Key result
Diagnostic delays in light-chain cardiac amyloidosis can be avoided by recognizing that negative bone scintigraphy or fat pad biopsy does not exclude the disease, and fibril typing is essential.
Why the study?
Light chain cardiac amyloidosis is a medical urgency where diagnostic delays are catastrophic, requiring guidance on pearls and pitfalls to avoid diagnostic and therapeutic delays.
Diagnostic delays in AL cardiac amyloidosis can be avoided by recognizing that negative bone scintigraphy or fat pad biopsy does not rule out the disease, and amyloid typing is essential.
Supports caution against excluding light-chain amyloidosis on negative tests; hypothesis-generating for diagnostic algorithms pending validation.
Cardiac 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.
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Michieli et al. (2023) conducted a review in Light-chain cardiac amyloidosis. Diagnostic evaluation was evaluated. Diagnostic delays in light-chain cardiac amyloidosis can be avoided by recognizing that negative bone scintigraphy or fat pad biopsy does not exclude the disease, and fibril typing is essential.
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