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A compound heterozygous mutation causes congenital thrombotic thrombocytopenic purpura: a case report.
Front Med (Lausanne)
January 2025
Department of Hematology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
Congenital thrombotic thrombocytopenic purpura (cTTP) is a thrombotic microangiopathy (TMA) characterized by severe hereditary ADAMTS13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) deficiency caused by mutations. This rare autosomal recessive genetic disorder is often misdiagnosed as immune thrombocytopenia (ITP) or hemolytic uremic syndrome (HUS). Here, we report a 21-year-old male cTTP patient with a compound heterozygous mutation.
View Article and Find Full Text PDFThrombotic Thrombocytopenic Purpura presenting as a Thunderclap Headache!
Am J Med
January 2025
Division of Advanced Internal Medicine, National University Hospital, Singapore.
A 35-year-old male with a history of hypertension presented with a thunderclap headache. Laboratory tests revealed isolated mild thrombocytopenia and plain brain imaging was normal. Subsequently he developed chest pain and breathlessness, accompanied with an acute kidney injury, elevated troponins and worsening thrombocytopenia.
View Article and Find Full Text PDFBackground: When haemolytic anaemia, thrombocytopenia and renal failure are present, a thrombotic microangiopathic (TMA) condition should be suspected. We describe the various differential diagnoses of primary TMA syndromes, their clinical findings, clinical workup and treatment.
Case Presentation: A previously healthy man in his fifties was hospitalised with anaemia, thrombocytopenia, bilirubinaemia and acute renal failure.
Microangiopathic Hemolytic Anemia as the Initial Presentation of Metastatic Signet-Ring Cell Carcinoma of the Colon: A Case Report.
Cureus
December 2024
Internal Medicine, Hurley Medical Center, Flint, USA.
Microangiopathic hemolytic anemia (MAHA) is a condition characterized by intravascular fragmentation of red blood cells, leading to the characteristic finding of schistocytes on a peripheral blood smear. The differential diagnoses of MAHA include thrombotic thrombocytopenic purpura (TTP), hemolytic-uremic syndrome (HUS), disseminated intravascular coagulation (DIC), idiopathic thrombocytopenic purpura (ITP), infections, malignancies, and solid organ transplantation. The commonly associated malignancies with MAHA are gastric, breast, prostate, lung, and lymphoma.
View Article and Find Full Text PDFCharacterization of bleeding in thrombotic thrombocytopenic purpura in the precaplacizumab era: a retrospective nationwide analysis.
Res Pract Thromb Haemost
January 2025
Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Background: The addition of caplacizumab to immune thrombotic thrombocytopenia (iTTP) treatment options has led to a renewed interest in characterizing the epidemiology and risk factors for bleeding in iTTP. Limited data exist on the bleeding risk in iTTP due to systemic underreporting in earlier cohorts.
Objectives: To describe the incidence, patterns, and predictors of bleeding in hospitalized iTTP patients independent of caplacizumab use.
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