Abstract:
:Congenital thrombotic thrombocytopenic purpura (TTP) or Upshaw-Schulman syndrome is caused by homozygous or compound heterozygous mutations in the ADAMTS-13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) gene. We investigated 30 patients with congenital TTP and analyzed clinical data and underlying ADAMTS-13 mutations. All patients showed virtually no ADAMTS-13 activity in plasma. Individual disease burden ranged from mild courses with rare episodes of mild thrombocytopenia to severe courses with chronic kidney disease and central nervous system (CNS) lesions. Two patients died due to complications of TTP. If initiated in a timely manner, plasma transfusions offer a reliable treatment to prevent organ damage. We identified 30 different causative mutations in the ADAMTS-13 gene. Our data do not support the idea of a tight correlation between ADAMTS-13 genotype and severity of disease. The type and magnitude of exogenous triggers for acute bouts of TTP as well as endogenous individual factors participating in the inflammatory response likely represent the foremost determinants of individual clinical courses. Future developments should aim at improving early diagnosis of TTP. To improve feasibility of prophylaxis and treatment of congenital TTP, recombinant ADAMTS-13 therapeutics are highly anticipated.
journal_name
Semin Thromb Hemostjournal_title
Seminars in thrombosis and hemostasisauthors
Hassenpflug WA,Budde U,Schneppenheim S,Schneppenheim Rdoi
10.1055/s-0034-1376152subject
Has Abstractpub_date
2014-06-01 00:00:00pages
487-92issue
4eissn
0094-6176issn
1098-9064journal_volume
40pub_type
杂志文章abstract::Despite numerous past and ongoing efforts, there remains significant variation in results from assays for the major antiphospholipid antibodies (aPL), namely anticardiolipin (aCL), anti-beta2 glycoprotein I (anti-beta2GPI), and lupus anticoagulant (LA). There is therefore a need to produce comprehensive guidelines on ...
journal_title:Seminars in thrombosis and hemostasis
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journal_title:Seminars in thrombosis and hemostasis
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journal_title:Seminars in thrombosis and hemostasis
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journal_title:Seminars in thrombosis and hemostasis
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pub_type: 杂志文章,评审
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journal_title:Seminars in thrombosis and hemostasis
pub_type: 杂志文章,评审
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journal_title:Seminars in thrombosis and hemostasis
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