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Table 2 Characteristics of 542 ATTR-PN cases

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

  All Ala97Ser Phe64Leu Ser77Tyr Val30Met Other
N 542 35 24 54 258 171
% of Sample (100%) (6.5%) (4.4%) (10.0%) (47.6%) (31.5%)
% from Endemica 17.9% 0.0% 0.0% 0.0% 37.6% 15.8%
% Male 68.6% 85.7% 79.2% 74.1% 69.0% 61.4%
Disease Milestones Mean (SD, IQR) [years]
Onset 61.5 (11.5; 8.4) 58.5 (8.0; 6.4) 67.5 (8.8; 5.2) 51.6 (12.0; 8.2) 64.0 (12.0; 8.1) 49.2 (21.0; 14.7)
Diagnosis 64.2 (13.6; 9.6) 58 (2.0; 2.2) 71.3 (8.8; 5.4) 57.7 (9.5; 6.4) 68.1 (8.1; 6.7) 53.4 (21.0; 14.7)
Death 66.3 (14.0; 9.9) 58.5 (5.8; 4.2) 71.0 (9.5; 7.4) 65.7 (15.3; 10.1)
Onset to Diagnosis 2.9 (3.2; 2.1) 8.6 (3.0; 2.1) 3.8 (2.0; 1.8) 2.3 (2.7; 1.5) 3.0 (3.4; 2.4) 2.7 (3.0; 2.2)
Diagnosis to Death 1.9 (2.0; 1.4) 1.1 (1.1; 0.6) 2.1 (1.9; 1.3) 2.1 (1.8; 1.4)
Onset to Death 5.0 (3.0; 2.4) 3.9 (2.8; 2.1) 5.9 (4.0; 2.8) 5.4 (2.8; 1.8)
  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. Refer to Additional file 1: Appendix B for data used to generate disease milestone outcomes. IQR is inter-quartile range. SD is standard deviation
  2. aJapan, Portugal, and Sweden were categorized as endemic countries