Table 3.
Diagnostic Work-Up in Patients With Suspected AL Amyloidosis
| Test/Procedure | |
|---|---|
| Blood/serum testsa | CBC with manual differential |
| Basic metabolic panel | |
| Liver function tests | |
| SPEP+IFE | |
| FLC | |
| LDH | |
| β2 microglobulin | |
| Albumin | |
| High-sensitivity troponin | |
| NT-proBNP | |
| TSH and free T4 | |
| Cholesterol panel | |
| PT and PTTb | |
| Urine tests | Albumin/creatinine ratio |
| UPEP+IFE | |
| Imaging studies and diagnostic procedures | Bone survey inclusive of long bones and skull and/or PET/CT |
| ECG | |
| TTE | |
| CMRc | |
| Right heart catheterization (with endomyocardial biopsy if indicated)c | |
| Chest x-ray/CT chestc | |
| Abdominal imagingc | |
| EMGc | |
| GI transitc | |
| Upper and lower endoscopiesc | |
| Pathology specimens | Unilateral bone marrow aspirate and biopsy for IHC, Congo red stain, flow cytometry, and CD138-selected cytogenetics and FISH |
| Biopsy of plasmacytoma, if present | |
| Target organ or fat pad, minor salivary gland or rectum aspirate, for Congo red stain, immunofluorescence and, if available, EM. Typing of amyloid needs to be performed for accurate precursor protein identification. |
CBC = cell blood count; EM = electron microscopy; FISH = fluorescent in situ hybridization; FLC = serum free light chain; IFE = immunofixation; IHC = immunohistochemistry; LC-MS = liquid chromatography mass spectrometry; LDH = lactate dehydrogenase; MM = multiple myeloma; PET/CT = positron emission tomography/computed tomography; SPEP = serum protein electrophoresis; UPEP = urine protein electrophoresis; other abbreviations as in Table 2.
Transthyretin (TTR) gene sequencing should be performed in patients where familial transthyretin amyloidosis is in the differential diagnosis and/or if transthyretin amyloidosis is diagnosed.
Factor X absorption onto amyloidosis can lead to PTT prolongation and bleeding diathesis.
As needed depending on clinical presentation.