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Table 3 Clinical Characteristics at Presentation

From: Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series

Feature All Ala97Ser Phe64Leu Ser77Tyr Val30Met Other
Any Reported 374 (69%) 35 (9%) 22 (6%) 48 (13%) 141 (38%) 128 (34%)
Autonomic 199 (53%) 27 (77%) 18 (82%) 5 (10%) 74 (52%) 75 (59%)
 Unspecified 47 0 7 1 22 17
 Urinary 36 7 3 0 16 10
 Gastrointestinal 114 22 6 3 39 44
 Cardio 96 15 7 1 34 39
 Respiratory 3 0 0 0 0 3
 Impotence 51 18 5 1 13 14
 Sweat 20 7 3 1 4 5
Sensory 326 (87%) 25 (71%) 22 (100%) 45 (94%) 127 (90%) 107 (84%)
 Unspecified 76 21 5 0 25 25
 Lower Limbs 219 2 15 37 100 65
 Upper Limbs 133 2 10 35 48 38
 Carpal Tunnel 42 4 4 0 7 27
Motor 215 (57%) 10 (29%) 15 (68%) 32 (67%) 79 (56%) 79 (62%)
 Unspecified 67 9 4 0 33 21
 Lower Limbs 138 0 11 28 46 53
 Upper Limbs 83 1 10 10 33 29
 Other 1 0 0 0 0 1
Miscellaneous 155 (41%) 4 (11%) 17 (77%) 14 (29%) 39 (28%) 81 (63%)
 Cardiomyopathy 93 4 15 2 28 44
 Visual (Non-Motor) 49 0 2 13 9 25
 Weight Loss 35 0 2 2 9 22
  1. Specific genotypes shown are those with ≥4% representation among the included cases. Genotypes with < 4% representation are listed as “Other”. Refer to Additional file 1: Appendix A for a list of genotypes included in the “Other” category