Table 1.
Clinical data of patients with HAE-nlC1-INH according to the identification of mutation
| HAE-F12 | HAE-unknown | |||||
|---|---|---|---|---|---|---|
| Patients | 183 | 38 | ||||
| Families | 62 | 15 | ||||
| Family history | 170/183 | 92.9% | 38/38 | 100% | ||
| Sex | 153F:30M | 83.6%:16.4% | 33F:5M | 86.8%:13.2% | ||
| Onset of symptoms (age) | 2–68 (136/141) median = 18.5 | 2–52 (31/38) median = 16 | ||||
| Site of edema | ||||||
| Subcutaneous | 84/141 | 59.6% | 26/38 | 68.4% | ||
| Facial | 119/141 | 84.4% | 31/38 | 81.6% | ||
| Genital | 21/141 | 14.9% | 10/38 | 26.3% | ||
| Abdominal | 109/141 | 77.3% | 28/38 | 73.7% | ||
| Tongue | 32/141 | 22.7% | 5/38 | 13.2% | ||
| Upper airways | 65/141 | 46.1% | 17/38 | 44.7% | ||
| Trigger factors | ||||||
| Hormones (symptomatic women) (n = 128) | ||||||
| Oral contraceptives | 87/128 | 68.0% | 17/33 | 51.5% | ||
| Pregnancy | 25/128 | 19.5% | 6/33 | 18.2% | ||
| Menses | 1/128 | 0.8% | 3/33 | 9.1% | ||
| HRT | 2/128 | 1.6% | 1/33 | 3.0% | ||
| All symptomatic patients | ||||||
| Stress | 87/141 | 61.7% | 18/38 | 47.4% | ||
| Trauma | 70/141 | 49.6% | 16/38 | 42.1% | ||
| Surgery | 11/141 | 7.8% | 4/38 | 10.5% | ||
| Dental procedure | 21/141 | 14.9% | 5/38 | 13.2% | ||
| Infection | 6/141 | 4.3% | 4/38 | 10.5% | ||
| Weather | 11/141 | 7.8% | 4/38 | 10.5% | ||
| Exercise | 4/141 | 2.8% | 5/38 | 13.2% | ||
HRT: hormonal reposition therapy