Congenital and acquired ADAMTS13 deficiency: Two mechanisms, one patient

Lucia Masini, B Ferrari, A Cairo, S Pontiggia, I Mancini, F Peyvandi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

3 Citazioni (Scopus)

Abstract

Thrombotic thrombocytopenic purpura (TTP) is a life-threatening microangiopathy with a heterogeneous and largely unpredictable course. It is caused by ADAMTS13 deficiency, that can be either congenital or due to anti-ADAMTS13 autoantibodies development. ADAMTS13 deficiency is necessary but not always sufficient to cause acute clinical manifestations and trigger factors may be needed. We report the case of a woman diagnosed with congenital TTP in her adulthood, presenting with anti-ADAMTS13 autoantibodies in acute phase during ticlopidine consumption. Noteworthy, the two ADAMTS13 mutations identified in this patient are novel: one is a splice-site mutation located in intron 11 (c.1308+2_5delTAGG) and the other is a point missense mutation in exon 29 (c.4184T>C leading to p.Leu1395Pro substitution). Since congenital TTP is an extremely rare disease and drug-induced TTP is an uncommon side effect of treatment with ticlopidine, the simultaneous occurrence of both mechanisms of disease in one patient is exceptional. This case represents TTP as a multifactorial disease, with ADAMTS13 genetic abnormality and environmental exposures acting together in determining individual clinical phenotype. J. Clin. Apheresis 30:252-256, 2015. (c) 2014 Wiley Periodicals, Inc.
Lingua originaleEnglish
pagine (da-a)252-256
Numero di pagine5
RivistaJournal of Clinical Apheresis
Volume30
Stato di pubblicazionePubblicato - 2015

Keywords

  • ADAMTS13
  • congenital
  • mutation
  • thrombotic thrombocytopenic purpura
  • ticlopidine

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