Table 1.
Demographic and clinical characteristics of the enrolled patients at baseline.
| Characteristics | Patients |
|---|---|
| N = 179 | |
| Sex, n (%) | |
| Male | 73 (40.8) |
| Female | 106 (59.2) |
| Age at consent, years | |
| Mean (SD) | 27.1 (16.08) |
| Median (range) | 27.0 (<1–65) |
| Age groups, n (%) | |
| ≤2 years | 7 (3.9) |
| >2 to ≤5 years | 6 (3.4) |
| >5 to ≤9 years | 21 (11.7) |
| >9 to ≤14 years | 16 (8.9) |
| >14 to ≤18 years | 11 (6.1) |
| ≥18 to ≤40 years | 77 (43.0) |
| >40 years | 41 (22.9) |
| Geographic region | |
| Netherlands | 75 (41.9) |
| Germany | 43 (24.0) |
| France | 19 (10.6) |
| Spain | 17 (9.5) |
| Austria | 12 (6.7) |
| Czech Republic | 3 (1.7) |
| Slovenia | 3 (1.7) |
| United Kingdom | 3 (1.7) |
| Sweden | 2 (1.1) |
| Denmark | 1 (0.6) |
| Poland | 1 (0.6) |
| Patients with molecular testing, n (%) | 92 (51.4) |
| TSC1 mutation | 8 (8.7) |
| TSC2 mutation | 71 (77.2) |
| No mutation identified | 13 (14.1) |
| TSC manifestations, n (%) | |
| Neurological | |
| SEGA | 100 (55.9) |
| Cortical tuber | 147 (82.1) |
| SEN | 156 (87.2) |
| Cerebral white matter radial migration lines | 24 (13.4) |
| Renal | |
| Renal angiomyolipoma | 149 (83.2) |
| Multiple renal cysts | 53 (29.6) |
| Polycystic kidneys | 4 (2.2) |
| Impaired renal function | 5 (2.8) |
| Renal malignancy | 1 (0.6) |
| Pulmonary | |
| Lymphangioleiomyomatosis | 32 (17.9) |
| Cardiovascular | |
| Cardiac rhabdomyoma | 51 (28.5) |
| Dermatologic | |
| ≥3 hypomelanotic macules | 84 (46.9) |
| Facial angiofibroma | 123 (68.7) |
| Shagreen patch | 42 (23.5) |
| Ungual or periungual fibromas | 44 (24.6) |
| Forehead plaque | 19 (10.6) |
| Confetti lesions | 16 (8.9) |
| Ophthalmologic | |
| Retinal hamartoma | 32 (17.9) |
| Epilepsy | 151 (84.4) |
SD, standard deviation; SEGA, subependymal giant cell astrocytoma; SEN, subependymal nodule; TSC, tuberous sclerosis complex.