Inherited thrombotic thrombocytopenic purpura

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Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disorder characterized by thrombocytopenia and microangiopathic hemolytic anemia accompanied by variable neurological dysfunction, kidney failure, and fever. It is caused by severely reduced activity of the von Willebrand factor-cleaving protease ADAMTS13. Hereditary TTP, caused by ADAMTS13 gene mutations, is much less common.

Congenital or inherited TTP represents less than 5% of all cases of TTP and the annual incidence is estimated at less than 1/1,000,000. More than 80 different mutations have been identified in families with hereditary TTP.Most patients are carriers of compound heterozygous mutations. Only 15 mutations have been observed in homozygous form, including a homozygous deletion of nucleotides 2930–2935 in exon 23 of ADAMTS13. [1]

References

Creative Commons by small.svg  This article incorporates text by Romão de Souza et al. available under the CC BY 4.0 license.

  1. ↑ Romão de Souza, Valter; Beatriz Cavalcante de Oliveira, Ana; Maria Vanderlei, Ana; Queiroz da Mota Silveira Aroucha, Amanda; Pontes Duarte, Bruna; Nunes Machado, Aureli; Netto Chaer, Lívia; Wanderley de Barros Correia, Cláudia; da Conceição de Barros Correia, Maria (2018-01-22). "Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report". Journal of Medical Case Reports. 12 (1): 15. doi: 10.1186/s13256-017-1545-3 . ISSN   1752-1947. PMC   5778757 . PMID   29357939.
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