Skip to main content

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