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Coexistence of Vascular Ehlers-Danlos Syndrome and Sticky Platelet Syndrome: A Lethal Combination in A Young Patient with Thrombophilia and Haemorrhagic Diathesis.
Eur J Case Rep Intern Med
November 2024
Department of Internal Medicine, Hospital Universitario Virgen del Rocío, Seville, Spain.
Background: The coexistence of hypercoagulability and bleeding diathesis in the same patient represents a potentially lethal combination due to its complex management. Vascular Ehlers-Danlos syndrome (vEDS) and sticky platelet syndrome (SPS) are classified as rare diseases due to their low prevalence. vEDS is associated with bleeding tendencies caused by vascular wall fragility, while SPS is characterized by atypical arterial and venous thrombosis.
View Article and Find Full Text PDFHypercoagulability in hemoglobinopathies: Decoding the thrombotic threat.
Am J Hematol
January 2025
Department of Medicine, University of Verona, and Azienda Ospedaliera Universitaria Verona, Verona, Italy.
Article Synopsis
- β-thalassemia and sickle cell disease are linked to a hypercoagulable state, increasing the risk of thrombosis and organ complications.
- Factors like free heme, inflammation, and splenectomy, alongside the role of red blood cells, contribute to this thrombotic risk.
- Understanding these mechanisms can help improve prevention and treatment strategies for managing thrombosis in patients with these blood disorders.
Microangiopathic thrombocytopenia caused by vitamin B12 deficiency responding to plasma exchange.
Br J Haematol
October 2024
Department of Medical Pathology and Laboratory Medicine, University of California Davis Medical Center, Sacramento, California, USA.
Article Synopsis
- A young African American female presented with symptoms of normocytic microangiopathic hemolytic anemia, elevated lactate dehydrogenase, and low platelet count, suggesting thrombotic thrombocytopenic purpura (TTP).
- After initial treatment with therapeutic plasma exchanges (TPE), she relapsed and was diagnosed with pernicious anemia, characterized by low vitamin B12 and megaloblastic bone marrow.
- Her condition improved after receiving intramuscular B12 and stopping TPE, highlighting the importance of recognizing vitamin B12 deficiency, which can mimic TTP symptoms.
A Compact Differential Dynamic Microscopy-based Device (cDDM): An Approach Tool for Early Detection of Hypercoagulable State in Transfusion-Dependent-β-Thalassemia Patients.
ACS Appl Bio Mater
July 2024
Department of Biochemistry, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
β-Thalassemia especially transfusion-dependent thalassemia (TDT) associates with a hypercoagulable state, which is the main cause of thromboembolic events (TEE). Plasma viscosity and rheological parameters could be essential markers for determining hypercoagulable state in β-thalassemia patients. The traditional methods for measuring viscosity are often limited by large sample volumes and are impractical for routine clinical monitoring.
View Article and Find Full Text PDFTwo cases of venous thromboembolism in siblings after splenectomy due to a novel PROC gene mutation.
Thromb J
March 2024
Department of Pediatric, Shenzhen Second People's Hospital, Shenzhen University 1st Affiliated Hospital, No.3002, Sungang West Road, Futian District, Shenzhen, Guangdong, Shenzhen, 518019, China.
Article Synopsis
- Venous thromboembolism (VTE) is a common condition influenced by various factors, with hereditary deficiencies in anticoagulant proteins like protein C being the most prevalent in the Chinese population.
- A case study from Shenzhen Second People's Hospital involved two siblings with VTE; the 12-year-old sister had a 53% PC activity and bilateral thrombosis, while her 10-year-old brother had a 40% PC activity and superficial venous thrombosis. They both had a history of thalassemia and had undergone splenectomy before their thrombosis episodes.
- The siblings were treated with warfarin, leading to symptom improvement, and genetic testing revealed their mother carried a heterozygous mutation in the
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