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[Laboratory investigations to rule out AL amyloidosis: practical guidance for the cardiologist]

Giovanni Palladini1, Leonardo De Luca2, Paolo Milani1

  • 1Dipartimento di Medicina Molecolare, Università degli Studi, Pavia - Medicina Generale 2, Centro Amiloidosi e Malattie ad Alta Complessità, Fondazione IRCCS Policlinico San Matteo, Pavia.

Giornale Italiano Di Cardiologia (2006)
|July 29, 2026
PubMed

Insights

Prompt diagnosis of immunoglobulin light chain (AL) amyloidosis is crucial for heart failure patients. Utilizing specific free light chain (FLC) assays and validated reference intervals aids in early detection and management.

Area of Science:

  • Cardiology
  • Hematology
  • Clinical Diagnostics

Background:

  • Cardiac amyloidosis is a growing cause of heart failure.
  • Immunoglobulin light chain (AL) amyloidosis presents rapid progression and poor prognosis without timely intervention, yet offers significant potential for cardiac recovery.
  • Early exclusion of AL amyloidosis is paramount in diagnosing cardiac amyloidosis.

Purpose of the Study:

  • To provide practical guidance on laboratory test interpretation for diagnosing cardiac amyloidosis.
  • To emphasize the importance of timely AL amyloidosis exclusion.
  • To standardize the use of free light chain (FLC) assays in clinical practice.

Main Methods:

  • Investigating monoclonal protein presence via serum/urine immunofixation electrophoresis and free light chain (FLC) assay.
  • Highlighting the non-interchangeability of five available FLC assays in Italy.
  • Recommending consistent use of method-specific reference intervals for the κ/λ ratio.

Main Results:

  • Monoclonal proteins are detected in 98-100% of AL amyloidosis cases.
  • Different FLC assays necessitate distinct reference intervals.
  • Standardized laboratory testing is essential for patient management.

Conclusions:

  • Accurate interpretation of FLC assays and consistent use of validated reference intervals are critical.
  • Standardized diagnostic procedures facilitate prompt patient referral for appropriate treatment.
  • Early identification and management of AL amyloidosis can reverse cardiac dysfunction.

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