Abstract
Pulmonary embolism (PE) and deep vein thrombosis (DVT) are associated with considerable morbidity and mortality, and for as much as twenty-five percent of PE patients the primary clinical appearance is unexpected death. Diagnosis of PE is based on clinical suspicious at first, but sometimes its diagnostics can be extremely difficult. Newly increased interest in an inherited thrombophilic states has been provoked by the discovery of several common inherited abnormalities, i.e. the prothrombin (PT) gene G20210A, Factor V Leiden (FVL) mutation (Arg506Gln), hyperhomocystenemia and homocysteiuria, Wein-Penzing defect, Sticky Platelet Syndrome (SPS), Quebec platelet disorder (QPD) and Sickle Cell Disease (SCD). PE incidence rates increase in recent years. The only explanation at this moment is increased awareness of PE, especially after any kind of surgery, immobile state or unexplained shorthness of breath.
Highlights
Venous thromboembolic disorders (VTE) are serious disorders with high morbidity and mortality rates
Increased interest in an inherited thrombophilic states has been provoked by the discovery of several common inherited abnormalities, i.e. the prothrombin (PT) gene G20210A, Factor V Leiden (FVL) mutation (Arg506Gln), hyperhomocystenemia and homocysteiuria, Wein-Penzing defect, Sticky Platelet Syndrome (SPS), Quebec platelet disorder (QPD) and Sickle Cell Disease (SCD)
People with hypercoagulability are at risk of developing thrombosis, especially venous thromboembolic disorders (VTE) including deep vein thrombosis (DVT) and pulmonary embolism (PE)
Summary
Venous thromboembolic disorders (VTE) are serious disorders with high morbidity and mortality rates. A healthy hemostatic process involves proteins called the plasma clotting factors (enzymes) These enzymes circulate in the blood in an inactive form, and get activated in case of vessel injury. The whole process is under careful supervision by three main proteins that circulate normally in the blood; namely protein C (and its active form activated protein C; APC), protein S (PS) and antithrombin (AT) These so-called “natural anticoagulants” monitor the processes of coagulation and fibrinolysis in order to prevent excessive clotting.Abnormalities in clotting factors may lead to bleeding problems (hemophilia), while abnormalities in the natural anticoagulants may lead to hypercoagulability and thrombosis, with certain exceptions in both [5,6,7,8]. More genetic and molecular studies may be needed to detect certain genetic loci or markers that may help in following the movement of carriers of FVL in the Mediterranean region to definitely determine the exact location where FVL might have occurred first
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