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Inherited coagulopathies and pulmonary embolism

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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