Table 1.
Cohort descrip0074ion
| 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 |
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.