Clinical presentation of EPP and X-XLP
| Characteristic . | EPP . | Male patients with XLP . | Female patients with XLP . |
|---|---|---|---|
| Male | 103 (50.5%) | 10/10 (100%) | – |
| Female | 101 (49.5%) | – | 12/12 (100%) |
| Presentation | |||
| Age of onset, y (SD) | 4.1 (3.0) | 2.7 (2.4) | 11.6 (11.4) |
| Symptoms before age 12 | 188/204 (92.1%) | 10/10 (100%) | 5/12 (42%) |
| Cutaneous manifestations | |||
| Time to symptoms <10 min | 52/204 (25.5%) | 2/10 (20%) | 2/12 (17%) |
| Time to symptoms <30 min | 116/204 (56.8%) | 10/10 (100%) | 6/12 (50%) |
| Burning | 186/204 (91.2%) | 9/10 (90%) | NR |
| Tingling | 160/204 (78.4%) | 10/10 (100%) | NR |
| Itching | 159/204 (77.9%) | 8/10 (80%) | NR |
| Swelling | 176/204 (86.3%) | 10/10 (100%) | NR |
| Redness | 97/204 (47.5%) | 4/10 (40%) | NR |
| Sensitivity to fluorescent light | 48/204 (23.5%) | 4/10 (40%) | 2/12 (17%) |
| Extracutaneous manifestations | |||
| Abnormal aminotransferases | 19/140 (13.6%) | 3/8 (37.5%) | 2/9 (22%) |
| Gallstones | 45/204 (22.1%) | 4/10 (40%) | 4/12 (33%) |
| Age at diagnosis of gallstones, y | 30.4 (11.3) | 43 (10.7) | 24.8 (6.7) |
| Anemia | 95/204 (46.6%) | 3/10 (30%) | 9/12 (75%) |
| Characteristic . | EPP . | Male patients with XLP . | Female patients with XLP . |
|---|---|---|---|
| Male | 103 (50.5%) | 10/10 (100%) | – |
| Female | 101 (49.5%) | – | 12/12 (100%) |
| Presentation | |||
| Age of onset, y (SD) | 4.1 (3.0) | 2.7 (2.4) | 11.6 (11.4) |
| Symptoms before age 12 | 188/204 (92.1%) | 10/10 (100%) | 5/12 (42%) |
| Cutaneous manifestations | |||
| Time to symptoms <10 min | 52/204 (25.5%) | 2/10 (20%) | 2/12 (17%) |
| Time to symptoms <30 min | 116/204 (56.8%) | 10/10 (100%) | 6/12 (50%) |
| Burning | 186/204 (91.2%) | 9/10 (90%) | NR |
| Tingling | 160/204 (78.4%) | 10/10 (100%) | NR |
| Itching | 159/204 (77.9%) | 8/10 (80%) | NR |
| Swelling | 176/204 (86.3%) | 10/10 (100%) | NR |
| Redness | 97/204 (47.5%) | 4/10 (40%) | NR |
| Sensitivity to fluorescent light | 48/204 (23.5%) | 4/10 (40%) | 2/12 (17%) |
| Extracutaneous manifestations | |||
| Abnormal aminotransferases | 19/140 (13.6%) | 3/8 (37.5%) | 2/9 (22%) |
| Gallstones | 45/204 (22.1%) | 4/10 (40%) | 4/12 (33%) |
| Age at diagnosis of gallstones, y | 30.4 (11.3) | 43 (10.7) | 24.8 (6.7) |
| Anemia | 95/204 (46.6%) | 3/10 (30%) | 9/12 (75%) |
Adapted from Balwani et al.21