Topic
Thrombophilia
About: Thrombophilia is a research topic. Over the lifetime, 4846 publications have been published within this topic receiving 145903 citations. The topic is also known as: Thrombophilia (disorder) & hypercoagulability state (finding).
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TL;DR: It is demonstrated that the phenotype of APC resistance is associated with hetero-zygosity or homozygosity for a single point mutation in the factor V gene which predicts the synthesis of a factor V molecule that is not properly inactivated by APC.
Abstract: Activated protein C (APC) is a serine protease with potent anticoagulant properties, which is formed in blood on the endothelium from an inactive precursor During normal haemostasis, APC limits clot formation by proteolytic inactivation of factors Va and VIIIa (ref 2) To do this efficiently the enzyme needs a nonenzymatic cofactor, protein S (ref 3) Recently it was found that the anticoagulant response to APC (APC resistance) was very weak in the plasma of 21% of unselected consecutive patients with thrombosis and about 50% of selected patients with a personal or family history of thrombosis; moreover, 5% of healthy individuals show APC resistance, which is associated with a sevenfold increase in the risk for deep vein thrombosis Here we demonstrate that the phenotype of APC resistance is associated with heterozygosity or homozygosity for a single point mutation in the factor V gene (at nucleotide position 1,691, G-->A substitution) which predicts the synthesis of a factor V molecule (FV Q506, or FV Leiden) that is not properly inactivated by APC The allelic frequency of the mutation in the Dutch population is approximately 2% and is at least tenfold higher than that of all other known genetic risk factors for thrombosis (protein C (ref 8), protein S (ref 9), antithrombin10 deficiency) together
3,895 citations
TL;DR: The findings reinforce the recommendation to strictly apply pharmacological thrombosis prophylaxis in all COVID-19 patients admitted to the ICU, and are strongly suggestive of increasing the prophYLaxis towards high-prophylactic doses, even in the absence of randomized evidence.
3,886 citations
TL;DR: An association was found between the presence of the 20210 A allele and elevated prothrombin levels and Elevated pro thirdrombin itself also was found to be a risk factor for venous thrombosis.
3,030 citations
TL;DR: It is concluded that the poor response to APC is the most important hereditary cause of venous thrombosis, and its high prevalence in a series of unselected patients will make testing of all thromBosis patients for this abnormality worth while.
1,258 citations
TL;DR: In this article, the authors focused on the management of VTE and thrombophilia as well as the use of antithrombotic agents during pregnancy. But they did not consider the risk of pregnancy complications.
1,098 citations