Biomarkers in AL Amyloidosis

Abstract

Systemic AL amyloidosis is a rare complex hematological disorder caused by clonal plasma cells which produce amyloidogenic immunoglobulins. Outcome and prognosis is the combinatory result of the extent and pattern of organ involvement secondary to amyloid fibril deposition and the biology and burden of the underlying plasma cell clone. Prognosis, as assessed by overall survival, and early outcomes is determined by degree of cardiac dysfunction and current staging systems are based on biomarkers that reflect the degree of cardiac damage. The risk of progression to end-stage renal disease requiring dialysis is assessed by renal staging systems. Longer-term survival and response to treatment is affected by markers of the underlying plasma cell clone; the genetic background of the clonal disease as evaluated by interphase fluorescence in situ hybridization in particular has predictive value and may guide treatment selection. Free light chain assessment forms the basis of hematological response criteria and minimal residual disease as assessed by sensitive methods is gradually being incorporated into clinical practice. However, sensitive biomarkers that could aid in the early diagnosis and that could reflect all aspects of organ damage and disease biology are needed and efforts to identify them are continuous.

Metabolomic fingerprinting for biomarker discovery in renal amyloidosis

“…Identification of potential biomarkers in biological fluids promotes better understanding of disease onset and progression [41]. Previous studies have showcased the role of biological markers in early diagnosis of amyloid-associated disorders [29,[42][43][44][45][46]. Despite of the presence of biological markers signifying renal failure and its associated diseases [47,48], distinct diagnostic markers for renal amyloidosis has not been explored till date.…”

Diagnóstico de amiloidosis sistémica. Bases hematológicas útiles para el cardiólogo clínico

“…El filtrado glomerular < 50 ml/min y la proteinuria > 5 g se correlacionan con la probabilidad de diálisis a 2 años (0%, 7% y 60% a 2 años), aunque sin impacto en la sobrevida global (22) .…”

Pulmonary Transit Time Derived from First‐Pass Perfusion Cardiac MR Imaging: A Potential New Marker for Cardiac Involvement and Prognosis in Light‐Chain Amyloidosis

“…8 Although serum cardiac biomarkers provide insight into cardiac involvement in patients with AL amyloidosis, they cannot identify all individuals at risk, particularly those with moderate risk. 9,10 Newer biomarkers that may improve AL amyloidosis risk stratification are needed. 11 Cardiac MR imaging aids in accurately characterizing heart size, morphology, and function.…”

“…A widely used Mayo 2004 staging system based on cTnT and NT‐proBNP, classifies AL amyloidosis into three stages: I, II, and III 8 . Although serum cardiac biomarkers provide insight into cardiac involvement in patients with AL amyloidosis, they cannot identify all individuals at risk, particularly those with moderate risk 9,10 . Newer biomarkers that may improve AL amyloidosis risk stratification are needed 11 …”