Clinical and laboratory parameters of patients with TTP and their available relatives
| Individual . | Age at first symptom manifestation . | VWF-CP, % . | Inhibitor present . | Mutation 1 . | Mutation 2 . | Clinical manifestations . |
|---|---|---|---|---|---|---|
| 01 I-1 (f) | — | 37 | No | Ser263Cys | WT | — |
| 01 I-2 (m) | — | 55 | No | 4143insA | WT | — |
| 01 II-1 (p)3-150 | Congenital | < 2-5 | No | Ser263Cys | 4143insA | Mild |
| 01 II-2 (b) | — | NA | No | Ser263Cys | WT | — |
| 02 I-1 (p)3-150 | 11 mo | < 2 | Var | WT | WT | Mild |
| 03 I-1 (p)3-150 | 2 y | NA | NA | Pro353Leu | Arg910Xaa | DOD |
| 04 I-1 (f) | — | NA | NA | 4143insA | WT | — |
| 04 I-2 (m) | — | 24 | NA | Arg1034Xaa | WT | — |
| 04 II-1 (p)3-150 | Congenital | < 2 | NA | 4143insA | Arg1034Xaa | Severe |
| 04 II-2 (b) | — | 23 | NA | Arg1034Xaa | WT | — |
| 05 I-1 (p)3-150 | Congenital | 2-6 | No | Leu232Gln | Leu232Gln | Severe |
| 06 I-1 (p)3-150 | 9 y | 5-56 | Var | WT | WT | Mild |
| 07 I-1 (p)3-150 | 11 y | < 2-100 | Var | WT | WT | Mild |
| 08 I-1 (f) | — | NA | NA | Trp390Xaa | WT | — |
| 08 I-2 (m) | — | NA | NA | 2549–2550delAT | WT | — |
| 08 II-1 (p)3-150 | Congenital | NA | NA | Trp390Xaa | 2549–2550delAT | Severe |
| 09 I-1 (p)3-150 | 6 y | < 2-71 | Yes | WT | WT | Mild |
| 10 I-1 (f) | — | 21 | No | 4143insA | WT | — |
| 10 I-2 (m) | — | 23 | No | Pro353Leu | WT | — |
| 10 II-1 (p)3-150 | 4 y | < 2-6 | No | Pro353Leu | 4143insA | Mild |
| 10 II-2 (s) | — | 24 | No | 4143insA | WT | — |
| 11 I-1 (f) | — | ≈ 50 | No | Arg910Xaa | WT | — |
| 11 I-2 (m) | — | ≈ 50 | No | 4143insA | WT | — |
| 11 II-1 (p)3-150 | 3 y | < 2% | No | Arg910Xaa | 4143insA | Severe |
| Individual . | Age at first symptom manifestation . | VWF-CP, % . | Inhibitor present . | Mutation 1 . | Mutation 2 . | Clinical manifestations . |
|---|---|---|---|---|---|---|
| 01 I-1 (f) | — | 37 | No | Ser263Cys | WT | — |
| 01 I-2 (m) | — | 55 | No | 4143insA | WT | — |
| 01 II-1 (p)3-150 | Congenital | < 2-5 | No | Ser263Cys | 4143insA | Mild |
| 01 II-2 (b) | — | NA | No | Ser263Cys | WT | — |
| 02 I-1 (p)3-150 | 11 mo | < 2 | Var | WT | WT | Mild |
| 03 I-1 (p)3-150 | 2 y | NA | NA | Pro353Leu | Arg910Xaa | DOD |
| 04 I-1 (f) | — | NA | NA | 4143insA | WT | — |
| 04 I-2 (m) | — | 24 | NA | Arg1034Xaa | WT | — |
| 04 II-1 (p)3-150 | Congenital | < 2 | NA | 4143insA | Arg1034Xaa | Severe |
| 04 II-2 (b) | — | 23 | NA | Arg1034Xaa | WT | — |
| 05 I-1 (p)3-150 | Congenital | 2-6 | No | Leu232Gln | Leu232Gln | Severe |
| 06 I-1 (p)3-150 | 9 y | 5-56 | Var | WT | WT | Mild |
| 07 I-1 (p)3-150 | 11 y | < 2-100 | Var | WT | WT | Mild |
| 08 I-1 (f) | — | NA | NA | Trp390Xaa | WT | — |
| 08 I-2 (m) | — | NA | NA | 2549–2550delAT | WT | — |
| 08 II-1 (p)3-150 | Congenital | NA | NA | Trp390Xaa | 2549–2550delAT | Severe |
| 09 I-1 (p)3-150 | 6 y | < 2-71 | Yes | WT | WT | Mild |
| 10 I-1 (f) | — | 21 | No | 4143insA | WT | — |
| 10 I-2 (m) | — | 23 | No | Pro353Leu | WT | — |
| 10 II-1 (p)3-150 | 4 y | < 2-6 | No | Pro353Leu | 4143insA | Mild |
| 10 II-2 (s) | — | 24 | No | 4143insA | WT | — |
| 11 I-1 (f) | — | ≈ 50 | No | Arg910Xaa | WT | — |
| 11 I-2 (m) | — | ≈ 50 | No | 4143insA | WT | — |
| 11 II-1 (p)3-150 | 3 y | < 2% | No | Arg910Xaa | 4143insA | Severe |
f indicates father, m, mother, b, brother, and s, sister of the patient, respectively; WT, wild type; NA, not available for study; Var, variable; DOD, dead of disease; —, not applicable.
Patient data (p).