What is the role of lab testing in the workup of cardiac amyloidosis?

Updated: Mar 25, 2020
  • Author: Gyanendra K Sharma, MD, FACC, FASE; Chief Editor: Terrence X O'Brien, MD, MS, FACC  more...
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Answer

Laboratory tests include measurements of the following:

  • Troponin: Elevated levels of troponin T have been seen in patients with familial amyloid polyneuropathy (FAP), systolic dysfunction, and left ventricular (LV) hypertrophy (LVH). [39]

  • B-type natriuretic peptide (BNP): High plasma BNP levels may be useful as prognostic markers of cardiac function in patients with senile systemic amyloidosis (but not FAP). [21]

  • N-terminal pro-brain natriuretic peptide (NT-proBNP): Elevated NT-pro-BNP levels, whether or not accompanied by findings of increased LV filling pressures, have been noted in patients with FAP, systolic dysfunction, and/or LVH. [39]  NT-proBNP has high sensitivity for cardiac involvement in patients with systemic light chain amyloidosis; the combination of NT-proBNP with echocardiography appears to make the diagnosis of cardiac amyloidosis without the need for endomyocardial biopsy. [40]  A negative NT-proBNP appears to exclude clinically meaningful cardiac involvement and may remove the need for routine use of TTE in patients at low clinical suspicion for cardiac amyloidosis. [40]

  • Urine for proteinuria

  • Serum and urine protein electrophoresis

  • Serum and urine immunofixation (more sensitive than electrophoresis)

  • Transthyretin protein (TTR): TTR has been found in patients with senile systemic amyloidosis [24] and TTR variants of familial systemic amyloidosis. [21]

  • Genetic studies: Identification of the specific type of amyloidosis is important. [30]


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