Table 1.
Characteristics of patients with ATTRv amyloidosis and presymptomatic carriers
| Symptomatic ATTRv amyloidosis | Presymptomatic carriers | |
|---|---|---|
| Age (mean ± SEM, years) | 64.1 ± 2.9 | 40.4 ± 2.8 |
| Sex | 15 male, 5 female | 2 male, 3 female |
| Phenotype | 6 ATTRv-CM, 14 ATTRv-PN | – |
| TTR mutation (number of individuals) | ||
| p.Val50Met | ||
| p.Ile88Leu | 6 | 2 |
| p.Leu78His | 3 | – |
| p.Arg54Gly | 2 | 1 |
| p.Ala65Thr | 1 | – |
| p.Ala65Val | 1 | – |
| p.Ser43Asn | 1 | – |
| p.Ile127Val | 1 | – |
| p.Val114Ala | 1 | 1 |
| p.Glu81Lys | 1 | 1 |
| p.Phe84Leu | 1 | – |
| p.Val142Ile | 1 | – |
| 1 | – | |
| Coutinho stages (ATTRv-PN), count (percentage) |
Stage 1: 11 (78.6%) Stage 2: 3 (21.4%) |
Stage 0: 100% |
| Years from symptom onset of index patient (mean ± SEM, years) | – | 19.8 ± 5.6 |
| Neuropathic pain, count (percentage) | 12 (60.0%) | – |
| Autonomic symptoms, count (percentage) | 10 (50.0%) | – |
| Orthostatic hypotension | 6 (30.0%) | |
| Diarrhea/constipation | 6 (30.0%) | |
| Erectile dysfunction | 3 (15.0%) | |
| Bladder dysfunction | 3 (15.0%) | |
| Treatment at the time of examination, count (percentage) | ||
| Tafamidis | 8 (40.0%) | – |
| Patisiran | 10 (50.0%) | – |
| Inotersen | 2 (10.0%) | – |