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Table 3 Age-related phenotypes of ENG and ACVRL1-HHT patients

From: Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

 

ENG

      

ACVRL1

      

Age (years)

0–5

6–11

12–19

20–39

40–59

60-

Total (%)

0–5

6–11

12–19

20–39

40–59

60-

Total (%)

No of patients

14

16

10

43

52

27

162

3

3

6

21

39

25

97

Curaçao criteria (N = 259)

 Definite

6

11

8

38

51

27

141 (87.0)

1

1

4

15

39

25

85 (87.6)

 Probable

3

4

2

5

1

0

15 (9.3)

1

1

2

4

0

0

8 (8.2)

 Unlikely

5

1

0

0

0

0

6 (3.7)

1

1

0

2

0

0

4 (4.1)

Clinical presentation

 Epistaxis (N = 259)

9

14

10

43

52

28

156 (96.3)

1

2

6

19

39

25

92 (94.8)

 Telangiectasia (N = 259)

1

5

8

30

45

27

116 (71.6)

0

0

3

11

39

25

78 (80.4)

 AVMs of organs (N = 252)

7

13

10

35

47

25

137(84.6)

0

1

2

14

36

24

77 (79.3)

  Pulmonary (N = 251)

4

11

10

32

37

18

112 (69.1)

0

1

0

5

6

2

14 (14.4)

  Brain (N = 245)

5

9

5

14

12

10

55 (34.0)

0

0

1

1

3

0

5 (5.2)

  Hepatic (N = 199)

0

1

2

9

20

19

51 (31.5)

0

1

2

12

34

22

71 (73.2)

  Spinal (N = 102)

0

2

0

0

1

1

4 (2.5)

0

0

0

0

1

0

1 (1.0)

 GI tract (N = 97)

0

0

0

1

11

12

24 (14.8)

0

0

0

0

14

12

26 (26.8)

  Esophageal

0

0

0

0

0

1

1 (0.6)

0

0

0

0

1

0

1 (1.0)

  Gastric

0

0

0

0

10

11

21 (13.0)

0

0

0

0

14

12

26 (26.8)

  Duodenal

0

0

0

1

2

2

5 (3.1)

0

0

0

0

3

2

5 (5.2)

  Colonic

0

0

0

0

2

5

7 (4.3)

0

0

0

0

3

1

4 (4.1)