Investigational cohort: demographic data, clinical course, and treatment modalities in 11 TTP patients who were studied during acute disease episodes, under treatment and in remission
| Patient . | Figure . | Age, y . | Sex . | Diagnosis . | Treatment . | Course and outcome . |
|---|---|---|---|---|---|---|
| A* | 2A | 38 | F | Acute, acquired TTP | PEX, corticosteroids | Single episode, in remission since 9.5 y |
| B | 2B | 69 | M | Acute, acquired TTP | PEX, corticosteroids | Single episode, in remission since 1.5 y |
| C | 2C | 57 | M | Acute, acquired TTP | PEX, corticosteroids | Death of disease day 11, presumably due to catheter sepsis, blood cultures positive for S aureus |
| D | 2D | 29 | M | Acute, acquired TTP | PEX, corticosteroids, rituximab | Single episode, because of plasma-refractory disease additional treatment with 4 weekly doses of rituximab, starting on day 20, in remission since 1 y |
| E† | 2E | 17 | M | Acute, acquired TTP | PEX, corticosteroids, splenectomy | Single episode, splenectomy performed because of plasma-refractory disease on day 29, in remission since 10.5 y despite the reappearance of severe ADAMTS13 deficiency and ADAMTS13 inhibitor 3.5 y after splenectomy |
| F | 37 | M | Recurrent, acquired TTP | PEX, steroids, rituximab | First acute episode and 2 relapses over a follow-up period of 5 y, treatment of both relapses included 4 weekly doses of rituximab | |
| G | 36 | M | Recurrent, acquired TTP | PEX, corticosteroids | First seen in remission 5 mo after second acute episode, relapsed 3 times over a follow-up period of 2.5 y | |
| H | 59 | M | Recurrent, acquired TTP | PEX, corticosteroids | First seen in remission 1 y after third acute episode and 3 wks before fourth acute episode | |
| I | 51 | M | Hereditary TTP | PEX, FFP infusions | Second acute TTP episode, leading to a diagnosis of severe congenital ADAMTS13 deficiency, in remission on regular FFP infusions | |
| J | 61 | M | Hereditary TTP | PEX | First acute TTP episode and diagnosis of severe congenital ADAMTS13 deficiency and hereditary TTP, no prophylactic FFP infusions so far | |
| K | 49 | F | Hereditary TTP | FFP infusion | Following the fifth acute TTP episode diagnosis of severe congenital ADAMTS13 deficiency, no prophylactic FFP infusions so far |
| Patient . | Figure . | Age, y . | Sex . | Diagnosis . | Treatment . | Course and outcome . |
|---|---|---|---|---|---|---|
| A* | 2A | 38 | F | Acute, acquired TTP | PEX, corticosteroids | Single episode, in remission since 9.5 y |
| B | 2B | 69 | M | Acute, acquired TTP | PEX, corticosteroids | Single episode, in remission since 1.5 y |
| C | 2C | 57 | M | Acute, acquired TTP | PEX, corticosteroids | Death of disease day 11, presumably due to catheter sepsis, blood cultures positive for S aureus |
| D | 2D | 29 | M | Acute, acquired TTP | PEX, corticosteroids, rituximab | Single episode, because of plasma-refractory disease additional treatment with 4 weekly doses of rituximab, starting on day 20, in remission since 1 y |
| E† | 2E | 17 | M | Acute, acquired TTP | PEX, corticosteroids, splenectomy | Single episode, splenectomy performed because of plasma-refractory disease on day 29, in remission since 10.5 y despite the reappearance of severe ADAMTS13 deficiency and ADAMTS13 inhibitor 3.5 y after splenectomy |
| F | 37 | M | Recurrent, acquired TTP | PEX, steroids, rituximab | First acute episode and 2 relapses over a follow-up period of 5 y, treatment of both relapses included 4 weekly doses of rituximab | |
| G | 36 | M | Recurrent, acquired TTP | PEX, corticosteroids | First seen in remission 5 mo after second acute episode, relapsed 3 times over a follow-up period of 2.5 y | |
| H | 59 | M | Recurrent, acquired TTP | PEX, corticosteroids | First seen in remission 1 y after third acute episode and 3 wks before fourth acute episode | |
| I | 51 | M | Hereditary TTP | PEX, FFP infusions | Second acute TTP episode, leading to a diagnosis of severe congenital ADAMTS13 deficiency, in remission on regular FFP infusions | |
| J | 61 | M | Hereditary TTP | PEX | First acute TTP episode and diagnosis of severe congenital ADAMTS13 deficiency and hereditary TTP, no prophylactic FFP infusions so far | |
| K | 49 | F | Hereditary TTP | FFP infusion | Following the fifth acute TTP episode diagnosis of severe congenital ADAMTS13 deficiency, no prophylactic FFP infusions so far |
Patients (M indicates male; and F, female) with acute idiopathic TTP with severe acquired ADAMTS13 deficiency were treated with daily PEX with fresh frozen plasma (FFP) replacement, and corticosteroids. Patients A through E had their first acute TTP episode. Patients A and B responded well to therapy. Patient C died at day 11 of therapy, presumably due to catheter sepsis. Patients D and E developed exacerbations during daily PEX therapy that led to the treatment with rituximab (patient D) or splenectomy (patient E). Patients F through H had a history of recurrent acute TMA bouts over several years. Patients I through K were diagnosed with hereditary TTP because of severe constitutional ADAMTS13 deficiency. Plasma samples were available from acute disease bouts and from periods of clinical remission. Only patient I was receiving regular prophylactic FFP transfusions.
Patient A has been previously published as patient 4 in Fontana et al.52
Patient E has been previously published as patient 2 in Kremer Hovinga et al15 and as patient 3 in Fontana et al.52