Hereditary thrombotic thrombocytopenic purpura: a case report

Borborema, Tarcísio S.; Diniz, S.A.; Lima, Joziele de Souza; Costa, Fernanda Faria; Murao, Mitiko; Campos, Márcia Kanadani

doi:10.1016/j.htct.2020.08.007

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2024

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“…FFP infusion at the volume of 10-15ml/Kg is recommended for prophylaxis once every 2-3 weeks [8,9] , as the ADAMTS13 half-life in plasma is 2-4 days [23] . For therapeutic need, duration relies on the recovery of platelet count and cease of hemolysis, which usually takes 1-3 days [24] . The exact volume of FFP and the duration of transfusion varies from clinical phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Hereditary thrombotic thrombocytopenic purpura mimicking idiopathic thrombocytopenic purpura was revealed by miscarriage——Novel Compound Heterozygous Mutations in hTTP

Zhou,

Wang,

Wang

et al. 2024

Preprint

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We report a case of early-onset hereditary thrombotic thrombocytopenic purpura in a 16-years old girl, who suffered from solely thrombocytopenia and was misdiagnosed as idiopathic thrombocytopenic purpura for years until two failed gestations finally revealed the underlying cause. Novel compound heterozygous mutations c.2865G>A:p.Trp955X and c.721delG:p.Gly241fs in ADAMTS13 gene were found and were predicted to be associated with the disease. She responded to plasma therapy but renal dysfunction may remain longstanding.

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Section: Discussionmentioning

confidence: 99%