Table 3.
Clinical characteristic 7 of 41 (17.1%) patients without confirmation of disease-associated variants by Sanger sequencing genotyping and MLPA analysis
| No. family | No. of case | Sex | Age | aC1- INH (g/l) |
fC1- INH (%) |
aC4 (g/l) |
C1-INH-HAE type | Family history (yes/no) |
Score (0-3) |
Age of onset/ location of symptoms |
Detected polymorphism |
|---|---|---|---|---|---|---|---|---|---|---|---|
| V | 9 | F | 23 | 0.06 | 19.4 | 0.04 | I | Yes | 3 | 4/abdomen | exon 8: rs4926. c.1438G>A (p.Val480Met) in heterozygous state |
| XIII | 22 | M | 67 | 0.08 | 47 | 0.12 | I | No | 1 | 20/foot | exon 8: rs4926. c.1438G>A (p.Val480Met) in heterozygous state |
| XIV | 23 | F | 49 | 0.048 | 13.6 | 0.11 | I | Yes | 2 | 15/abdomen | exon 8: rs4926. c.1438G>A (p.Val480Met) in heterozygous state |
| XV | 24 | F | 53 | 0.048 | 23 | 0.07 | I | No | 2 | 5/abdomen | exon 8: rs4926. c.1438G>A (p.Val480Met) in heterozygous state |
| XII | 26 | F | 47 | 0.1 | 46 | 0.07 | I | Yes | 2 | 24/abdomen | exon 8: rs4926. c.1438G>A (p.Val480Met) in heterozygous state |
| XVIII | 27 | F | 34 | 0.02 | 30.4 | 0.03 | I | Yes | 3 | 10/abdomen | exon 8: rs4926. c.1438G>A (p.Val480Met) in heterozygous state |
| XXVII | 37 | M | 75 | 0.05 | 10 | 0.03 | I | No | 2 | 62/face | exon 8: rs4926. c.1438G>A (p.Val480Met) in heterozygous state |
| Total | 6 F 2 M |
0.6 | 27.3 | 0.1 | Yes – 4 No – 3 |
0-3 (median, 2.0) |
4-62 (mean, 21.1) |
aC1-INH – serum level of C1-INH (normal range, 0.2-0.39 g/l), fC1-INH – activity of C1-INH in plasma (normal range, 70-130%), aC4 – serum level of C4 (normal range, 0.1-0.4 g/l)