The Amyloid Files: Cracking the Case – Evolving Strategies in Cardiac Amyloidosis-The Diagnostic Trail

Video Transcription

Video Summary

The session focused on diagnostic approaches for identifying cardiac amyloidosis, specifically distinguishing ATTR amyloidosis from AL amyloidosis. Initial diagnosis involves ruling out monoclonal proteins through tests like serum protein electrophoresis (SPEP), urine protein electrophoresis (UPEP), and serum-free light chain assay. The gold standard for confirming amyloid deposits is a biopsy, preferably of the clinically affected organ, like the heart, followed by mass spectrometry for subtyping the amyloid. Bone scintigraphy, particularly with technetium pyrophosphate (PYP) scans, is crucial for indirect diagnosis but is only reliable if monoclonal proteins are absent. The session also covered the genetic aspects of ATTR, highlighting the simplicity of testing for specific TTR gene mutations and the significance of understanding genetic nomenclature. Overall, careful interpretation of these diagnostic tests is essential for accurate differentiation and diagnosis of amyloidosis.

Keywords

cardiac amyloidosis

ATTR amyloidosis

AL amyloidosis

diagnostic tests

genetic testing