Table 1.
Main characteristics of the study cohort.
| A-ATTR-V30M patients (n = 29) | V30M asymptomatic carriers (n = 31) | Healthy controls (n = 30) | |
|---|---|---|---|
| Median age (range) | 69 years (29–86) | 48 years (21–81) | 43 years (20–73) |
| Females (%) | 11 (37.9%) | 18 (58.1%) | 18 (60%) |
| mean eGFR (SD) | 74.3 mL/min (21.2) | 92.6 mL/min (16.7) | |
| Mean Total proteins (SD) | 7.2 g/dL(0.5) | 7.2 g/dL (0.4) | |
| Mean serum Albumin (SD) | 4.3 g/dL (0.3) | 4.5 g/dL (0.3) | |
| Median NIS (range) | 8 (0–96) | ||
| PND | |||
| 0 | 4 (13.8%) | ||
| I | 17 (58.6%) | ||
| III | 6 (20.7%) | ||
| IV | 2 (6.9%) | ||
| FAP | |||
| 0 | 4 (13.8%) | ||
| 1 | 17 (58.6%) | ||
| 2 | 6 (20.7%) | ||
| 3 | 2 (6.9%) | ||
| Clinical phenotype | |||
| Neurological early onset | 5 (17.2%) | ||
| Neurological late onset | 20 (69.0%) | ||
| Cardiological | 4 (13.8%) | ||
| Treatment | |||
| Tafamidis | 8 (31.0%) | ||
| Patisiran | 12 (41.4%) | ||
| Inotersen | 2 (6.9%) | ||
| No treatment | 6 (20.7%) |