Table 1.
Czech HAE patient cohort. (A) Numbers of specific groups of HAE patients. (B) C1-INH and C4 concentration and C1-INH function were crucial to establish diagnosis. The lowest values were considered in case of repeated measurements. C1-INH function and concentration in HAE-1 patients were reduced even in asymptomatic patients, i.e. patients diagnosed before symptom onset, typically blood-related to a proband. There were 9 patients (5%) in the whole cohort that showed normal C1-INH function levels even after repeated testing. Patients with HAE-2 had normal but more often increased C1-INH levels. C4 levels in HAE-1 and HAE-2 symptomatic patients did not differ, with a median 0.05 g/l and 0.06 g/l, respectively. The normal range slightly changed over time, but generally, only 12 out of all 188 (6.4%) patients showed consistently normal C4 levels. Patients with inconclusive complement test results were typically part of families where the variant segregated with the disease and/or was classified unequivocally pathogenic. When the C4 level and C1-INH level and function were considered together, all but one patient (P05505) with available results exhibited at least one abnormal value
| (A) | Number | ||
| Patients | 207 | ||
| Probands | 85 | ||
| HAE-1 patients | 175 | ||
| HAE-1 probands | 74 | ||
| HAE-2 patients | 32 | ||
| HAE-2 probands | 11 | ||
| Females | 109 | ||
| Males | 98 | ||
| (B) | Median | Range | Typical normal values |
| Symptomatic HAE-1 patients | |||
| C1-INH concentration (g/l; n = 146) | 0.06 | 0.018–0.21 | 0.210–0.390 |
| C1-INH function (%; n = 136) | 38 | 0–78 | > 68 |
| C4 concentration (g/l; n = 146) | 0.05 | 0.018–0.23 | 0.100–0.380 |
| Asymptomatic HAE-1 patients | |||
| C1-INH concentration (g/l; n = 14) | 0.089 | 0.03–0.168 | 0.210–0.390 |
| C1-INH function (%; n = 13) | 56 | 20–82 | > 68 |
| C4 concentration (g/l; n = 14) | 0.075 | 0.02–0.11 | 0.100–0.380 |
| Symptomatic HAE-2 patients | |||
| C1-INH concentration (g/l; n = 27) | 0.383 | 0.212–0.765 | 0.210–0.390 |
| C1-INH function (%; n = 27) | 45 | 15–79 | > 68 |
| C4 concentration (g/l; n = 25) | 0.06 | 0.019–0.21 | 0.100–0.380 |
| Asymptomatic HAE-2 patients | |||
| C1-INH concentration (g/l; n = 3) | 0.383 | 0.35–0.414 | 0.210–0.390 |
| C1-INH function (%; n = 3) | 57 | 33–75 | > 68 |
| C4 concentration (g/l; n = 3) | 0.06 | 0.05–0.066 | 0.100–0.380 |