Table 1.
Clinical characteristics and nailfold capillarography of participants.
| Patient no | Family no | Sex | Age | Smoking hx | ATTRv characteristics | Nailfold capillarography* | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Disease duration, (yr) | Applied treatment and duration (medication, yr) | Mutation | Main clinical presentation | PND score | Ocular manifestation | CTS | Autonomic dysfunction | Capillary density | Dilated capillaries | Giant capillaries | Hemo-rrhage | Ramifi-cation | Archi -tecture |
Total sum score |
|||||
| 1 | F1 | F | 53 | − | 11 | Patisiran, 6 | Lys35Asn | Mixed | 3b |
Vitreous opacity, |
+ | OH, diarrhea | 0.625 | 0.625 | 0 | 0 | 0 | 0.750 | 2.000 |
| 2 | F1 | M | 49 | − | 6 | Tafamidis, 3 | Lys35Asn | Mixed | 1 | None | − | OH, diarrhea | 0.875 | 1.125 | 0 | 0 | 0 | 0.750 | 2.750 |
| 3 | F2 | F | 59 | + | 4 | Tafamidis, 1 | Lys35Asn | Neuropathy | 1 | None | + | OH | 0.750 | 1.500 | 0 | 0 | 0 | 0.875 | 3.125 |
| 4 | F3 | F | 64 | − | 10 | Patisiran, 6 | Asp38Ala | Mixed | 2 |
Vitreous opacity, |
+ | OH, diarrhea | 0.875 | 1.000 | 0 | 0 | 0 | 0.625 | 2.500 |
| 5 | F3 | M | 60 | − | 6 |
Tafamidis,1 then switch to Patisiran, 2 |
Asp38Ala | Mixed | 1 | None | + | OH, diarrhea | 0.625 | 0.750 | 0 | 0 | 0 | 1.250 | 2.625 |
| 6 | F3 | M | 44 | − | (−) | – | Asp38Ala | Asymptomatic carrier | 0 | None | − | None | 3.000 | 0 | 0 | 0.125 | 0 | 3.000 | 6.125 |
| 7 | F4 | M | 51 | + | 8 |
Tafamidis,1 then switch to Patisiran, 2 |
Ala36Pro | Mixed | 2 | None | + | OH | 0.750 | 1.125 | 0 | 0 | 0 | 1.625 | 3.500 |
| 8 | F5 | M | 59 | − | 9 | Patisiran, 1 | Asp38Ala | Mixed | 3a | None | − | OH, diarrhea | 1.500 | 1.25 | 0 | 0 | 0 | 2.500 | 5.250 |
| 9 | F6 | M | 55 | + | 5 | Patisiran, 4 | Asp38Ala | Mixed | 1 | None | − | OH, diarrhea | 0.250 | 1.000 | 0 | 0 | 0 | 1.500 | 2.750 |
PND polyneuropathy disability, CTS carpal tunnel syndrome, OH orthostatic hypotension; * 6 items were measured with three scales on each finger and the average score of the eight fingers was recorded. (Scale 0: no changes; 1: < 33% of capillary alterations/reduction; 2: 33%–66% of capillary alterations/reduction; and 3: > 66% of capillary alterations/reduction).