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.

Ferrari, B., Cairo, A., Pontiggia, S., Mancini, I., Masini, L., Peyvandi, F., Congenital and acquired ADAMTS13 deficiency: Two mechanisms, one patient, <<JOURNAL OF CLINICAL APHERESIS>>, 2015; 30 (4): 252-256. [doi:10.1002/jca.21366] [http://hdl.handle.net/10807/172032]

Congenital and acquired ADAMTS13 deficiency: Two mechanisms, one patient

Masini, Lucia;
2015

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.
2015
Inglese
Ferrari, B., Cairo, A., Pontiggia, S., Mancini, I., Masini, L., Peyvandi, F., Congenital and acquired ADAMTS13 deficiency: Two mechanisms, one patient, <<JOURNAL OF CLINICAL APHERESIS>>, 2015; 30 (4): 252-256. [doi:10.1002/jca.21366] [http://hdl.handle.net/10807/172032]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/172032
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