Increasing Awareness Around ATTR-CM

Summary for Physicians: The Call to Action for ATTR-CM Awareness and Its Classification as a Rare Disease (Brito et al 2023)

1. The Call to Action for Raising Awareness for ATTR-CM (Brito et al 2023)

• Reason for call to action: The call to action to raise awareness about transthyretin amyloid cardiomyopathy (ATTR-CM) stems from the realization that this condition is frequently underdiagnosed or misdiagnosed despite its growing prevalence and devastating impact on patients. ATTR-CM can easily be mistaken for other common cardiac conditions such as heart failure with preserved ejection fraction, which leads to delays in diagnosis and appropriate treatment.
• Key points from Brito et al (2023):
• Diagnostic delay: ATTR-CM is often diagnosed too late, after irreversible damage has occurred. Early recognition is critical, as recent advancements in diagnostic tools (eg, 99mTc-PYP scintigraphy) and disease-modifying therapies (eg, tafamidis, patisiran, and inotersen) can significantly improve patient outcomes when started early.
• Increasing prevalence: The increasing recognition of the disease, especially in the aging population, has prompted the need for greater awareness. Both hereditary (mutated TTR gene) and wild-type ATTR (mostly seen in older adults) contribute to the disease burden. As the population ages, ATTR-CM is expected to be more common than previously recognized.
• Impact of awareness: Raising awareness among health care providers, especially cardiologists, can lead to faster diagnosis, earlier treatment initiation, and better management, ultimately improving quality of life and survival for affected patients.

Conclusion: The call to action, emphasized by Dr Abou Ezzeddine and Brito et al, highlights the importance of increased awareness, faster diagnosis, and early therapeutic intervention to optimize patient outcomes in ATTR-CM.

1. Is ATTR-CM Still Considered a Rare Disease?

• Current classification: Although ATTR-CM was historically classified as a rare disease, this is increasingly being questioned, especially with the rise in awareness and the availability of diagnostic tools. It is becoming clear that ATTR-CM is not as rare as once thought, particularly in aging populations.
• Why it may no longer be considered rare:
• Growing recognition: Advances in imaging techniques, genetic testing, and biomarker identification have led to increased recognition of ATTR-CM. As more clinicians consider this diagnosis in patients with unexplained heart failure, the number of diagnosed cases grows.
• Higher prevalence in older adults: Wild-type ATTR-CM, which primarily affects older individuals, is much more common than previously acknowledged. This form of the disease is now recognized as a significant cause of heart failure in older populations, suggesting that ATTR-CM may be more prevalent than we once thought, especially in older patients.
• Increased diagnostic capability: The introduction of diagnostic imaging methods (eg, 99mTc-PYP scintigraphy) and genetic testing has enabled clinicians to detect the disease earlier, even in asymptomatic or mildly symptomatic patients, further contributing to the apparent rise in prevalence.

Conclusion: ATTR-CM, although still classified as a rare disease by traditional definitions, is likely more common than previously recognized, especially in older populations. With better diagnostic tools and increasing awareness, the condition may no longer be considered rare, and more patients will benefit from timely diagnosis and intervention.