy work. Its mission is to reduce patient risk and advance health access by helping ensure access to optimal care, particularly for populations that have historically faced barriers within the healthcare system. NMQF’s Ask About ATTR campaign specifically focuses on improving awareness and understanding of ATTR-CM. The initiative provides culturally relevant, accessible information intended to help individuals and families recognize potential symptoms, understand hereditary risk and feel more confident discussing screening, testing and diagnosis with healthcare providers. The campaign is especially relevant for communities disproportionately affected by hereditary ATTR-CM, including Black Americans.

The initiative reflects a central principle of health access: awareness must be paired with the opportunity to receive appropriate care. Educational resources can help patients recognize when to ask questions, but improved outcomes also depend on clinicians considering the disease when warranted, diagnostic services being available and patients being able to access specialists and appropriate treatment.

NMQF’s broader initiatives reinforce the importance of identifying health problems earlier and addressing the systems that contribute to unequal outcomes. Its Cancer Stage Shifting Initiative, for example, works to promote earlier cancer diagnosis and treatment, particularly in underserved and underrepresented communities. Although amyloidosis and cancer are different diseases, the emphasis on early recognition, informed patients and timely access to care reflects a shared approach to reducing preventable harm.

World Amyloidosis Day is an opportunity for patients and families to learn about the condition and for healthcare professionals to consider how rare diseases can be overlooked when symptoms resemble more familiar illnesses. People experiencing persistent or unexplained symptoms can discuss their concerns, personal and family medical histories, and whether further evaluation is appropriate with their healthcare providers.

Ultimately, improving outcomes for people living with amyloidosis requires more than identifying the disease. It requires a healthcare system in which patients are heard, risk factors are recognized and timely diagnostic and treatment services are accessible. Through its Ask About ATTR campaign and wider commitment to health access, NMQF is helping bring greater attention to the importance of informed conversations and equitable cardiovascular care. On October 26th, raising awareness can serve as a starting point for earlier recognition and a more equitable path to diagnosis.