From: The patient journey toward a diagnosis of hereditary transthyretin (ATTRv) amyloidosis
Newly diagnosed ATTRv amyloidosis patients N = 141 | Matched controlsa N = 423 | P value | Newly diagnosed ATTRv amyloidosis patients N = 141 | Matched controlsa N = 423 | P value | Newly diagnosed ATTRv amyloidosis patients N = 141 | Matched controlsa N = 423 | P value | Newly diagnosed ATTRv amyloidosis patients N = 141 | Matched controlsa N = 423 | P value | |
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Ocular, and severe organ dysfunction or failure | ||||||||||||
Glaucoma | Vitreous opacity | Renal failure | Organ transplant | |||||||||
N (%) | 21 (14.9) | 53 (12.5) | 0.471 | 12 (8.5) | 18 (4.3) | 0.051 | 28 (19.9) | 24 (5.7) | < 0.001 | 4 (2.8) | 0 (0.0) | < 0.001 |
First evidence occurred, n (%) | 0.285 | 0.208 | < 0.001 | 0.007 | ||||||||
No evidence | 120 (85.1) | 370 (87.5) | 129 (91.5) | 405 (95.7) | 113 (80.1) | 399 (94.3) | 137 (97.2) | 423 (100.0) | ||||
Pre Y1 | 1 (0.7) | 0 (0) | 2 (1.4) | 3 (0.7) | 13 (9.2) | 4 (0.9) | 2 (1.4) | 0 (0) | ||||
Pre Y2 | 1 (0.7) | 1 (0.2) | 2 (1.4) | 4 (0.9) | 6 (4.3) | 6 (1.4) | 1 (0.7) | 0 (0) | ||||
Pre Y3 | 3 (2.1) | 9 (2.1) | 4 (2.8) | 2 (0.5) | 2 (1.4) | 3 (0.7) | 0 (0) | 0 (0) | ||||
Pre Y4 | 1 (0.7) | 10 (2.4) | 2 (1.4) | 3 (0.7) | 2 (1.4) | 3 (0.7) | 1 (0.7) | 0 (0) | ||||
Pre Y5 | 15 (10.6) | 33 (7.8) | 2 (1.4) | 6 (1.4) | 5 (3.5) | 8 (1.9) | 0 (0) | 0 (0) |
Gastrointestinal | ||||||||||||
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Diarrhea | Constipation | Nausea/vomiting | Weight loss | |||||||||
N (%) | 25 (17.7) | 47 (11.1) | 0.041 | 35 (24.8) | 49 (11.6) | < 0.001 | 38 (27.0) | 55 (13.0) | < 0.001 | 19 (13.5) | 30 (7.1) | 0.020 |
First evidence occurred, n (%) | 0.352 | 0.005 | < 0.001 | 0.003 | ||||||||
No evidence | 116 (82.3) | 376 (88.9) | 106 (75.2) | 374 (88.4) | 103 (73.0) | 368 (87.0) | 122 (86.5) | 393 (92.9) | ||||
Pre Y1 | 5 (3.5) | 8 (1.9) | 11 (7.8) | 11 (2.6) | 6 (4.3) | 5 (1.2) | 10 (7.1) | 5 (1.2) | ||||
Pre Y2 | 4 (2.8) | 11 (2.6) | 9 (6.4) | 14 (3.3) | 4 (2.8) | 15 (3.5) | 0 (0) | 7 (1.7) | ||||
Pre Y3 | 6 (4.3) | 11 (2.6) | 5 (3.5) | 5 (1.2) | 8 (5.7) | 17 (4.0) | 3 (2.1) | 6 (1.4) | ||||
Pre Y4 | 5 (3.5) | 6 (1.4) | 5 (3.5) | 11 (2.6) | 9 (6.4) | 8 (1.9) | 2 (1.4) | 6 (1.4) | ||||
Pre Y5 | 5 (3.5) | 11 (2.6) | 5 (3.5) | 8 (1.9) | 11 (7.8) | 10 (2.4) | 4 (2.8) | 6 (1.4) |
Musculoskeletal and cardiovascular | ||||||||||||
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Spinal stenosis | Carpal tunnel | Congestive heart failure | Hypotension | |||||||||
N (%) | 23 (16.3) | 43 (10.2) | 0.049 | 13 (9.2) | 28 (6.6) | 0.030 | 33 (23.4) | 25 (5.9) | < 0.001 | 26 (18.4) | 26 (6.1) | < 0.001 |
First evidence occurred, n (%) | 0.012 | 0.104 | < 0.001 | < 0.001 | ||||||||
No evidence | 118 (83.7) | 380 (89.8) | 128 (90.8) | 395 (93.4) | 108 (76.6) | 398 (94.1) | 115 (81.6) | 397 (93.9) | ||||
Pre Y1 | 3 (2.1) | 16 (3.8) | 4 (2.8) | 4 (0.9) | 11 (7.8) | 6 (1.4) | 11 (7.8) | 6 (1.4) | ||||
Pre Y2 | 5 (3.5) | 6 (1.4) | 2 (1.4) | 6 (1.4) | 6 (4.3) | 3 (0.7) | 5 (3.5) | 6 (1.4) | ||||
Pre Y3 | 3 (2.1) | 6 (1.4) | 3 (2.1) | 2 (0.5) | 7 (5.0) | 3 (0.7) | 3 (2.1) | 5 (1.2) | ||||
Pre Y4 | 2 (1.4) | 8 (1.9) | 4 (2.8) | 8 (1.9) | 6 (4.3) | 4 (0.9) | 2 (1.4) | 4 (0.9) | ||||
Pre Y5 | 10 (7.1) | 7 (1.7) | 0 (0) | 8 (1.9) | 3 (2.1) | 9 (2.1) | 5 (3.5) | 5 (1.2) |
Cardiovascular (continued) | ||||||||||||
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Dyspnea | Ventricular hypertrophy | Hypertrophic cardiomyopathy | Restrictive cardiomyopathy | |||||||||
N (%) | 70 (49.6) | 109 (25.8) | < 0.001 | 28 (19.9) | 24 (5.7) | < 0.001 | 8 (5.7) | 2 (0.5) | < 0.001 | 11 (7.8) | 8 (1.9) | < 0.001 |
First evidence occurred, n (%) | < 0.001 | < 0.001 | 0.003 | < 0.001 | ||||||||
No evidence | 71 (50.4) | 314 (74.2) | 113 (80.1) | 399 (94.3) | 133 (94.3) | 421 (99.5) | 130 (92.2) | 415 (98.1) | ||||
Pre Y1 | 9 (6.4) | 15 (3.5) | 8 (5.7) | 6 (1.4) | 3 (2.1) | 1 (0.2) | 1 (0.7) | 0 (0) | ||||
Pre Y2 | 12 (8.5) | 15 (3.5) | 6 (4.3) | 6 (1.4) | 2 (1.4) | 0 (0) | 4 (2.8) | 0 (0) | ||||
Pre Y3 | 9 (6.4) | 21 (5.0) | 5 (3.5) | 6 (1.4) | 1 (0.7) | 1 (0.2) | 1 (0.7) | 2 (0.5) | ||||
Pre Y4 | 15 (10.6) | 16 (3.8) | 4 (2.8) | 1 (0.2) | 1 (0.7) | 0 (0) | 3 (2.1) | 0 (0) | ||||
Pre Y5 | 25 (17.7) | 42 (9.9) | 5 (3.5) | 5 (1.2) | 1 (0.7) | 0 (0) | 2 (1.4) | 6 (1.4) |
Nervous system and metabolic | |||||||||
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Neuropathy | Incontinence | Diabetes | |||||||
N (%) | 37 (26.2) | 25 (5.9) | < 0.001 | 20 (14.2) | 23 (5.4) | < 0.001 | 56 (39.7) | 107 (25.3) | 0.001 |
First evidence occurred, n (%) | < 0.001 | 0.005 | 0.022 | ||||||
No evidence | 104 (73.8) | 398 (94.1) | 121 (85.8) | 400 (94.6) | 85 (60.3) | 316 (74.7) | |||
Pre Y1 | 17 (12.1) | 7 (1.7) | 2 (1.4) | 2 (0.5) | 4 (2.8) | 8 (1.9) | |||
Pre Y2 | 7 (5.0) | 4 (0.9) | 1 (0.7) | 4 (0.9) | 6 (4.3) | 12 (2.8) | |||
Pre Y3 | 6 (4.3) | 4 (0.9) | 5 (3.5) | 2 (0.5) | 4 (2.8) | 3 (0.7) | |||
Pre Y4 | 1 (0.7) | 3 (0.7) | 6 (4.3) | 7 (1.7) | 10 (7.1) | 16 (3.8) | |||
Pre Y5 | 6 (4.3) | 7 (1.7) | 6 (4.3) | 8 (1.9) | 32 (22.7) | 68 (16.1) |