Thrombotic thrombocytopenic purpura.

Details

Serval ID
serval:BIB_5585D8E2DC42
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Title
Thrombotic thrombocytopenic purpura.
Journal
Journal of Thrombosis and Haemostasis
Author(s)
Lämmle B., Kremer Hovinga J.A., Alberio L.
ISSN
1538-7933 (Print)
ISSN-L
1538-7836
Publication state
Published
Issued date
2005
Peer-reviewed
Oui
Volume
3
Number
8
Pages
1663-1675
Language
english
Notes
Publication types: Historical Article ; Journal Article ; Research Support, Non-U.S. Gov't ; Review Publication Status: ppublish
Abstract
This overview summarizes the history of thrombotic thrombocytopenic purpura (TTP) from its initial recognition in 1924 as a most often fatal disease to the discovery in 1997 of ADAMTS-13 deficiency as a major risk factor for acute disease manifestation. The cloning of the metalloprotease, ADAMTS-13, an essential regulator of the extremely adhesive unusually large von Willebrand factor (VWF) multimers secreted by endothelial cells, as well as ADAMTS-13 structure and function are reviewed. The complex, initially devised assays for ADAMTS-13 activity and the possible limitations of static in vitro assays are described. A new, simple assay using a recombinant 73-amino acid VWF peptide as substrate will hopefully be useful. Hereditary TTP caused by homozygous or double heterozygous ADAMTS-13 mutations and the nature of the mutations so far identified are discussed. Recognition of this condition by clinicians is of utmost importance, because it can be easily treated and--if untreated--frequently results in death. Acquired TTP is often but not always associated with severe, autoantibody-mediated ADAMTS-13 deficiency. The pathogenesis of cases without severe deficiency of the VWF-cleaving protease remains unknown, affected patients cannot be distinguished clinically from those with severely decreased ADAMTS-13 activity. Survivors of acute TTP, especially those with autoantibody-induced ADAMTS-13 deficiency, are at a high risk for relapse, as are patients with hereditary TTP. Patients with thrombotic microangiopathies (TMA) associated with hematopoietic stem cell transplantation, neo-plasia and several drugs, usually have normal or only moderately reduced ADAMTS-13 activity, with the exception of ticlopidine-induced TMA. Diarrhea-positive-hemolytic uremic syndrome (D+ HUS), mainly occurring in children is due to enterohemorrhagic Escherichia coli infection, and cases with atypical, D- HUS may be associated with factor H abnormalities. Treatment of acquired idiopathic TTP involves plasma exchange with fresh frozen plasma (FFP), and probably immunosuppression with corticosteroids is indicated. We believe that, at present, patients without severe acquired ADAMTS-13 deficiency should be treated with plasma exchange as well, until better strategies become available. Constitutional TTP can be treated by simple FFP infusion that rapidly reverses acute disease and--given prophylactically every 2-3 weeks--prevents relapses. There remains a large research agenda to improve diagnosis of TMA, gain further insight into the pathophysiology of the various TMA and to improve and possibly tailor the management of affected patients.
Keywords
ADAM Proteins/deficiency, ADAM Proteins/metabolism, Animals, Hematology/history, Hemolytic-Uremic Syndrome/diagnosis, Hemolytic-Uremic Syndrome/epidemiology, Heterozygote, History, 20th Century, Homozygote, Humans, Models, Genetic, Peptides/chemistry, Purpura, Thrombotic Thrombocytopenic/diagnosis, Purpura, Thrombotic Thrombocytopenic/epidemiology, Risk Factors, von Willebrand Factor/metabolism
Pubmed
Web of science
Create date
10/02/2015 12:14
Last modification date
20/08/2019 15:10
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