Acquired deficiency of von Willebrand factor-cleaving protease in a patient with thrombotic thrombocytopenic purpura

Blood. 1998 Apr 15;91(8):2839-46.

Abstract

Plasma of patients with thrombotic thrombocytopenic purpura (TTP) has been shown to contain unusually large von Willebrand factor (vWF) multimers that may cause platelet agglutination in vivo. Fresh frozen plasma infusions and plasma exchange represent the most efficient therapy of acute TTP. A specific protease responsible for cleavage of vWF multimers has been recently isolated from normal human plasma and was found to be deficient in four patients with chronic relapsing TTP. We examined the activity of the vWF-cleaving protease in plasma samples collected over a period of 400 days from a further patient with recurrent episodes of TTP who was treated by plasma exchange, plasma infusion, vincristine, corticosteroid therapy, and splenectomy. Complete deficiency of the vWF-cleaving protease was established during the first episode of TTP. The ensuing normalization of the platelet count was associated with the appearance of the protease activity. Three months after remission from the initial TTP event, the vWF-cleaving protease again disappeared and the platelet count gradually decreased. Relapses of severe thrombocytopenia occurred 7 and 11 months after the first acute episode of TTP. Deficient protease activity was associated with the presence in the patient plasma of an inhibitor that was found to be an IgG. Plasma exchange/infusion was followed by a temporary increase in the antibody titer, whereas treatment with vincristine led to a recovery of the platelet count without affecting the inhibitor concentration. Splenectomy and corticosteroid treatment resulted in disappearance of the autoantibody and normalization of the protease activity and of the platelet count. Our data suggest that the thrombocytopenia in this patient with TTP was associated with a lack of the vWF-cleaving protease activity depleted by an autoimmune mechanism. This case, together with our previously reported patients, leads us to conclude that acquired as well as constitutional deficiency of the vWF-cleaving protease may predispose to TTP.

Publication types

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

MeSH terms

  • ADAM Proteins
  • ADAMTS13 Protein
  • Adrenal Cortex Hormones / therapeutic use
  • Adult
  • Humans
  • Male
  • Metalloendopeptidases / deficiency*
  • Plasma Exchange
  • Platelet Count
  • Purpura, Thrombotic Thrombocytopenic / blood*
  • Purpura, Thrombotic Thrombocytopenic / physiopathology
  • Purpura, Thrombotic Thrombocytopenic / therapy
  • Recurrence
  • Splenectomy
  • Vincristine / therapeutic use
  • von Willebrand Factor / metabolism*

Substances

  • Adrenal Cortex Hormones
  • von Willebrand Factor
  • Vincristine
  • ADAM Proteins
  • Metalloendopeptidases
  • ADAMTS13 Protein
  • ADAMTS13 protein, human