Primary Systemic Amyloidosis Differential Diagnoses

Updated: Aug 11, 2023
  • Author: Judit H Nyirady, MD, MBA; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Clinical/laboratory clues to cardiac involvement with amyloidosis include the following [3] :

  • Persistently elevated cardiac troponin levels, or multiple presentations with elevated cardiac troponin that are not adequately explained by coronary angiography results
  • Heart failure combined with findings in other organ that are characteristic of amyloidosis (eg, macroglossia, nephrotic syndrome, elevated alkaline phosphatase, dysphagia)
  • Unexplained heart block, atrial arrhythmias, or ventricular arrhythmias in a patient with increased ventricular wall thickness

In patients with suspected cardiac amyloidosis, normal results on serum/urine protein electrophoresis with immunofixation (SPEI/UPEI) and a normal serum kappa:lambda free light chain (FLC) ratio make systemic (AL) amyloidosis highly unlikely; these patients should be evaluated for transthyretin-related amyloidosis. Patients with an abnormal SPEI/UPEI or FLC ratio should undergo biopsy for identification and subtyping of amyloid deposits, which will identify AL amyloidosis and exclude monoclonal gammopathy of undetermined significance (MGUS) and myeloma. [3] See Workup.

Differential Diagnoses