RT Journal Article
SR Electronic
T1 Diagnostic Challenges in Amyloid Light-Chain Amyloidosis
JF American Society for Clinical Laboratory Science
JO Clin Lab Sci
FD American Society of Chemistry and Laboratory Science
DO 10.29074/ascls.2026003334
A1 Mosley, Sam
A1 Moreau, Kate
YR 2026
UL http://hwmaint.clsjournal.ascls.org/content/early/2026/08/28/ascls.2026003334.abstract
AB Amyloid light-chain (AL) amyloidosis is a rare plasma cell disorder characterized by the extracellular deposition of misfolded immunoglobulin light chains, resulting in organ dysfunction and high mortality. Delayed and missed diagnoses are common owing to nonspecific, heterogeneous symptoms. Evidence shows that racial and ethnic minorities, individuals with low socioeconomic status, and patients without access to specialized centers are more likely to experience delayed diagnoses and reduced treatment access. This introduces the potential for populations affected by AL amyloidosis to be excluded from clinical cohorts. From a laboratory perspective, diagnosis relies heavily on serum and urine free light-chain assays. Reference intervals present an ongoing challenge as recommendations shift from population-specific to population-inclusive models and as organ dysfunction confounds urine-based assays. Refinement of reference intervals using diverse cohorts, development of novel assays targeting amyloidogenic light chains, risk-based stratification approaches, and artificial intelligence–based predictive models show promise for earlier disease recognition. Addressing diagnostic delays while minimizing unnecessary interventions requires coordinated improvements in laboratory testing, provider education, infrastructure, and population-based research.