Hereditary thrombotic thrombocytopenic purpura

Abstract

Hereditary thrombotic thrombocytopenic purpura is an autosomal recessively inherited disease forming a very small subset of thrombotic thrombocytopenic purpura with a "smoldering" course and typical onset in the neonatal period and early adulthood. As a result of a severe congenital deficiency of the metalloproteinase ADAMTS13 cleaving vWF multimers, multisystem damage with microthrombus formation in terminal arterioles and capillaries occurs during an acute attack. Between attacks, nonspecific syndromes also appear responsive to replacement therapy. The source of ADAMTS13 replacement therapy is currently human plasma, the use of recombinant ADAMTS13 is pending approval by the appropriate authorities