Cardiac amyloidosis laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]; Aarti Narayan, M.B.B.S [3]; Lakshmi Gopalakrishnan, M.B.B.S. [4]

Overview

There is no single specific diagnostic test that can be used to diagnose amyloidosis and the diagnosis is based upon the totality of the data.

Laboratory Findings

The following are the laboratory tests included in the management of cardiac amyloidosis:

  • A Normocytic normochromic anemia may be present
  • Erythrocyte sedimentation rate (ESR) may be elevated
  • Cardiac troponins may be elevated due to myonecrosis and small-vessel disease due to deposition of amyloid in the heart. Troponins are of both diagnostic and prognostic importance. Studies have shown worse survival rates in patients with systemic amyloidosis and cardiac involvement compared to those without cardiac involvement.[1]
  • [[Atrial natriuretic peptide] may be elevated in patients with congestive heart failure
  • Brain natriuretic peptide: may be elevated in patients with congestive heart failure. N-terminal proBNP is the most sensitive marker of heart dysfunction in amyloid patients. BNP levels may be seen elevated even before the onset of clinical heart failure. It is suggested that myocyte damage caused by extracellular deposition of amyloid is the reason for this finding.[2][3] Elevated levels of this marker have been shown to be associated with a higher mortality rate. [4]
  • β2 microglobulin may be elevated in heart failure
  • Serum transthyretin
  • Serum and urine electrophoresis
  • Serum and urine immunofixation is more sensitive than serum and urine electrophoresis
  • Serum free-light-chain assay is even more sensitive and can detect circulating free light chains with > 10-fold sensitivity than immunofixation[5]

References

  1. Dispenzieri A, Kyle RA, Gertz MA; et al. (2003). "Survival in patients with primary systemic amyloidosis and raised serum cardiac troponins". Lancet. 361 (9371): 1787–9. doi:10.1016/S0140-6736(03)13396-X. PMID 12781539. Unknown parameter |month= ignored (help)
  2. Palladini G, Lavatelli F, Russo P; et al. (2006). "Circulating amyloidogenic free light chains and serum N-terminal natriuretic peptide type B decrease simultaneously in association with improvement of survival in AL". Blood. 107 (10): 3854–8. doi:10.1182/blood-2005-11-4385. PMID 16434487. Unknown parameter |month= ignored (help)
  3. Nordlinger M, Magnani B, Skinner M, Falk RH (2005). "Is elevated plasma B-natriuretic peptide in amyloidosis simply a function of the presence of heart failure?". The American Journal of Cardiology. 96 (7): 982–4. doi:10.1016/j.amjcard.2005.05.057. PMID 16188528. Unknown parameter |month= ignored (help)
  4. Palladini G, Campana C, Klersy C; et al. (2003). "Serum N-terminal pro-brain natriuretic peptide is a sensitive marker of myocardial dysfunction in AL amyloidosis". Circulation. 107 (19): 2440–5. doi:10.1161/01.CIR.0000068314.02595.B2. PMID 12719281. Unknown parameter |month= ignored (help)
  5. Abraham RS, Katzmann JA, Clark RJ, Bradwell AR, Kyle RA, Gertz MA (2003). "Quantitative analysis of serum free light chains. A new marker for the diagnostic evaluation of primary systemic amyloidosis". American Journal of Clinical Pathology. 119 (2): 274–8. doi:10.1309/LYWM-47K2-L8XY-FFB3. PMID 12579999. Unknown parameter |month= ignored (help)


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