• Bérangère S Joly, Paul Coppo, and Agnès Veyradier.
• Service d'hématologie biologique, groupe hospitalier Saint-Louis-Lariboisière, Assistance Publique-Hôpitaux de Paris, Université Paris-Diderot, Paris, France.
• Eur. J. Haematol. 2018 Oct 1; 101 (4): 425-434.

AbstractChild-onset thrombotic thrombocytopenic purpura (TTP) is a rare entity of thrombotic microangiopathy (TMA). The pathophysiology of the disease is based on a severe functional deficiency of ADAMTS13 (activity <10%), the specific von Willebrand factor (VWF)-cleavage protease. This deficiency may be either acquired (associated anti-ADAMTS13 autoantibodies) or congenital (resulting from biallelic mutations of ADAMTS13 gene). ADAMTS13 deficiency is responsible for the accumulation of high molecular weight multimers of VWF and the formation of platelet thrombi in the microcirculation. Consequently, microangiopathic hemolytic anemia and consumption thrombocytopenia are associated with organ ischemia. The differential diagnosis with other TMAs, autoimmune cytopenias or hematological malignancies may be challenging. The exploration of ADAMTS13 (activity, antibodies, antigen, ADAMTS13 gene) supports the diagnosis of TTP. The first-line treatment of the acute phase of TTP is based on plasmatherapy. In congenital TTP, patients with a chronic disease benefit from a prophylactic plasmatherapy. In autoimmune TTP, steroids and B-cells depleting therapies increasingly are used together with plasma exchange. Long-term follow-up including the monitoring of ADAMTS13 activity is mandatory. A severe decrease in ADAMTS13 activity (<10%) may predict relapses and preemptive B-cell depletion with rituximab can be used to prevent relapses.© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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