FAMILIAL THROMBOPHILIA: HOMOZYGOUS MUTATION OF FACTOR V LEIDEN
DOI:
https://doi.org/10.47820/recima21.v4i8.3822Keywords:
thrombophilia, homozygosis, thromboembolism, Factor V Leiden , mutationAbstract
Venous Thromboembolism represents a serious public health problem worldwide, represented by Deep Vein Thrombosis (DVT) and Pulmonary Thromboembolism (PTE). This is a multifactorial disease, caused by factors acquired from the environment and others intrinsic to the individual. Among these factors, deficiencies in coagulation factors, platelet anomalies, vascular diseases and changes in coagulation cascade inhibitors can be highlighted. Regarding these causes, one of the main factors that lead to thrombosis is the mutation in the genes that express Factor V Leiden (FVL). The Leiden genetic mutation has a dominant inheritance and the mutated gene in heterozygosity for FVL increases the risk of thrombosis by up to five times more compared to a person without mutation, whereas homozygosity (when both alleles are mutated) increases the chances of thrombosis from fifty to a hundred times.
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