Familial amyloidosis laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Farima Kahe M.D. [2]

Overview

Laboratory findings in amyloidosis include elevated erythrocyte sedimentation rate, increased BUN level, serum creatinine, protein, casts, or fat bodies in urine. Serum troponin, B-type natriuretic peptide, and beta-2-microglobulin are prognostic markers for heart failure. Amyloid deposits can be identified histologically by Congo red staining and viewing under polarized light where amyloid deposits produce a distinctive 'apple green birefringence'. Alternatively, thioflavin T stain may be used. An abdominal fat pad aspiration, rectal mucosa biopsy, or bone marrow biopsy can help confirm the diagnosis. They reveal positive findings in 80% patients.

Laboratory Findings

Cardiac

• Cardiac biomarkers are the most important predictors of outcome in amyloidosis. They provide a quantitative assessment for cardiac damage and wall strain.

• Troponin I or Troponin T
• BNP and NT-proBNP

Hepatic

• Common tests that are abnormal in liver function tests including:

• AST
• ALT
• Total bilirubin
• Alkaline phosphatase
• Albumin

Renal

• Common tests that are abnormal in renal function tests including:

• Serum creatinine
• Urinary protein
• Glomerular filtration rate
• Albumin to creatinine ratio in the urine

Thyroid

• Common tests that are abnormal in thyroidal involvement of amyloidosis include:

• TSH
• Free T4

Bone marrow

• Concurrent multiple myeloma can be found in patients with amyloidosis. In such cases laboratory testing include:

• Serum protein electrophoresis
• Immunoglobulin levels
• Serum free light chains
• Beta-2-microglobulin