Table 2 Characteristics of 126 hATTR cases
From: Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China
| Â | All | Gly83Arg | Val30Met | Val30Ala | Leu55Arg | Ala36Pro | Lys35Thr | Gly47Arg | Asp18Gly | Gly47Glu | Ala117Ser | Othera |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
(p.Gly103Arg) | (p.Val50Met) | (p.Val50Ala) | (p.Leu75Arg) | (p.Ala56Pro) | (p.Lys55Thr) | (p.Gly67Arg) | (p.Asp38Gly) | (p.Gly67Glu) | (p.Ala137Ser) | |||
N | 126 | 25 | 20 | 10 | 9 | 9 | 8 | 6 | 6 | 6 | 4 | 23 |
% of samples | 100.0% | 19.8% | 15.9% | 7.9% | 7.1% | 7.1% | 6.3% | 4.8% | 4.8% | 4.8% | 3.2% | 18.3% |
% Male | 87Â (69.0%) | 13 (52.0%) | 15 (75.0%) | 4 (40.0%) | 7 (77.8%) | 7 (77.8%) | 5 (62.5%) | 5 (83.3%) | 4 (66.7%) | 6 (100.0%) | 3 (75.0%) | 18 (78.3%) |
% Family history | 104 (82.5%) | 25 (100.0%) | 11 (55.0%) | 10 (100.0%) | 9 (100.0%) | 6 (66.7%) | 8 (100.0%) | 5 (83.3%) | 6 (100.0%) | 6 (100.0%) | 2 (50.0%) | 16 (69.6%) |
Age at presentation onset, years | 41.8 (SD: 8.9) | 39.4 (SD: 4.1) | 47.0 (SD: 8.6) | 33.0 [IQR: 9.5] | 33.9 (SD: 5.4) | 40.0 [IQR: 19.0] | 44.3 (SD: 2.9) | 29.5 [IQR: 8.0] | 31.0 [IQR: 14.5] | 40.0 (SD: 6) | 60.8 (SD: 4.8) | 40.3 (SD: 8.2) |
Late -onset, n (%) | 23 (18.3%) | 9 (36.0%) | 6 (30.0%) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (100.0%) | 4 (17.4%) |
Time from presentation onset to diagnosis, years | 5.9 (SD: 3.6) | 8.5 (SD: 5.3) | 8.6 (SD: 2.3) | 2.0 [IQR: 4.0] | 6.3 (SD: 2.3) | 2 (SD: 0.9) | 2.4 (SD: 0.6) | 3 (SD: 0.8) | 4.5 (SD: 0.5) | 3.5 (SD: 0.5) | 3.5 (SD: 1.5) | 4.6 (SD: 2.9) |
Age at Death, years | 47.2 (SD: 10.2) |  | 54.3 (SD: 3.8) | 37.0 [IQR: 5.5] | 58.0 [IQR: 15.0] | 58.7 (SD: 1.8) | 57.7 (SD: 3.1) | 33.0 [IQR: 4.0] | 39 (SD: 4.0) | 45.5 (SD: 6.5) | – | 39 [IQR: 4.0] |
Time from presentation Onset to death, years | 7.5 [IQR: 5.3] | – | 8.7 (SD: 0.6) | 4.0 [IQR: 4.0] | 27.0 [IQR: 16.0] | 10 (SD: 1.3) | 12.7 (SD: 4.0) | 4.7 [IQR: 1.5] | 6.0 [IQR: 13.5] | 4.5 [IQR: 1.0] | – | 4.5 [IQR: 1.0] |