Table 1.

Characteristics of patients with HAE-nC1-INH (females, except for 2 of the 7 HAE-PLG subjects).

No.	Age range (years)	Genotype variant (all heterozygotes)	Approximate frequency of attacks	Prophylactic treatment	C1-inh (U/ml)*
1a	66–70	F12 T328K	None since menopause	None	0.93
2a	71–75	F12 T328K	None since menopause	None	0.99
3	41–45	F12 T328K	12 per year	Tranexamic acid (used on demand; not in the last 3 weeks)	0.96
4	36–40	F12 T328K	Face and hand oedema during pregnancy; ~1/year outside of pregnancy/OC**	None	0.91
5b	26–30	F12 T328K	Frequent face oedema while on OC. ~1/2.5 year while off OC	None	0.98
6b	36–40	F12 T328K	Frequent face oedema while on OC; 2 episodes required endothacheal intubation; ~1/2.5 year while OFF OC	None	0.91
7b	31–35	F12 T328K	4 episodes of face and tongue oedema during pregnancy; ~1/year while off pregnancy or OC	None	0.93
8b	51–55	F12 T328K	Asymptomatic	N/A	0.95
9	36–40	F12 T328K	Frequent face, tongue, hand, oedema while on OC or pregnant; ~1/year while off OC or pregnancy	None	0.95
10	31–35	F12 T328R	Moderate severity	None	0.97
11	56–60	PLG K330E	Mild severity	None	0.99
12	46–50	PLG K330E	Mild severity	None	0.94
13	71–75	PLG K330E	Mild severity	None	0.99
14c	26–30	PLG K330E	Mild severity	None	0.90
15c	61–65	PLG K330E	Mild severity	None	0.75
16c	31–35	PLG K330E	Mild severity	None	0.70
17c	21–25	PLG K330E	Mild severity	None	0.72
18d	66–70	Unknown, C1-INH and F12 normal	Now rare	None	0.94
19d	41–45	Unknown, C1-INH and F12 normal	6 per year in spite of aggressive prophylaxis	Berinert (last dose: 24 h before sampling); tranexamic acid (stopped 48 h before sampling); icatibant several times/year	1.36
20d	16–20	Unknown, C1-INH and F12 normal	2–3 per year in spite of aggressive prophylaxis	Berinert (last dose: 48 h before sampling); tranexamic acid (stopped 48 h before sampling); icatibant several times/year	1.24

^*normal range 0.70–1.30 U/ml.

^**oral contraception.

^a−dIndividuals with the same superscript letter are related. All the others are unrelated between them.