|  | All patients, n = 121 |
---|---|---|
Age, years | Mean ± SD | 31.0 ± 10.5 |
Range | 18–61 | |
Median | 29.0 | |
IQR | 22–37 | |
Sex, n (%) | Female | 55 (45.5) |
Male | 66 (55.5) | |
Age at first manifestation of TSC, years | Mean ± SD | 3.8 ± 8.1 |
Range | 0–41 | |
Median | 0 | |
IQR | 0–3 | |
Age at TSC diagnosis, years | Mean ± SD | 8.9 ± 13.0 |
Range | 0–53 | |
Median | 2.5 | |
IQR | 0–14.3 | |
First TSC symptom/sign, n (%) | Epilepsy/seizures | 65 (53.7) |
Skin manifestation | 24 (19.8) | |
Cardiac rhabdomyoma | 7 (5.8) | |
Renal manifestation | 4 (3.3) | |
Eye manifestation | 3 (2.5) | |
Cardiac arrhythmia | 3 (2.5) | |
Other | 12 (9.9) | |
Genetic testing, n (%) | Yes, TSC1 | 25 (20.7) |
Yes, TSC2 | 31 (25.6) | |
Yes, TSC2/PKD1 contiguous gene | 1 (0.8) | |
Yes, but no mutation identified (NMI) | 16 (13.2) | |
Yes, mutation not specified | 10 (8.3) | |
No genetic testing | 30 (24.8) | |
Unknown | 8 (6.6) | |
Clinical manifestations, n (%) | Skin | 116 (95.9) |
 Angiofibroma | 101 (83.5) | |
 Hypomelanotic macules | 68 (56.2) | |
 Shagreen patches | 59 (48.8) | |
 Ungual fibromas | 13 (10.7) | |
 Skin tags | 4 (3.3) | |
 Café au lait-spots | 4 (3.3) | |
Epilepsy/seizures | 93 (76.9) | |
 Active epilepsy | 50 (41.3) | |
Brain structural | 86 (71.1) | |
 Tuber | 64 (52.9) | |
 SEGA | 51 (42.1) | |
 Hydrocephalus | 3 (2.5) | |
Kidney | 85 (70.2) | |
 AML | 70 (57.9) | |
Heart | 62 (51.2) | |
 Cardiac rhabdomyoma | 29 (24.0) | |
Neuropsychiatric | 60 (49.6) | |
Lymphangioleiomyomatosis | 12 (9.9) | |
Other | 50 (41.3) | |
Number of manifestations | Median | 5 |
Range | 1–8 | |
Highest school graduation certificate, n (%) | High school (‘Abitur/Fachabitur’) | 29 (24.0) |
Intermediate school (‘Realschulabschluss/mittlere Reife’) | 27 (22.3) | |
Secondary modern school (‘Hauptschulabschluss’) | 10 (8.3) | |
Still in school | 6 (5.0) | |
No certificate | 29 (24.0) | |
Other | 19 (15.7) | |
Current occupation, n (%) | Employee full-time | 35 (28.9) |
Unemployment or unable to work due to TSC | 29 (23.4) | |
Employee part-time | 12 (9.9) | |
Unemployment or unable to work due to other illness | 5 (4.1) | |
Self-employed | 2 (1.7) |