Skip to main content

Table 1 Cohort descrip0074ion

From: Disease-modifying factors in hereditary angioedema: an RNA expression-based screening

Family code

Gender

Age

Arg472Stop

[C1-INH] (mg/dL)

C1-INH activity (% of NHP)

Symptoms

Treatment needed

Severity score

Severity degree

Family AR

         

ARO

F

37

Yes

8.80

31.98

Yes

Androgens

43

Severe

AR2

F

64

Yes

6.84

25.11

Yes

Androgens

48

Severe

AR3

M

26

Yes

4.53

13.36

Yes

Androgens

48

Severe

AR4

M

60

Yes

7.51

25.06

Yes

Androgens

48

Severe

AR5

F

27

Yes

<2.98

21.46

Yes

No

24

Moderate

AR7

F

60

Yes

5.81

18.21

Yes

Androgens

43

Severe

AR8

F

26

Yes

3.56

10.84

Yes

Androgens

49

Severe

AR9

F

40

Yes

3.79

18.28

Yes

No

12

Mild

AR10

M

53

Yes

7.05

34.24

No

No

0

Asymptomatic

AR11

M

30

No

22.30

>100

-

-

-

-

AR12

F

56

No

19.90

>100

-

-

-

-

AR13

F

44

No

25.30

>100

-

-

-

-

AR14

M

51

No

23.90

>100

-

-

-

-

AR15

M

52

No

18.70

>100

-

-

-

-

AR16

M

45

No

25.80

>100

-

-

-

-

AR17

M

47

No

25.30

>100

-

-

-

-

Family DR

         

DR0

F

52

Yes

3.65

24.8

Yes

No

17

Mild

DR1

M

81

Yes

5.72

22.41

No

ACE-i

0

Asymptomatic

DR3

M

32

Yes

5.07

26.70

No

No

0

Asymptomatic

DR4

M

26

Yes

5.49

20.47

No

No

0

Asymptomatic

DR5

F

17

No

24.30

>100

-

-

-

-

DR6

M

75

No

21.50

>100

-

-

-

-

DR7

M

41

No

24.90

>100

-

-

-

-

DR8

F

39

No

18.00

>100

-

-

-

-

DR9

F

37

No

20.30

>100

-

-

-

-

Family Q

         

Q0

M

82

Yes

4.11

10.68

Yes

Androgens

48

Severe

Q3

F

86

Yes

7.61

25.44

No

No

0

Asymptomatic

Q4

F

57

Yes

11.80

40.63

Yes

Androgens

26

Moderate

Q6

F

36

Yes

4.64

16.42

Yes

Androgens

49

Severe

Q7

F

50

Yes

<2.98

9.76

Yes

No

25

Moderate

Q8

F

48

Yes

5.88

16.26

Yes

No

28

Moderate

Q9

F

24

Yes

3.27

14.92

Yes

No

48

Severe

Q10

F

71

Yes

6.28

17.23

No

-

0

Asymptomatic

Q11

M

56

No

21.30

>100

-

-

-

-

Q12

F

44

No

16.05

86.99

-

-

-

-

Q13

M

38

No

26.40

>100

-

-

-

-

Q14

F

47

No

20.30

>100

-

-

-

-

Q15

F

75

Yes

6.34

18.00

Yes

Androgens

25

Moderate

Q16

F

40

Yes

4.78

26.70

Yes

Androgens

27

Moderate

Q17

M

45

Yes

  

Yes

Androgens

25

Moderate

  1. Three HAE families were included in the microarray study: AR (16 members), DR (9 members) and Q (15 members). Treatment received by the patient and the associated severity score at the time of sampling are shown. F: female; M: male; NHP: Normal Human Plasma; ACE-i: Angiotensin Converting Enzyme- inhibitors; *: Not determined.