An update on pathogenesis and diagnosis of thrombotic thrombocytopenic purpura

Expert Rev Hematol. 2019 Jun;12(6):383-395. doi: 10.1080/17474086.2019.1611423. Epub 2019 May 20.


Introduction: Thrombotic thrombocytopenic purpura (TTP) is a rare and life-threatening thrombotic microangiopathy characterized by microangiopathic hemolytic anemia, consumption thrombocytopenia, and organ injury. TTP pathophysiology is based on a severe ADAMTS13 deficiency, the specific von Willebrand factor (VWF)-cleaving protease. Areas covered: VWF/ADAMTS13 interaction is specific, and ADAMTS13 conformation has been elucidated recently. ADAMTS13 deficiency is congenital or acquired. Several targets are used in TTP treatment. Expert opinion: Differential diagnosis of TTP may be challenging and ADAMTS13 investigations are needed. ADAMTS13 conformation could be a promising parameter for TTP diagnosis and prognosis in the coming years. Plasma therapy remains the first-line treatment of the acute phase of TTP. Additional curative and preemptive rituximab are used in acquired TTP. Clinical trials dedicated to innovative drugs are promising.

Keywords: ADAMTS13; Thrombotic microangiopathy; autoimmunity; rare disease; thrombotic thrombocytopenic purpura; von Willebrand factor.

Publication types

  • Review

MeSH terms

  • Humans
  • Purpura, Thrombotic Thrombocytopenic / diagnosis*
  • Purpura, Thrombotic Thrombocytopenic / pathology

Supplementary concepts

  • Thrombotic thrombocytopenic purpura, acquired