Thrombotic microangiopathies: towards a pathophysiology-based classification

Cardiovasc Hematol Disord Drug Targets. 2009 Mar;9(1):36-50. doi: 10.2174/187152909787581318.

Abstract

Thrombotic microangiopathies (TMA) encompass various diseases characterized by a microangiopathic hemolytic anemia, platelet clumping, and organ failure of variable severity. Thrombotic thrombocytopenic purpura (TTP) is a particularly severe form of TMA characterized by systemic organ failure which results from a severe defect in ADAMTS13, a plasma enzyme specifically involved in the cleavage of highly hemostatic unusually large (UL) von Willebrand factor (VWF) multimers into smaller and less adhesive VWF forms. Failure to degrade these UL-VWF multimers leads to excessive platelet aggregates and capillary occlusion. ADAMTS13 deficiency results from bi-allelic mutations in hereditary TTP, whereas in acquired forms it results from autoantibodies that alter the protein function. Patients with acquired idiopathic TTP have a trend to develop autoimmunity, since a clinical context of autoimmunity may be found in 30 p. cent of cases. Moreover, the remarkable efficiency of monoclonal antibodies directed against CD20 antigen of B lymphocytes in refractory or chronic relapsing forms provides an additional indirect argument to consider acquired TTP as an autoimmune disease. Hemolytic uremic syndrome (HUS) is characterized prominently by a renal failure. In most cases, HUS is caused by entero-hemorrhagic Escherichia coli (diarrhea-positive HUS). Diarrhea-negative HUS, termed atypical HUS, was associated with a dysfunction in complement pathway involving mutations in factor H, factor I, CD46/MCP, factor B and C3 components. The major improvement in our understanding of TMA pathophysiology allows now a more accurate molecular classification of TMA syndromes, which opens fascinating perspectives of targeted therapies in the forthcoming years.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • ADAM Proteins / deficiency
  • ADAM Proteins / genetics
  • ADAMTS13 Protein
  • Animals
  • Autoantibodies / metabolism
  • Autoimmunity
  • Drug Delivery Systems
  • Hemolytic-Uremic Syndrome / classification
  • Hemolytic-Uremic Syndrome / physiopathology*
  • Hemolytic-Uremic Syndrome / therapy
  • Humans
  • Microcirculation
  • Platelet Aggregation
  • Purpura, Thrombotic Thrombocytopenic / classification
  • Purpura, Thrombotic Thrombocytopenic / physiopathology*
  • Purpura, Thrombotic Thrombocytopenic / therapy
  • Severity of Illness Index
  • von Willebrand Factor / metabolism

Substances

  • Autoantibodies
  • von Willebrand Factor
  • ADAM Proteins
  • ADAMTS13 Protein
  • ADAMTS13 protein, human