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Inherited coagulopathies and pulmonary embolism

Sarah Medrek, Zeenat Safdar
Chronic thromboembolic pulmonary hypertension (CTEPH) occurs when thromboemboli travel to the pulmonary vasculature, fail to resolve, and cause elevated pulmonary arterial pressure. Untreated, this disease leads to progressive right heart failure and death. It develops in approximately 1% to 5% of patients who suffer an acute pulmonary embolism (PE) and has an overall incidence of 3 to 30 per million in the general population. While it is not entirely evident why most but not all people are able to clear this clot burden, there are known risk factors for the development of CTEPH...
October 2016: Methodist DeBakey Cardiovascular Journal
Alexandros Makis, Antonis Kattamis, Vassilios Grammeniatis, Polyxeni Sihlimiri, Haralambos Kotsonis, Andreas Iliadis, Antigone Siamopoulou, Nikolaos Chaliasos
Diamond-Blackfan anemia (DBA) is a rare, congenital, pure red blood cell aplasia owing to gene defects affecting the function of ribosomal proteins, essential for erythroid maturation. Iron overload is a serious complication of chronic transfusions, which may lead to cardiac toxicity and endothelial damage. We report a case of pulmonary embolism, observed after viper bite in a transfusion-dependent child with DBA without known inherited thrombophilic factors. Embolic events are uncommon after viper bites, which they usually cause consumption coagulopathy, resulting in hypocoagulable state...
January 2011: Journal of Pediatric Hematology/oncology
Jeff Gardner
Factor V Leiden (FVL) is an autosomal co-dominantly inherited Arg506-->Gly substitution of the activated protein C cleavage site affecting 5% of the Caucasian population. FVL results in impaired anticoagulant function without procoagulant modification. Heterozygotes experience a seven-fold increase in thrombotic events, whereas homozygotes may incur a 50 to 100 fold increase. Even though patients are at increased risk for deep venous thrombi, they experience a smaller risk of pulmonary embolism compared to individuals affected by other coagulopathies...
2003: Clinical Laboratory Science: Journal of the American Society for Medical Technology
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