Clinical features of genetically characterized types of hereditary angioedema with normal C1 inhibitor: a systematic review of qualitative evidence

Table 3 Mutation, demographics, and gender of patients with HAE-PLG, HAE-ANGPT1, and HAE-KNG1

Described by	Nucleotide change	Type of mutation	Protein change	No. of families	No. of patients	No. of males	No. of females	Age of onset (years)	No. of females impacted by estrogens			Origin of patients
Described by	Nucleotide change	Type of mutation	Protein change	No. of families	No. of patients	No. of males	No. of females		Clear impact	No impact	Not exposed
HAE-PLG
Bork et al. [10]^a	c.988A > G	Missense	p.Lys330Glu	13	60	13	47	30.5 ± 15.5 (5–72) (mean ± SD [range])	6	37	4	Germany
Germenis et al. [54]	c.988A > G	Missense	p.Lys330Glu	3	4	0	4	40,41,75 (from 3/4 pts)	1	2	1	Greece, Bulgaria, Spain
Belbezier et al. [55]	c.988A > G	Missense	p.Lys330Glu	3	8	2	6	23 (6–64) (mean [range])	2	4	0	France
Yakushiji et al. [56]	c.988A > G	Missense	p.Lys330Glu	2	4	1	3	47.3 (mean)	0	3	0	Japan
Bodian et al. [49]	c.988A > G	Missense	p.Lys330Glu	1	1	0	1	21	0	1	0	USA
Recke et al. [50]	c.988A > G	Missense	p.Lys330Glu	1	6	3	3	20–60 (range)	nr	nr	nr	Germany
Bork et al. [51]	c.988A > G	Missense	p.Lys330Glu	1	12	6	6	27 (16–56) (mean [range]; from 7/12 pts)	5	1	0	Germany
Bork et al. [52]^b	c.988A > G	Missense	p.Lys330Glu	9	51	nr	nr	nr	nr	nr	nr	Germany
HAE-ANGPT1
Bafunno et al. [9]	c.807G > T	Missense	p.Ala119Ser	1	4	0	4	“Second decade”	0	4	0	Italy
HAE-KNG1
Bork et al. [11]	c.1136 T > A	Missense	p.Met379Lys	1	6	1	5	35 ± 16.2 (17–55) (mean ± SD [range])^c	2	3	0	Germany

Glu = glutamic acid, HAE-ANGPT1 = HAE with a specific angiopoietin-1 gene mutation, HAE-FXII = HAE with a specific coagulation FXII gene mutation, HAE-KNG1 = HAE with a specific kininogen-1 gene mutation, HAE-PLG = HAE with a specific plasminogen gene mutation, Lys = lysine, Met = methionine, No. = number, Pts = patients, nr = not reported, SD = standard deviation
^aThe same families were published later by Dewald [53]
^bThis article furthermore contains the patients published by Bork et al. [10]
^cRecalculated

ISSN: 1750-1172