Presenting features and clinical outcomes of 18 patients with severe ADAMTS13 deficiency
Patient . | Y . | Age, y . | Sex . | Race . | BMI, (kg/m2) . | ADAMTS13 inhibitor . | Presenting symptoms . | Neurologic symptoms . | Platelet, (× 109/L) . | Hematocrit, % . | LDH, U/L . | Creatinine, mg/dL . | PEX, no. . | Diagnosis to death, d . | Remission to relapse, d . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1995 | 41 | F | AA | 33.7 | Moderate | Abdominal pain, diarrhea | None | 4 | 15 | 1363 | 1.2 | 24 | — | 58 |
| 2 | 1996 | 34 | M | AA | 22.8 | Strong | Chest pain, hematuria | None | 5 | 18 | 3423 | 1.0 | 19 | — | 133 |
| 3 | 1996 | 58 | F | AA | 29.8 | Moderate | Nausea, vomiting, diarrhea | None | 6 | 19 | 1018 | 1.5 | 42 | 488 | 318 |
| 4 | 1996 | 39 | F | W | 48.1 | Strong | Disoriented, diarrhea, numbness right hand and face | Numbness right hand and face | 18 | 22 | 1976 | 1.1 | 8 | — | — |
| 5 | 1996 | 43 | M | W | 35.4 | Absent | Abdominal pain, chest pain, confusion, ataxia | Confusion | 7 | 24 | 1668 | 3.9 | 71 | — | 950 |
| 6 | 1999 | 71 | F | W | 20.9 | Trace | Nausea, vomiting, ataxia | Stroke | 6 | 21 | 1156 | 1.0 | 48 | — | 121 |
| 7 | 1999 | 30 | M | AA | 28.1 | Strong | Confusion, disorientation | Seizure, coma | 11 | 21 | 2231 | 1.9 | 3 | 3 | Died |
| 8 | 1999 | 25 | F | W | 27.2 | Mild | Confusion, hematuria | Confusion | 11 | 20 | 2379 | 1.5 | 22 | — | 38, 39, 99, 55 |
| 9 | 1999 | 55 | M | AA | 26.7 | Mild | Right-hand weakness, aphasia | Right-hand weakness, aphasia | 24 | 30 | 436 | 1.2 | 20 | — | 319 |
| 10 | 2000 | 22 | F | W | 42.5 | Strong | Weakness, nausea, vomiting | None | 11 | 22 | 1367 | 1.0 | 74 | — | — |
| 11 | 2000 | 33 | F | AA | 43.0 | Moderate | Abdominal pain, nausea, vomiting | Stroke | 20 | 22 | 1613 | 5.5 | 15 | — | — |
| 12 | 2001 | 39 | F | W | 28.0 | Strong | Abdominal pain | None | 11 | 23 | 1434 | 0.9 | 10 | — | — |
| 13 | 2001 | 50 | F | W | 27.3 | Strong | Seizure, dysarthria | Seizure, dysarthria | 17 | 19 | 2712 | 2.9 | 7 | 17 | Died |
| 14 | 2001 | 33 | F | W | 41.6 | Strong | Weakness | None | 7 | 24 | 3909 | 2.2 | 10 | — | — |
| 15 | 2001 | 19 | F | W/NA | 22.2 | Trace | Headache, abdominal and chest pain | None | 7 | 18 | 1113 | 0.9 | 5 | — | — |
| 16 | 2001 | 38 | F | AA | 42.2 | Moderate | Right-hand numbness, dysarthria | Right-hand numbness, dysarthria | 11 | 18 | 1862 | 1.1 | 33 | — | — |
| 17 | 2001 | 20 | F | AA | 51.4 | Strong | Dyspnea, abdominal pain | None | 5 | 18 | 2901 | 1.7 | 24 | — | — |
| 18 | 2001 | 34 | F | AA | 32.8 | Moderate | Right-sided weakness, aphasia | Right-sided weakness, aphasia | 27 | 15 | 1428 | 1.0 | 14 | — | — |
Patient . | Y . | Age, y . | Sex . | Race . | BMI, (kg/m2) . | ADAMTS13 inhibitor . | Presenting symptoms . | Neurologic symptoms . | Platelet, (× 109/L) . | Hematocrit, % . | LDH, U/L . | Creatinine, mg/dL . | PEX, no. . | Diagnosis to death, d . | Remission to relapse, d . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1995 | 41 | F | AA | 33.7 | Moderate | Abdominal pain, diarrhea | None | 4 | 15 | 1363 | 1.2 | 24 | — | 58 |
| 2 | 1996 | 34 | M | AA | 22.8 | Strong | Chest pain, hematuria | None | 5 | 18 | 3423 | 1.0 | 19 | — | 133 |
| 3 | 1996 | 58 | F | AA | 29.8 | Moderate | Nausea, vomiting, diarrhea | None | 6 | 19 | 1018 | 1.5 | 42 | 488 | 318 |
| 4 | 1996 | 39 | F | W | 48.1 | Strong | Disoriented, diarrhea, numbness right hand and face | Numbness right hand and face | 18 | 22 | 1976 | 1.1 | 8 | — | — |
| 5 | 1996 | 43 | M | W | 35.4 | Absent | Abdominal pain, chest pain, confusion, ataxia | Confusion | 7 | 24 | 1668 | 3.9 | 71 | — | 950 |
| 6 | 1999 | 71 | F | W | 20.9 | Trace | Nausea, vomiting, ataxia | Stroke | 6 | 21 | 1156 | 1.0 | 48 | — | 121 |
| 7 | 1999 | 30 | M | AA | 28.1 | Strong | Confusion, disorientation | Seizure, coma | 11 | 21 | 2231 | 1.9 | 3 | 3 | Died |
| 8 | 1999 | 25 | F | W | 27.2 | Mild | Confusion, hematuria | Confusion | 11 | 20 | 2379 | 1.5 | 22 | — | 38, 39, 99, 55 |
| 9 | 1999 | 55 | M | AA | 26.7 | Mild | Right-hand weakness, aphasia | Right-hand weakness, aphasia | 24 | 30 | 436 | 1.2 | 20 | — | 319 |
| 10 | 2000 | 22 | F | W | 42.5 | Strong | Weakness, nausea, vomiting | None | 11 | 22 | 1367 | 1.0 | 74 | — | — |
| 11 | 2000 | 33 | F | AA | 43.0 | Moderate | Abdominal pain, nausea, vomiting | Stroke | 20 | 22 | 1613 | 5.5 | 15 | — | — |
| 12 | 2001 | 39 | F | W | 28.0 | Strong | Abdominal pain | None | 11 | 23 | 1434 | 0.9 | 10 | — | — |
| 13 | 2001 | 50 | F | W | 27.3 | Strong | Seizure, dysarthria | Seizure, dysarthria | 17 | 19 | 2712 | 2.9 | 7 | 17 | Died |
| 14 | 2001 | 33 | F | W | 41.6 | Strong | Weakness | None | 7 | 24 | 3909 | 2.2 | 10 | — | — |
| 15 | 2001 | 19 | F | W/NA | 22.2 | Trace | Headache, abdominal and chest pain | None | 7 | 18 | 1113 | 0.9 | 5 | — | — |
| 16 | 2001 | 38 | F | AA | 42.2 | Moderate | Right-hand numbness, dysarthria | Right-hand numbness, dysarthria | 11 | 18 | 1862 | 1.1 | 33 | — | — |
| 17 | 2001 | 20 | F | AA | 51.4 | Strong | Dyspnea, abdominal pain | None | 5 | 18 | 2901 | 1.7 | 24 | — | — |
| 18 | 2001 | 34 | F | AA | 32.8 | Moderate | Right-sided weakness, aphasia | Right-sided weakness, aphasia | 27 | 15 | 1428 | 1.0 | 14 | — | — |
Individual patient data are presented for the 18 patients who had severe ADAMTS13 deficiency (activity < 5%). Patients 8 and 17 were diagnosed after giving birth; all other patients had idiopathic TTP-HUS. Race: AA indicates African American; W, white; NA, Native American. Obesity was defined as a body mass index (BMI) ≥ 30 kg/m.2,28 ADAMTS13 inhibitor categories are described in “Patients and methods.” The principal presenting symptoms are described. Eight patients had severe neurologic abnormalities, as defined in “Patients and methods”; in 3 of these patients the neurologic abnormalities first occurred 1 to 2 days after plasma exchange had begun. In 2 other patients the only neurologic abnormalities were transient confusion at presentation. Laboratory data are the most abnormal values on the day of diagnosis ± 7 days. LDH values were adjusted to an upper limit of normal value of 200 U/L. Patient 11 had acute renal failure, as defined in “Patients and methods.” PEX indicates plasma exchange. Additional treatments were glucocorticoids in 8 patients (patients 1, 2, 6-8, 10, 12, 17), splenectomy in 2 patients (patient 8 in her fifth episode and patient 10), aspirin in 2 patients (patients 3 and 6), and cyclophosphamide and vincristine in patient 6. Patient 3 died during her second episode of TTP-HUS. The interval until the occurrence of a relapse is from the achievement of the previous remission, as defined in “Patients and methods.”—indicates that death or relapse has not yet occurred.