Demographics according to period of presentation
| Onset period . | No. (% total) . | Female, % . | Median symptom onset, age (range) . | Median diagnosis, age (range) . | Consang, % . | Ethnicity, % . |
|---|---|---|---|---|---|---|
| Neonatal/childhood | 28 (38) | 32 | 10 mo (<1 mo to 12 y) | 3.5 y (<1 mo to 12 y) | 43 | White, 39; S Asian, 36; Arab, 14; African, 11 |
| Pregnancy | 31 (42) | 100 | 26.5 y (16 y to 42 y) | 29 y (16 y to 43 y) | 7 | White, 87; S Asian, 10; SE Asian, 3 |
| Late onset | 12 (17) | 75 | 36 y (16 y to 67 y) | 56 y (27 y to 71 y) | 8 | White, 92; S Asian, 8 |
| Family history | 2 (3) | 100 | 3.5 y (0 mo to 7 y) | 26.5 y (1 y to 50 y) | 0 | White, 100 |
| Onset period . | No. (% total) . | Female, % . | Median symptom onset, age (range) . | Median diagnosis, age (range) . | Consang, % . | Ethnicity, % . |
|---|---|---|---|---|---|---|
| Neonatal/childhood | 28 (38) | 32 | 10 mo (<1 mo to 12 y) | 3.5 y (<1 mo to 12 y) | 43 | White, 39; S Asian, 36; Arab, 14; African, 11 |
| Pregnancy | 31 (42) | 100 | 26.5 y (16 y to 42 y) | 29 y (16 y to 43 y) | 7 | White, 87; S Asian, 10; SE Asian, 3 |
| Late onset | 12 (17) | 75 | 36 y (16 y to 67 y) | 56 y (27 y to 71 y) | 8 | White, 92; S Asian, 8 |
| Family history | 2 (3) | 100 | 3.5 y (0 mo to 7 y) | 26.5 y (1 y to 50 y) | 0 | White, 100 |
Neonatal and childhood presentations were more likely to be associated with consanguinity and accounted for all cases of cTTP seen in patients of African or Middle Eastern ethnic origin. Pregnancy-associated presentations were most commonly associated with the exon 24 rs142572218 mutation.
Consang, consanguineous; S Asian, south Asian; SE Asian, southeast Asian.