Figure 1
Figure 1. Pathway for a patient with suspected AL amyloidosis. Signs and symptoms derive from organ involvement: heart and kidney in 70% of patients each, liver in 17% of patients, soft tissues in 17% of patients, peripheral and autonomous nervous system in 15% of patients each, and gastrointestinal tract in 10% of patients. Clinical manifestations with head and neck purpura, unexplained submandibular swelling, signs of heart diastolic dysfunction such as jugular venous distention (white arrowhead), or stiff indented macroglossia, although found in no more than 15% of patients, are prototypic, but late manifestations of the disease. Symptoms and signs derive from advanced organ failure caused by the amyloid-forming process, whereas biomarkers of heart and kidney function (NT-proBNP and albuminuria) may allow identifying presymptomatic patients with initial, possibly reversible, amyloidotic organ damage. The diagnostic process involves the detection of the amyloid deposits and of the underlying PC clone. Considering the wide clinical heterogeneity of this disease, the assessment of the organ dysfunction is necessary in order to define the risk of chemotherapy. The flowchart represents the authors’ view on the current approach for management of a patient with AL amyloidosis. NT-proBNP cutoffs are not applicable in patients with end-stage renal failure. MDex represents the standard of care in most countries, and risk-adapted CTD is an alternative. Although increasingly used in clinical practice, the clinical benefit of adding bortezomib to dexamethasone and alkylating agents frontline remains unproven and is still being tested in controlled trials. ASCT with HMD, autologous stem cell transplantation with high-dose melphalan; BMDex, bortezomib, melphalan, dexamethasone; CTD, cyclophosphamide, thalidomide, dexamethasone; CyBorD, cyclophosphamide, bortezomib, dexamethasone; eGFR, estimated glomerular filtration rate; FLC, serum-free LC measurement; IF, immunofixation; iFISH, interphase fluorescence in situ hybridization; IHC, immunohistochemistry; LC-MS, laser capture microdissection and mass spectrometry; MDex, melphalan dexamethasone; MGUS/MM, monoclonal gammopathy of undetermined significance/multiple myeloma; NT-proBNP, amino-terminal pro–natriuretic peptide type-B; PS, performance status.

Pathway for a patient with suspected AL amyloidosis. Signs and symptoms derive from organ involvement: heart and kidney in 70% of patients each, liver in 17% of patients, soft tissues in 17% of patients, peripheral and autonomous nervous system in 15% of patients each, and gastrointestinal tract in 10% of patients. Clinical manifestations with head and neck purpura, unexplained submandibular swelling, signs of heart diastolic dysfunction such as jugular venous distention (white arrowhead), or stiff indented macroglossia, although found in no more than 15% of patients, are prototypic, but late manifestations of the disease. Symptoms and signs derive from advanced organ failure caused by the amyloid-forming process, whereas biomarkers of heart and kidney function (NT-proBNP and albuminuria) may allow identifying presymptomatic patients with initial, possibly reversible, amyloidotic organ damage. The diagnostic process involves the detection of the amyloid deposits and of the underlying PC clone. Considering the wide clinical heterogeneity of this disease, the assessment of the organ dysfunction is necessary in order to define the risk of chemotherapy. The flowchart represents the authors’ view on the current approach for management of a patient with AL amyloidosis. NT-proBNP cutoffs are not applicable in patients with end-stage renal failure. MDex represents the standard of care in most countries, and risk-adapted CTD is an alternative. Although increasingly used in clinical practice, the clinical benefit of adding bortezomib to dexamethasone and alkylating agents frontline remains unproven and is still being tested in controlled trials. ASCT with HMD, autologous stem cell transplantation with high-dose melphalan; BMDex, bortezomib, melphalan, dexamethasone; CTD, cyclophosphamide, thalidomide, dexamethasone; CyBorD, cyclophosphamide, bortezomib, dexamethasone; eGFR, estimated glomerular filtration rate; FLC, serum-free LC measurement; IF, immunofixation; iFISH, interphase fluorescence in situ hybridization; IHC, immunohistochemistry; LC-MS, laser capture microdissection and mass spectrometry; MDex, melphalan dexamethasone; MGUS/MM, monoclonal gammopathy of undetermined significance/multiple myeloma; NT-proBNP, amino-terminal pro–natriuretic peptide type-B; PS, performance status.

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