"Serum alkaline phosphatase might be elevated 1, as well as NT-proBNP in the setting of cardiac involvement 2."
"Echocardiography serves as a first-line imaging tool in the evaluation of cardiac involvement of amyloidosis. Echocardiographic criteria for cardiac amyloidosis in general include an increased wall thickness (≥12 mm) and other characteristic features such as 7-9:"
"IRGE/PSIR: often global subendocardial enhancement, but can be absent 12,13"
"T1 mapping: markedly increased native T1"
"ECV: markedly increased (≥40%) 7,8"
"Amyloid light chain amyloidosis is a rare disease with an estimated incidence of less than 1/100000 per year 1-3, but also the most common form of systemic amyloidosis 1-3. Women and men are equally affected 2. However, at this point, epidemiological data still varies significantly among different countries 2. The majority of patients have some degree of cardiac or renal involvement or both 1-6."
"cardiac involvement: characteristic cardiac imaging findings with or without elevated NT-proBNP (>332 ng/L) 4"
"Serum alkaline phosphatase might be elevated 1, as well as NT-proBNP in the setting of cardiac involvement 2."
"ECG might show decreased limb QRS voltage (≤5 mV) 4,5."
"Cardiac MRI might reveal a mildly increased left ventricular mass, increased native T1 and ECV on myocardial mapping and a variably diffuse, often global subendocardial or transmural late enhancement in a nonischaemic pattern, as well as abnormal blood pool gadolinium kinetics 7,8."
"IRGE/PSIR: often global subendocardial enhancement, but can be absent 12,13"
"ECV: markedly increased (≥40%) 7,8"
"It is worth noting that a reliable differentiation between AL and ATTR is not possible with MR imaging 7-10. However, imaging features favouring AL amyloidosis over ATTR amyloidosis have been described 12,14:"
"It is worth noting that a reliable differentiation between AL and ATTR is not possible with MR imaging 7-10. However, imaging features favouring AL amyloidosis over ATTR amyloidosis have been described 12,14:"
"late gadolinium enhancement is less extensive, often global subendocardial with a QALE score"
"Bone scintigraphy with Perugini grading is often negative in the setting of cardiac AL-amyloidosis, where patients often show no or minimal uptake in the myocardium 5,6. A Perugini grade of 2 or 3 thus points more to ATTR amyloidosis 5-7."
"However, in a significant number of patients, bone scintigraphy has also been reported to be false-positive (>10%) 6,8, and haematological screening is mandatory to exclude AL amyloidosis before a non-invasive ATTR diagnosis is accepted, regardless of scintigraphy result 16."
"abnormal T1 and T2 mapping and ECV values (if performed/calculated)"
"ATTR amyloidosis"
"the PSIR sequence is an option to better deal with the difficulties of nulling myocardium 12,13"
"Waldenström macroglobulinaemia"
Expected headings
"Associations"
"Echocardiography"
"Signal characteristics"
"MRI"
"histopathological diagnosis with amyloid typing (e.g. by determination of precursor protein by mass spectrometry)"
"Symptoms are usually vague, nonspecific and variable. Presentations include fatigue, dizziness and/or weight loss as well as organ-related signs and symptoms such as 1,4,5:"
"Other possible but less common symptoms include gastroparesis and intestinal pseudoobstruction, xerostomia and jaw claudication 1."
"presence, pattern and distribution of late gadolinium enhancement"
"Patient-related case descriptions with presumed amyloidosis reach back to the 17th century 1, and the history of AL amyloidosis includes further descriptions, including the discovery of Bence Jones proteins in urine. Finally, in 1867, the physician H Weber described the autopsy of a patient with non-traumatic fractures in the sternum, where he found cells of unclear identity in the bone marrow and identified amyloid in the hypertrophied heart, spleen and kidneys, the latter indicating a setting of myeloma associated with amyloidosis 19-22."
"Amyloid light chain amyloidosis occurs in the systemic form; organ involvement is frequent and might include the following organs 4:"
"Management of amyloidosis depends entirely on the amyloid type; therefore, amyloid typing is crucial 4. Both treatment and prognosis will mostly depend on the degree of organ involvement, but also on other factors such as age, performance status, as well as bone marrow findings 17. The main goal in treatment is maximal reduction of circulating light chains and recovery of affected organs with improvement and maintenance of organ function 1. Except for a few localised forms, all forms of systemic AL amyloidosis require systemic treatment 3. Options are autologous stem cell transplantation, alkylator-based regimens such as melphalan/dexamethasone, newer agent-based treatments that include the anti-CD38 monoclonal antibody daratumumab and/or the proteasome inhibitor bortezomib, as well as supportive care 1-4,17,18."
"diagnosis requires a high index of suspicion and a testing sequence; there is no single test for the disease 1"