Clinical Information

Amyloidosis is a group of hereditary and acquired diseases unified by extracellular tissue deposition of misfolded proteins resulting in end organ damage. Amyloidosis can be a systemic or localized disease. Although many cases of amyloidosis are hereditary, most are acquired as the result of an underlying monoclonal B-cell/plasma cell malignancy, as a phenomenon of aging, or as the result of long-standing chronic inflammation. Specific amyloid-related diseases are therefore associated with specific amyloid proteins. These include kappa or lambda immunoglobulin light chains (AL amyloid), transthyretin (ATTR amyloid), serum amyloid A (SAA amyloid), and other uncommon subtypes. Because treatment of amyloidosis patients differs radically for the different amyloid subtypes, it is critically important to accurately identify the proteins that constitute the amyloid deposits.

The basic diagnosis of amyloidosis is typically achieved by Congo red staining of paraffin-embedded tissue biopsy specimens obtained from diverse anatomic sites and demonstrating Congo red-positive, apple-green birefringent, amyloid deposits in the tissues. The next step is to definitively subtype the amyloid deposits. This test fulfills that need. It relies on laser microdissection of Congo red-positive amyloid deposits followed by analysis by liquid chromatography tandem mass spectrometry to accurately determine the identity of the proteins that constitute the amyloid.