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Clinical and molecular traits of hereditary TTP
infusion;2,18 however, data from our Registry show that the median duration of over 200 well-documented episodes was seven days, probably because of delayed plasma ther- apy or illness from the triggering event.
Information on prophylactic treatment was available for 117 of 123 cTTP patients (Table 3). Twenty-nine percent of the patients had no regular prophylaxis and received plasma only on demand. Seventy-one percent were on
prophylactic treatment, usually with fresh frozen plasma or solvent/detergent plasma infusions, while only one patient was treated with a commercial Factor VIII concen- trate (Koate®). Dosing intervals mostly varied between two and three weeks, as had been proposed earlier on the basis of platelet count measurements.18 Whether such a dosing interval sufficiently controls minor TTP-related symptoms is questionable given the frequently reported
Figure 4. Age at disease onset in relation to ADAMTS13 activity in 97 congenital thrombotic thrombocytopenic purpura (cTTP) patients. Ninety-seven confirmed cTTP patients had information on disease onset and an ADAMTS13 activity determination performed either at the Central Hematology Laboratory, Bern University Hospital, Switzerland, or at the Department of Blood Transfusion Medicine, Nara Medical University, Japan. Patients are labeled according to their ADAMTS13 muta- tions: 17 homozygous carriers and 12 compound heterozygous carriers of ADAMTS13 c.4143_4144dupA are shown with white and gray circles, respectively. Black circles represent carriers of other mutations. Spearman’s rank correlation coefficient for age at overt disease onset versus ADAMTS13 activity: rs=0.25, P<0.01. yrs: years.
Table 4. Characteristics of congenital thrombotic thrombocytopenic purpura patients carrying one or two ADAMTS13 c.4143_4144dupA alleles. Genotype
Variables
Median age of patient at enrollment (yrs)
Median age of patient at clinical diagnosis (yrs) Female sex
Occurrence of major diseases/disorders
Transient ischemic attack
Stroke
(Chronic) renal insufficiency
Jaundice (hemolysis or liver disease)
Diagnosis of a transfusion transmitted viral disease
Mode of treatment
Number of patients with regular prophylactic treatment Median interval of most recent treatment (days)*
Reported episodes
Number of patients with reported episodes prior to enrollment
Median number of episodes per patient
Number of retrospective episodes per year
Homozygous
(N=22) (N=16) P
Compound heterozygous
31.2 [17.0, 60.1]
20.4 [1.8, 51.5] 8 (36%)
4 (18%) 5 (23%) 7 (32%) 5 (23%) 1 (4.5%)
17 (77%) 21.0 [7.00, 75.0]
15 (68%)
6.00 [1.00, 11.0]
0.15 [0.03, 0.35]
23.2 [4.0, 60.1] 0.08
4.35 [0.2, 39.6] 0.06 9 (56%) 0.32
4 (25%) 0.70 4 (25%) 1.00 6 (38%) 0.72 2 (13%) 0.68 0 (0%) 1.00
11 (69%) 0.71 14.0 [14.0, 56.0] 0.19
11 (69%) 1.00
1.00 [1.00, 12.0] 0.13
0.12 [0.03, 0.80] 0.62
N: total number of patients. Continuous variables are presented as median (minimum, maximum). Categorical variables are presented as number and percentage of all patients. *Interval missing for two homozygous patients. yrs: years
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