Iter diagnostico dei pazienti con sospetta amiloidosi cardiaca: il ruolo guida del laboratorio diagnostico
Diagnostic pathway to suspect cardiac amyloidosis: the guiding role of the diagnostic laboratory

AUTORI

ABSTRACT

Diagnostic pathway to suspect cardiac amyloidosis: the guiding role of the diagnostic laboratory

Rapid discrimination between transthyretin-related (ATTR) and immunoglobulin light chain (AL) amyloidosis is crucial to start specific, disease-modifying therapies to interfere with the production or deposition of liver-derived transthyretin or eradicate the underlying B cell/plasma cell clone, respectively. Differential diagnosis between these two clinical entities is particularly challenging in patients with isolated cardiac involvement, with potentially overlapping clinical presentations.Leveraging on the differential cardiac uptake of specific bone radiotracers, usually negative in AL amyloidosis, and positive in ATTR amyloidosis, a validated diagnostic algorithm can guide the diagnostic procedure. Here, we present the case of a patient with suspected cardiac amyloidosis exemplifying the importance of thorough M protein studies, along with the investigation of biomarkers of potential extra-cardiac amyloid involvement, to guide towards the correct diagnostic pathway.

BIBLIOGRAFIA

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