Table 2

Summary of patient and family member details including results of clinical evaluation, measurement of plasma levels of C1 inhibitor, C4 and C3, symptoms, and score indicating level of clinical severity: 0 is unaffected and 10 is fatal.

Patient	Age	Clinical details			Family history	C3 levels	C4 levels	Score	Variant
Patient	Age	LO	IO	CO	Family history	C3 levels	C4 levels	Score	Variant
LO, laryngeal oedema; IO, intestinal oedema; CO, cutaneous (peripheral) oedema.
All individuals with a clinical score ≥0.5 had a C1 inhibitor level below the reference range except R-1 and R-2, who had type II HAE.
NK indicates the results were unavailable.
L-1	54	+++	+	+	No	Normal	Low	9	t566c. Exons VII & VIII deleted
L-2	24	−	−	+	Yes	Normal	Low	1	Met458. Exons VII & VIII deleted
L-3	22	Asymptomatic			Yes	Normal	Low	0.5	Exons VII & VIII deleted
S-1	59	−	++	+	Yes	Normal	Low	6	t566c
S-2	34	−	−	+	Yes	Normal	Low	1
S-3	19	−	+	+	Yes	Normal	Very low	5
S-4		Asymptomatic			Yes	Normal	Low	0.5
B-1	45	−	+	+	Yes	Normal	Low	4	Exons IV, V & VI deleted
B-2	13	Asymptomatic			Yes	Normal	Low	0.5	Exons IV, V & VI deleted
P-1	73	+	++	++	NK	Normal	Low	7	g14030a
P-2	43	−	+	++	Yes	Normal	Low	4	g14030a
D-1	32	+	++	−	Yes	Normal	Low	7
V-1	39	−	+	++	Yes	Normal	Low	4	Met458. 4bp deletion (2458-2461)
V-2	28	−	++	++	Yes	Normal	Low	5	Val458Met. 4bp deletion (2458-2461)
V-3	36	−	+++	++	Yes	Normal	Low	6	Val458Met. 4bp deletion (2458-2461)
V-4	16	Asymptomatic			Yes	Normal	Normal	0	Val458Met
V-5	60	−	+	++	Yes	Normal	Low	2	Val458Met. 4bp deletion (2458-2461)
Dr-1	56	+	+	++	NK	Normal	Low	7
C-1	32	−	+	++	No	Normal	Low	6	Exons VII & VIII deleted
Cl-1	34	−	++	+	Yes	Normal	Low	4
W-1	56	Asymptomatic			No	Normal	Low	0.5	Thr285Ala, a14011g. Val458Met
W-2	30	−	++	++	No	Normal	Low	6	Thr285Ala, a14011g Val458Met, t566c
G-2	21	−	+	++	No	Normal	Normal	4	t566c
R-1	35		+	++	Yes	Normal	Low	4	Arg444His
R-2	62	+	+	++	No	Normal	Low	7	Arg444His
N-1	48	−	+	+	No	Normal	Low	3	Thr285Ala, g14011. Val458Met
By-1	17	+	+	++	No	Normal	Low	7
By-2	35	Unaffected			No	Normal	Normal	0
J-1	21	−	−	++	Yes	Normal	Low	4
Sh-1	21	−	−	++	Yes	Normal	Low	2