Table 1.
Patient demographics and disease characteristics by country
| USA n = 44 |
Spain n = 16 |
Total N = 60 |
|
|---|---|---|---|
| Patient characteristics | |||
| Age, years, mean (SD) | 61.7 (10.0) | 49.3 (12.5) | 58.4 (12.0) |
| Male, n (%) | 35 (79.5) | 12 (75.0) | 47 (78.3) |
| Not currently employed, n (%) | 28 (63.6) | 11 (68.8) | 39 (65.0) |
| Unemployed due to ATTR amyloidosis, n (%)a | 20 (71.4) | 5 (45.5) | 25 (64.1) |
| Disease characteristics | |||
| Disease duration, years, mean (SD) | 5.5 (3.4) | 8.2 (4.8) | 6.2 (4.0) |
| Age at onset, years, mean (SD)b | 56.3 (10) | 41.1 (14) | 52.2 (13) |
| Liver transplant, n (%) | 17 (38.6) | 14 (87.5) | 31 (51.7) |
| Family ATTR amyloidosis history, n (%) | 38 (86.4) | 13 (81.3) | 51 (85.0) |
| Family member with ATTR amyloidosis, n (%) | |||
| Mother | 13 (29.5) | 3 (18.8) | 16 (26.7) |
| Father | 17 (38.6) | 7 (43.8) | 24 (40.0) |
| Grandmother | 4 (9.1) | 0 (0.0) | 4 (6.7) |
| Grandfather | 7 (15.9) | 0 (0.0) | 7 (11.7) |
| Brother | 14 (31.8) | 4 (25.0) | 18 (30.0) |
| Sister | 7 (15.9) | 2 (12.5) | 9 (15.0) |
| Cousin | 9 (20.5) | 3 (18.8) | 12 (20.0) |
| Aunt | 9 (20.5) | 4 (25.0) | 13 (21.7) |
| Uncle | 13 (29.5) | 3 (18.8) | 16 (26.7) |
| Otherc | 5 (11.4) | 1 (6.3) | 6 (10.0) |
| Mutation type, n (%) | |||
| Val30Met | 5 (11.4) | 13 (81.3) | 18 (30.0) |
| Wild-type ATTR | 1 (2.3) | 1 (6.3) | 2 (3.3) |
| Phe64Leu | 4 (9.1) | 0 (0.0) | 4 (6.7) |
| Ser77Tyr | 3 (6.8) | 0 (0.0) | 3 (5.0) |
| Thr60Ala | 11 (25.0) | 0 (0.0) | 11 (18.3) |
| Otherd | 5 (11.4) | 0 (0.0) | 5 (8.3) |
| Not sure/don’t know | 4 (9.1) | 2 (12.5) | 6 (10.0) |
| Missing | 11 (25.0) | 0 (0.0) | 11 (18.3) |
SD standard deviation
aLimited to patients who responded that they were unemployed
bAge at disease onset equals age at time of survey minus the number of years experiencing symptoms
c“Other” family member category included 8 uncles and 2 aunts; daughter; multiple in each category except for father and grandmother; niece; son; 2 brothers
dOther genetic type: ARG 50, asp18Glu, TTR amyloidosis t49A; Ser84IL (IN-Swiss Kindred); V 32 A