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• W2028498210 abstract "We read with interest the recent report by Barbot et al (2001) describing a patient with congenital thrombotic thrombocytopenic purpura (TTP) due to a deficiency of von Willebrand factor (VWF)-cleaving protease activity. We would like to describe our experience of another patient, with a contrasting clinical phenotype. In 1987, a 15-month-old caucasian girl presented with a florid purpuric rash and mucosal haemorrhage of sudden onset. She was anaemic (haemoglobin 9·1 g/dl) and thrombocytopenic (platelets 47 × 109/l). Blood film examination revealed red cell fragmentation, helmet cells and spherocytes. Renal function was normal and there were no neurological problems. No obvious precipitating factors were found, although the patient developed rotavirus diarrhoea 3 d after presentation. The haemolytic episode resolved, spontaneously, over 21 d. The patient suffered two similar, but shorter-lasting, episodes over the following 12 months. Both appeared to be precipitated by upper respiratory tract infections and resolved spontaneously. On the basis that our patient demonstrated the clinical features of chronic relapsing TTP, a trial of fresh-frozen plasma (FFP) transfusion to treat relapses was initiated in 1989. Three episodes, treated with FFP (15 ml/kg), resolved over 2, 3 and 7 d. Given the spontaneous resolution of previous haemolytic crises and concerns over repeated blood product exposure, the use of FFP for the treatment of crises was discontinued. Over 7 years, 22 relapses, characterized by mucosal haemorrhage, purpura and bruising, were managed supportively. On each occasion the clinical and haematological features resolved spontaneously over 3–90 d. In 1997, when the patient was 11 years old, increasing evidence regarding the effectiveness of prophylactic FFP in chronic relapsing TTP had begun to appear in the literature. A regimen of 3-weekly FFP transfusion, from two apheresis donors, at a dose of 10 ml/kg was implemented. This regimen was followed for 4 years with only four breakthrough episodes. One relapse was precipitated by an increase in the interval between transfusions to 5 weeks. Overall, the use of prophylactic FFP lead to a marked reduction in episodes of relapse. Recently, VWF-cleaving protease activity was assayed in three patients with chronic relapsing TTP (Allford et al, 2000). Plasma VWF-cleaving protease activity, measured using the same technique, was absent in our patient during remission. Addition of normal plasma corrected the absent cleaving protease activity, indicating a deficiency rather than the presence of a circulating inhibitor. Ultra-large VWF multimers were also present. These findings confirmed the clinical impression of chronic relapsing TTP. In conclusion, we present a further case of congenital TTP due to a deficiency of VWF-cleaving protease activity. The clinical heterogeneity of reported cases is intriguing. Furlan et al (1998) reported six patients with a median age of 22·7 years at presentation; other groups have described five patients presenting at < 24 months old (Häberle et al, 1999; Allford et al, 2000; Barbot et al, 2001). There is no clear correlation between the level of measured VWF-cleaving protease and clinical consequences. One individual, the sibling of an index case, has been found to have absent plasma VWF-cleaving protease activity but no clinical problems, while in other cases similar levels of VWF-cleaving protease activity (< 3%) are associated with varying severities of TTP (Allford et al, 2000). The interaction between VWF, platelets and the endothelium is central to the pathogenesis of TTP. Although the VWF-cleaving protease seems to have a critical role, other factors are probably involved. The presence of ultra-large VWF multimers is not invariably linked to TTP. Ultra-large VWF multimers are present in the neonatal period and also in the VWD Vicenza variant (Mannucci et al, 1988); neither condition is associated with an increased incidence of TTP. In addition, VWF is an acute-phase reactant; inflammation may increase the VWF:VWF-cleaving protease ratio and precipitate a haemolytic episode. Similarly, intra- and interpatient variation in platelet or endothelial activation could account for the observed heterogeneity. It is unclear whether the reduced VWF-cleaving protease activity, seen in patients with congenital TTP, is a quantitative or qualitative phenomenon. The VWF-cleaving protease may have actions beyond those of VWF cleavage; these could be variably affected by structural differences in the VWF-cleaving protease associated with a qualitative defect. We are particularly interested in the susceptibility of the VWF protein to cleavage and are undertaking studies to assess genetic variability around the known VWF cleavage site (Dent et al, 1990)." @default.
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• W2028498210 date "2002-03-25" @default.
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• W2028498210 title "Chronic relapsing thrombotic thrombocytopenic purpura due to a deficiency of von Willebrand factor-cleaving protease activity" @default.
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• W2028498210 doi "https://doi.org/10.1046/j.1365-2141.2002.3406_4.x" @default.
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