Table 4.
Histologic and mass spectrometry methods for diagnosis of ATTR amyloidosis
| Investigation | Sensitivity | Specificity | Aim |
|---|---|---|---|
| Biopsy site | |||
| Sural nerve | 79–80% TTR | High | Detecting amyloid deposits [24, 28, 30] |
| Labial salivary glanda | 91% Val30Met early onset | High | Detecting amyloid deposits [77] |
| Abdominal fat padb | 14–83% | High | Detecting amyloid deposits [78] |
| Heart | ~ 100% | ~ 100% | Detecting amyloid deposits |
| Renal | 92–100% | High | Detecting amyloid deposits [79–82] |
| Skin biopsy | 70% | 100% | Detecting amyloid deposits [49, 50] |
| Pathology test [83] | |||
| Congo red staining | Medium–high | High | Detecting amyloid deposits |
| Polarized microscopy examination | High | High | Green birefringence |
| IHC with anti-TTR antibodies | High | Medium–high | – |
| Immuno-EM with anti-TTR antibodies | High | High | Detecting and typing amyloid fibrils |
| Mass spectrometry tests [84] | |||
| LMD/MS | ~ 100% | High | Determining specific type of amyloid deposits |
Adapted with permission from Adams et al. [85]
ATTR amyloid transthyretin, EM electron microscopy, IHC immunohistochemistry, LMD/MS laser microdissection mass spectrometry-based proteomic analysis, TTR transthyretin
aPortugal and France
bUSA, UK, the Netherlands, Germany, Sweden