Thrombotic thrombocytopenic purpura.

Détails

ID Serval
serval:BIB_5585D8E2DC42
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Thrombotic thrombocytopenic purpura.
Périodique
Journal of Thrombosis and Haemostasis
Auteur⸱e⸱s
Lämmle B., Kremer Hovinga J.A., Alberio L.
ISSN
1538-7933 (Print)
ISSN-L
1538-7836
Statut éditorial
Publié
Date de publication
2005
Peer-reviewed
Oui
Volume
3
Numéro
8
Pages
1663-1675
Langue
anglais
Notes
Publication types: Historical Article ; Journal Article ; Research Support, Non-U.S. Gov't ; Review Publication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
10/02/2015 12:14
Dernière modification de la notice
20/08/2019 15:10
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