Table 1 Main characteristics of the study cohort.
From: Biomarkers of axonal damage to favor early diagnosis in variant transthyretin amyloidosis (A-ATTRv)
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%) |
