Pathogenesis of thrombotic microangiopathies

Annu Rev Pathol. 2008:3:249-77. doi: 10.1146/annurev.pathmechdis.3.121806.154311.

Abstract

Profound thrombocytopenia and microangiopathic hemolytic anemia characterize thrombotic microangiopathy, which includes two major disorders: thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). TTP has at least three types: congenital or familial, idiopathic, and nonidiopathic. The congenital and idiopathic TTP syndromes are caused primarily by deficiency of ADAMTS13, owing to mutations in the ADAMTS13 gene or autoantibodies that inhibit ADAMTS13 activity. HUS is similar to TTP, but is associated with acute renal failure. Diarrhea-associated HUS accounts for more than 90% of cases and is usually caused by infection with Shiga-toxin-producing Escherichia coli (O157:H7). Diarrhea-negative HUS is associated with complement dysregulation in up to 50% of cases, caused by mutations in complement factor H, membrane cofactor protein, factor I or factor B, or by autoantibodies against factor H. The incomplete penetrance of mutations in either ADAMTS13 or complement regulatory genes suggests that precipitating events or triggers may be required to cause thrombotic microangiopathy in many patients.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • ADAM Proteins / deficiency
  • ADAM Proteins / genetics
  • ADAM Proteins / metabolism
  • ADAMTS13 Protein
  • Acute Kidney Injury / etiology
  • Acute Kidney Injury / metabolism
  • Acute Kidney Injury / pathology
  • Diarrhea / metabolism
  • Diarrhea / microbiology
  • Diarrhea / pathology
  • Hemolytic-Uremic Syndrome / etiology*
  • Hemolytic-Uremic Syndrome / metabolism
  • Hemolytic-Uremic Syndrome / pathology
  • Humans
  • Microcirculation / pathology
  • Point Mutation
  • Purpura, Thrombotic Thrombocytopenic / etiology*
  • Purpura, Thrombotic Thrombocytopenic / metabolism
  • Purpura, Thrombotic Thrombocytopenic / pathology
  • von Willebrand Factor / metabolism

Substances

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