Wild-type (senile) amyloidosis other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]

Other Diagnostic Studies

Other diagnostic studies that help in diagnosing wild type amyloidosis include cardiac biomarkers, histopathological diagnosis and genetic testing.

Other Diagnostic Studies
Cardiac biomarkers	Brain natriuretic peptide (BNP), N-terminal fragment of BNP (NT-proBNP) and cardiac troponins. Elevation of NT-proBNP indicates the presence of left ventricular abnormalities in patients with familial mutation in ATTR Used as a screening test to initiate workup for ATTRm-CA Increasing serum levels of BNP, NT-proBNP and troponins were shown to have a progressive correlation with disease severity and worse outcomes Monitoring of these cardiac biomarkers is being employed to monitor treatment
Histopathological diagnosis	EMB with histopathology remains the gold standard for diagnosis of cardiac amyloidosis. Histopathology demonstrates deposition of amorphous deposits of amyloid fibrils in the heart. The binding of Congo red stain to the deposited amyloid fibrils leads to characteristic apple-green birefringence under polarized light microscopy and an intense yellow-green fluorescence is seen when binding to thioflavin. Precursor protein identification can be accomplished by immunohistochemistry, electron microscopy, or mass spectrometry (preferred), depending upon institutional expertise. Adjunctive laboratory tests to rule out AL include assaying for other organ dysfunction (e.g., proteinuria, alkaline phosphatase) and directly measuring the circulating light chains in plasma. EMB is associated with risks of complications such as Ventricular free-wall perforation Arrhythmia Conduction abnormalities
Genetic testing	DNA sequencing for the transthyretin gene Absence of amino acid sequence abnormalities by mass spectrometry is consistent with ATTRwt-CA Presence of a pathologic mutation Predict sites of organ involvement Family history