Cardiac amyloidosis, particularly wild-type transthyretin amyloidosis, is often underdiagnosed, affecting mainly elderly men. Recognizing red flags suggestive of wild-type transthyretin amyloidosis is important for timely diagnosis and allows patients to benefit from effective therapies.
- Cardiac amyloidosis is a group of diseases characterized by extracellular deposition of misfolded proteins in the heart.
- Three types of amyloidosis mainly affect the heart: light-chain amyloidosis, hereditary/variant transthyretin amyloidosis, and wild-type transthyretin amyloidosis.
- Cardiac red flags include heart failure symptoms, abnormal ECG, troponin elevation, elevated NT-proBNP, and typical echocardiogram and CMR findings.
- Extracardiac red flags include bilateral carpal tunnel syndrome, lumbar spinal stenosis, biceps tendon rupture, and polyneuropathy.
Cardiac amyloidosis is a group of diseases characterized by the extracellular deposition of misfolded, insoluble proteins in organ tissues, with three relevant types mainly affecting the heart: light-chain (AL) amyloidosis, hereditary/variant transthyretin amyloidosis (vATTR), and wild-type transthyretin amyloidosis (wtATTR). wtATTR, affecting mostly elderly men, is the most common form of cardiac amyloidosis and is often underdiagnosed.
Recognizing Cardiac Red Flags
According to a review published in the journal Praxis, recognizing cardiac and extracardiac red flags indicative of wtATTR is essential for timely diagnosis, enabling patients to benefit from effective therapies such as tafamidis. Cardiac red flags include signs and symptoms of heart failure (usually with preserved ejection fraction), pathologic electrocardiogram (ECG), troponin elevation, elevated N-terminal fragment of prohormone brain natriuretic peptide (NT-proBNP), and typical findings in the echocardiogram and cardiac magnetic resonance imaging (CMR).
Identifying Extracardiac Red Flags
Extracardiac red flags include bilateral musculoskeletal problems, such as carpal tunnel syndrome, lumbar spinal stenosis, and biceps tendon rupture, and polyneuropathy. Identifying these signs can lead to early suspicion and diagnosis of wtATTR. Notably, these symptoms often precede cardiac manifestations, making them valuable indicators for clinicians to consider when assessing patients. By recognizing and addressing these extracardiac red flags, healthcare professionals can facilitate earlier intervention and improve patient outcomes.
The Importance of Timely Intervention
Tafamidis, an effective therapy for wtATTR, has been shown to slow disease progression, reduce hospitalization rates, and improve overall survival. Therefore, heightened awareness and recognition of cardiac and extracardiac red flags is of utmost importance for clinicians to identify wtATTR and facilitate timely treatment.
When cardiac amyloidosis is suspected, it is crucial to rapidly exclude AL amyloidosis through immunoelectrophoresis, immunofixation, and light-chain assay since AL amyloidosis requires urgent hematologic therapy. Patients should then be referred to a cardiologist for further assessment.
Source:
Galuszka, O. M., & Stämpfli, S. F. (2023). Red Flags Suggesting Cardiac Transthyretin Amyloidosis (ATTR) in Clinical Practice. Praxis (Bern 1994), 112(5-6), 357-361. https://doi.org/10.1024/1661-8157/a004001
