Amyloidosis diagnostic study of choice

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Shyam Patel [2]

The diagnostic study of choice in amyloidosis is tissue biopsy of the affected organ. Congo Red staining will show apple green birefringence of the tissue sample under polarized light, and subtyping of light chains (for light chain amyloidosis) can be done via mass spectrometry. Bone marrow biopsy and organ-specific laboratory measurements are also important ancillary tests.

• The diagnostic study of choice in amyloidosis is tissue biopsy of the affected organ.
• Congo Red staining will show apple green birefringence of the tissue sample under polarized light, and subtyping of light chains (for light chain amyloidosis) can be done via mass spectrometry.
• Mass spectrometry is only applicable to light chain amyloidosis.

• Tissue biopsy: A tissue biopsy of the affected organ is the gold standard test for amyloidosis. Particular stains can determine the subtype of amyloidosis.
• Bone marrow biopsy: A bone marrow biopsy is commonly done in patients who have light chain amyloidosis and suspected concurrent multiple myeloma.^[1]
• Organ-specific labs: If a particular organ is affected, laboratory measurements that are specific to that organ can be measured. For example, if there is liver involvement, liver function tests (such as AST, ALT, total bilirubin, and alkaline phosphatase) should be measured.^[2]

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