• Laura De Michieli, Giulio Sinigiani, Monica De Gaspari, Antonio Branca, Stefania Rizzo, Cristina Basso, Livio Trentin, Sabino Iliceto, Martina Perazzolo Marra, Alberto Cipriani, and Tamara Berno.
• Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padova, Via Giustiniani, 2, 35128, Padua, Italy. laura.demichieli@phd.unipd.it.
• Intern Emerg Med. 2023 Oct 1; 18 (7): 187918861879-1886.

AbstractCardiac amyloidosis (CA) is an uncommon, progressive, and fatal disease; the two main forms that can affect the heart are transthyretin CA and light chain CA (AL-CA). AL-CA is a medical urgency for which a diagnostic delay can be catastrophic for patients' outcome. In this manuscript, we focus on the pearls and pitfalls that are relevant to achieve a correct diagnosis and to avoid diagnostic and therapeutical delays. Through the aid of three unfortunate clinical cases, some fundamental diagnostic aspects are addressed, including the following: first, a negative bone scintigraphy does not exclude CA, with patients with AL-CA frequently showing no or mild cardiac uptake, and its execution should not delay hematological tests; second, fat pad biopsy does not have a 100% sensitivity for AL amyloidosis and, if negative, further investigations should be performed, particularly if the pre-test probability is high. Third, Congo Red staining is not sufficient to reach a definitive diagnosis and amyloid fibrils typing with mass spectrometry, immunohistochemistry, or immunoelectron microscopy is crucial. To achieve a timely and correct diagnosis, all the necessary investigations must be performed, always considering the yield and diagnostic accuracy of each examination.© 2023. The Author(s).

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