Immunoglobulin Light Chain Amyloidosis: Diagnosis and Risk Assessment
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Immunoglobulin light chain (AL) amyloidosis is a clonal plasma cell disorder with multiple clinical presentations. The diagnosis of AL amyloidosis requires a high index of suspicion, making a delay in diagnosis common, which contributes to the high early mortality seen in this disease. Establishing the diagnosis of AL amyloidosis requires the demonstration of tissue deposition of amyloid fibrils. A bone marrow biopsy and fat pad aspirate performed concurrently have a high sensitivity for the diagnosis of AL amyloidosis and negate the need for organ biopsies in most patients. An accurate diagnosis requires amyloid typing via additional testing, including tissue mass spectrometry. Prognostication for AL amyloidosis is largely driven by the organs impacted. Cardiac involvement represents the single most important prognostic marker, and the existing staging systems are driven by cardiac biomarkers. Apart from organ involvement, plasma cell percentage on the bone marrow biopsy, specific fluorescence in situ hybridization findings, age at diagnosis, and performance status are important prognostic markers. This review elaborates on the diagnostic testing and prognostication for patients with newly diagnosed AL amyloidosis.
Submitted June 21, 2022; final revision received September 12, 2022; accepted for publication September 22, 2022.
Funding: Grant funding was received from the Amyloidosis Foundation and the International Waldenstrom’s Macroglobulinemia Foundation (NCI SPORE MM SPORE 5P50 CA186781-04).
Disclosures: Dr. Gertz has disclosed receiving personal fees from Ionis/Akcea, Prothena, Sanofi, Janssen, Aptitude Health, Ashfield, Juno, Physicians Education Resource, Johnson & Johnson, Celgene, Research to Practice, and Sorrento; developing educational materials of i3Health; receiving grant/research support from Ashfield; and serving on a data safety monitoring board for Abbvie. Dr. Muchtar has disclosed receiving honoraria from Janssen, and receiving consulting fees from Protego. Dr. Zanwar has disclosed having no financial interests, arrangements, affiliations, or commercial interests with the manufacturers of any products discussed in this article or their competitors.
Funding: Grant funding was received from the Amyloidosis Foundation and the International Waldenstrom’s Macroglobulinemia Foundation (NCI SPORE MM SPORE 5P50 CA186781-04).
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