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Table 3 Results of diagnostic blood samples in 22 children with HAE

From: Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

ID

sex

Born

Age at onset/diagnosis

Cord blood samples [reference values for adults]

Peripheral complement measurements [reference values for adults]

Genetic testingb

HAE1

f

1995

5/6 y

n.d.

6 y

fC1INH 34 [70–130]%

8.8 y

C1INH 0.15 [0.21–0.39]g/L

fC1INH 55 [70–130]%

C4 0.13 [0.1–0.4]g/L

11.6 y

C1INH 129 [210–345]mg/L

fC1INH 9.2 [17.2–27.4]U/ml

C4 120 [157–257]U/mg

11.6 y

c.437delT, p.Leu124TrpfsTer2

HAE2

f

1995

5/6.3 y

Complement values reported as normal (missing)

6.3 y

fC1INH 33 [70–130]%

9.5 y

C1INH 0.05 [0.21–0.39]g/L

fC1INH < 20 [70–130]%

C4 0.08 [0.1–0.4]g/L

 

n.d.

HAE3

m

1996

4/4 y

n.d.

2 y

fC1INH 34 [70–130]%

6.8 y

C1INH 0.05 [0.21–0.39]g/L

fC1INH 122 [70–130]%

C4 0.07 [0.1–0.4]g/L

8.5 y

C1INH 0.06 [0.21–0.39]g/L

fC1INH 23 [70–130]%

n.d.

HAE4

f

1996

1/2 y

n.d.

2 y

fC1INH 22 [70–130]%

9.7 y

C1INH 0.06 [0.21–0.39]g/L

fC1INH 39 [70–130]%

C4 0.07 [0.1–0.4]g/L

 

9.8 y

c.23dupT, X19 in signal peptide

HAE5a

f

1999

11/13.2 y

n.d.

13.2 y

C1INH <25 [72–153]%

fC1INH 27 [70–130]%

C4 0.05 [0.16–0.38]g/L

13.5 y

C1INH 0.08 [0.21–0.39]g/L

fC1INH 46 [70–130]%

C4 < 0.06 [0.1–0.4]g/L

 

13.7 and 15.1 y

No SERPING1 mutation found

HAE6

m

2000

3/3 y

n.d.

2.3 y

C1INH 0.09 [0.21–0.39]g/L

fC1INH 47 [70–130]%

C4 0.2 [0.49–1.66]g/L

  

n.d.

HAE7a

m

2000

4/8.8 y

n.d.

8.8 y

C1INH 0.07 [0.21–0.39]g/L

fC1INH 32 [70–130]%

C4 0.07 [0.1–0.4] g/L

  

9.8 y

c.1030_1503del, deletion of exons 7 and 8

HAE8a

f

2000

4/6.8 y

n.d.

6.8 y

fC1INH 20 [70–130]%

C4 < 0.04 [0.1–0.4]g/L

6.9 y

C1INH 0.14 [0.21–0.39]g/L

fC1INH 21 [70–130]%

C4 < 0.04 [0.1–0.4]g/L

 

7.5 y

c.1381G > C, p.Ala439Pro

HAE9

f

2001

10/1.6 y

C1INH 0.07 g/L [0.21–0.39]

fC1INH 32% [70–130]

C4 0.15 g/L [0.1–0.4]

1.6 y

C1INH 0.12 [0.21–0.39]g/L

C4 0.08 [0.1–0.4]g/L

2.8 y

fC1INH 49 [70–130]%

7.3 y

C1INH 0.13 [0.21–0.39]g/L

fC1INH 50 [70–130]%

C4 0.08 [0.1–0.4]g/L

n.d.

HAE10

f

2004

4.2/4.7 y

n.d.

4.7 y

C1INH 0.06 [0.21–0.39]g/L

fC1INH 32 [70–130]%

4.8 y

C1INH 61 [210–345]mg/L

fC1INH <2 [17.2–27.4]U/ml

C4 68 [157–257]mg/L

 

4.8 y

c.551_685del, deletion of exon 4

HAE11

m

type II

2004

-/5.7 y

n.d.

5 y

C1INH 0.44 [0.21–0.39]g/L

fC1INH 56 [70–130]%

C4 0.07 [0.1–0.4]g/L

5.7 y

C1INH 0.34 [0.21–0.39]g/L

fC1INH 37 [70–130]%

 

6.3 y

c.1397G > A, p.Arg444His

HAE12

m

2006

4/4.4 y

C1INH 0.05 [0.21–0.39]g/L

C4 0.08 [0.1–0.4]g/L

4.4 y

fC1INH 37 [70–130]%

C4 0.1 [0.1–0.4]g/L

  

4.5 y

c.1417G > A, p.Val451Met

HAE13

m

2006

5.4/3.8 y

fC1INH 32 [70–130]%

1.3 y

fC1INH 69 [70–130]%

C4 0.11 [0.1–0.4]g/L

2.6 y

C4 0.08 [0.1–0.4]g/L

 

3.8 y

c.668_669delA, p.Gln201fsTer10

HAE14

m

2008

3.3/2.7 y

C1INH <0.03 [0.21–0.39]g/L

fC1INH <20 [70–130]%

C4 0.05 [0.1–0.4]g/L

1.1 y

C1INH <0.25 [0.21–0.39]g/L

fC1INH 65 [70–130]%

C4 0.04 [0.1–0.4]g/L

  

2.7 y

c.1-22-2A > G, splicing defect

HAE15

m

2009

-/5.3 y

n.d.

2.4 y

C1INH 0.16 [0.21–0.39]g/L

fC1INH 65 [70–130]%

C4 0.2 [0.1–0.4]g/L

4.4 y

C1INH 0.07 [0.21–0.39]g/L

fC1INH 83 [70–130]%

C4 0.07 [0.1–0.4]g/L

 

5.3 y

c.1250-1G > A, splicing defect

HAE16

m

2009

3.8/1 y

C1INH <0.03 [0.21–0.39]g/L

C4 0.04 [0.1–0.4]g/L

1 y

C1INH 0.13 [0.21–0.39]g/L

fC1INH 52 [70–130]%

C4 0.11 [0.1–0.4]g/L

  

1.7 y

c.551_685del, deletion of exon 4

HAE17

m

type II

2012

-/2.8 y

n.d.

   

2.8 y

c.1396 C > T, p.Arg444Cys

HAE18

m

2012

-/2.1 y

n.d.

   

2.1 y

c.762_763delCA, p.Asn232LysfsTer2

HAE19

m

2012

-/1.8 y

fC1INH 20 [70–130]%

0.9 y

C1INH 0.10 [0.21–0.39]g/L

fC1INH 56 [70–130]%

C4 0.08 [0.1–0.4]g/L

  

1.8 y

c.1250-1G > A

HAE20

m

2013

-/0.5 y

C1INH 0.08 [0.21–0.39]g/L

C4 0.14 [0.1–0.4]g/L

   

0.5 y

c.1-22-2A > C, splicing defect

HAE21

f

type II

2015

-/0 y

Genetic testing, mutation

found

   

0 y

c.1396 C > T, p.Arg444Cys

HAE22

m

2016

-/0 y

Genetic testing, mutation

found

   

0 y

c.762_763delCA, p.Asn232LysfsTer2

  1. Complement values were equivocal (bold font) or low compared with adult normal range
  2. N.d. not determined. - asymptomatic
  3. asporadic HAE (no family history)
  4. bamino acid numbering based on the mature protein (Genbank accession number #NM_000062)