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- Title
Congenital and acquired ADAMTS13 deficiency: Two mechanisms, one patient.
- Authors
Ferrari, Barbara; Cairo, Andrea; Pontiggia, Silvia; Mancini, Ilaria; Masini, Luciano; Peyvandi, Flora
- 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. © 2014 Wiley Periodicals, Inc.
- Publication
Journal of Clinical Apheresis, 2015, Vol 30, Issue 4, p252
- ISSN
0733-2459
- Publication type
Article
- DOI
10.1002/jca.21366