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Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report.

ABSTRACT: Hereditary thrombotic thrombocytopenic purpura (TTP) is a genetic condition caused by mutations in ADAMTS13 gene, leading to very low levels of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type I domain 13) activity. It is a rare condition associated with multiple reported mutations. Here, we describe a case of hereditary TTP with a compound novel heterozygous mutation along with secondary focal segmental glomerulosclerosis. The patient responded clinically to plasma infusions with resolution of thrombocytopenia, stabilization of renal function, and control of blood pressures. Genetic analysis of the entire family helped in the characterization of the inheritance of this mutation. Our case illustrates the need for focused genetic analysis in a subset of patients presenting with features of TTP to decide the therapeutic plan and manage accordingly.

SUBMITTER: Yadav RK

PROVIDER: S-EPMC6668320 | biostudies-literature | 2019 Jul-Aug

REPOSITORIES: biostudies-literature

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Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report.

Yadav Raj K RK Ariga Kishore K KK Subbiah Arunkumar A Bagchi Soumita S Mahajan Sandeep S Bhowmik Dipankar D Agarwal Sanjay K SK

Indian journal of nephrology 20190701 4

Hereditary thrombotic thrombocytopenic purpura (TTP) is a genetic condition caused by mutations in <i>ADAMTS13</i> gene, leading to very low levels of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type I domain 13) activity. It is a rare condition associated with multiple reported mutations. Here, we describe a case of hereditary TTP with a compound novel heterozygous mutation along with secondary focal segmental glomerulosclerosis. The patient responded clinically to plasma in ...[more]

PMID: 31423067

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Hereditary thrombotic thrombocytopenic purpura: a case report.

Project description: Not available

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Post-partum Thrombotic Thrombocytopenic Purpura with Puerperal Sepsis- A Case Report

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Project description:Patients who are diagnosed with thrombotic thrombocytopenic purpura (TTP) during pregnancy are at increased risk of maternal and fetal complications including fetal demise. We present a case of a 32-year-old G3P0 (gravida 3, para 0) who presented at 20 weeks’ gestation with a new diagnosis of congenital TTP (cTTP) and fetal demise. Methods: We describe the pathophysiology of pregnancy complications in a patient with cTTP using platelet procoagulant membrane dynamics analysis and quantitative proteomic studies, compared to 4 pregnant patients with gestational hypertension, 4 pregnant patients with preeclampsia and 4 healthy pregnant controls. Results: The cTTP patient had increased P-selectin, tissue factor expression, annexin-V binding on platelets and neutrophils, and localized thrombin generation, suggestive of hypercoagulability. Among 15 proteins that were upregulated, S100A8 and S100A9 were distinctly overexpressed.Conclusions: There is platelet-neutrophil activation and interaction, platelet hypercoagulability and proinflammation in our case of cTTP with fetal demise.

2023-02-23 | PXD037898 | Pride

Tremor/Myoclonus Syndrome Associated with Thrombotic Thrombocytopenic Purpura: Case Report and Review of Literature.

Project description: Not available

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Pathophysiology of thrombotic thrombocytopenic purpura.

Project description:The discovery of a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, member 13 (ADAMTS13) revolutionized our approach to thrombotic thrombocytopenic purpura (TTP). Inherited or acquired ADAMTS13 deficiency allows the unrestrained growth of microthrombi that are composed of von Willebrand factor and platelets, which account for the thrombocytopenia, hemolytic anemia, schistocytes, and tissue injury that characterize TTP. Most patients with acquired TTP respond to a combination of plasma exchange and rituximab, but some die or acquire irreversible neurological deficits before they can respond, and relapses can occur unpredictably. However, knowledge of the pathophysiology of TTP has inspired new ways to prevent early deaths by targeting autoantibody production, replenishing ADAMTS13, and blocking microvascular thrombosis despite persistent ADAMTS13 deficiency. In addition, monitoring ADAMTS13 has the potential to identify patients who are at risk of relapse in time for preventive therapy.

| S-EPMC5606001 | biostudies-literature

Hypercoagulability and Inflammatory Markers in a Case of Congenital Thrombotic Thrombocytopenic Purpura Complicated by Fetal Demise.

Project description:BackgroundCongenital thrombotic thrombocytopenic purpura (cTTP) is a rare disorder caused by an inherited genetic deficiency of ADAMTS13 and affects less than one per million individuals. Patients who are diagnosed with TTP during pregnancy are at increased risk of maternal and fetal complications including fetal demise. We present a case of a 32-year-old G3P0 (gravida 3, para 0) who presented at 20 weeks gestation with a new diagnosis of congenital TTP (cTTP) and fetal demise.MethodsWe describe the pathophysiology of pregnancy complications in a patient with cTTP using platelet procoagulant membrane dynamics analysis and quantitative proteomic studies, compared to four pregnant patients with gestational hypertension, four pregnant patients with preeclampsia, and four healthy pregnant controls.ResultsThe cTTP patient had increased P-selectin, tissue factor expression, annexin-V binding on platelets and neutrophils, and localized thrombin generation, suggestive of hypercoagulability. Among 15 proteins that were upregulated, S100A8 and S100A9 were distinctly overexpressed.ConclusionsThere is platelet-neutrophil activation and interaction, platelet hypercoagulability, and proinflammation in our case of cTTP with fetal demise.

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