[Management of congenital thrombotic thrombocytopenic purpura in the era of recombinant ADAMTS13 protein: Recommendations from the Reference Center for Thrombotic Microangiopathies (CNR-MAT)].

Abstract

Thrombotic Thrombocytopenic Purpura (TTP) is a rare disease characterized by a severe deficiency of ADAMTS13, the specific protease that cleaves von Willebrand factor. The congenital form of TTP (cTTP) results from pathogenic variants of the ADAMTS13 gene. cTTP has two peaks of incidence: one in childhood and the other in adulthood, mainly in an obstetric context. The treatment of cTTP relies on ADAMTS13 replacement therapy for prophylaxis or on-demand, depending on the evolving nature of the disease, along with the management of cardiovascular risk factors. The historical treatment for cTTP has been substitution plasma therapy. Since 2017, a recombinant human ADAMTS13 protein (rhADAMTS13) has been evaluated in cTTP in international clinical trials. The rhADAMTS13 protein, intravenous infusion used for prophylaxis or on-demand, has been granted early access or compassionate use in cTTP in France in 2024. The objective of this document is to establish academic recommendations for the use of rhADAMTS13 in cTTP.