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Table 1 Characteristics of patients with ATTRv amyloidosis: examples from the published literature

From: Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal

Variable

Japan

Brazil

Portugal

Sweden (Norrbotten)

Spain (Majorca)

Greece (outside Crete)

Italy (Lazio)

France

US (Minnesota)

China

Taiwan

Singapore

Male sex, %

65.3

52.5

56.0

68.8

50.7

66.7

63.0

61.7

79.3

77.8

69.6

58.6

Early-onset patients, %

29.2

NA

71.3

8.6

NA

NA

17.0

26.7

NA

46.3

NA

17.2

Late-onset patients, %

61.2

NAa

28.7

91.4

NA

NA

83.0

73.3

NA

53.7

NA

82.8

Median age at onset or diagnosis, years

NA

32.5

38

72.8

NA

NA

NA

NA

59.6

NA

NA

57

Mean age at onset or diagnosis, years

NA

NA

42.8

70.4

49.8

51.1

NA

NA

NA

47.8

58.2

NA

Val30Met mutation, %

65.0b

91.9

NA

95.7

100

44.4

53.0

58.3

15.8

22.2

0

13.8

Non-Val30Met mutation, %

34.5b

8.1

NA

4.3

0

55.6

47.0

41.7

84.2

77.8

100

86.2

Positive family history of ATTRv amyloidosis, %

57.5

90.6

NA

61.3

69.3

44.4

58.0

60.0

47.7

56.4

79.7

75.9

References

[29]

[30]

[31]

[32]

[33]

[34]

[35]

[36]

[37]

[38]

[39]

[40]

  1. The number of patients assessed in each publication (Japan, 219; Brazil, 160; Portugal, 500; Sweden [Norrbotten], 93; Spain [Majorca], 75; Greece [outside the island of Crete], 27; Italy [Lazio], 100; France, 60; US [Minnesota], 266; China, 54; Taiwan, 79; Singapore, 29) does not represent the total number of patients with ATTRv amyloidosis in each country or region
  2. aAccording to the THAOS Registry data, among 137 patients with the Val30Met mutation in Brazil, 40 (29.2%) were late-onset patients [24].
  3. bOne patient (0.5%) underwent genetic testing, but mutation data were not available
  4. ATTRv hereditary transthyretin, NA not available, THAOS Transthyretin Amyloidosis Outcomes Survey, US United States