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Pathophysiology of factor V Leiden gene mutation. Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C.
The minor ("type 2") thrombophilias are much more common. Factor V Leiden is present in 5% of the population of Northern European descent, but much rarer in those of Asian or African extraction. In people with thrombosis, 10% have factor V Leiden. In those who are referred for thrombophilia testing, 30–50% have the defect.
Deficiencies in the anticoagulants Protein C and Protein S further increase the risk five- to tenfold. [2] Behind non-O blood type [7] and factor V Leiden, prothrombin G20210A is one of the most common genetic risk factors for venous thromboembolism. [4] Increased production of prothrombin heightens the risk of blood clotting.
An important non-genetic risk factor is the use of estrogen-containing forms of hormonal contraception, which is implicated in 22% of cases of Budd–Chiari syndrome. [2] Other less common risk factors include systemic diseases such as aspergillosis , Behçet's disease , connective tissue disease , mastocytosis , inflammatory bowel disease HIV ...
VTE has a strong genetic component, accounting for approximately 50 to 60% of the variability in VTE rates. [4] Genetic factors include non-O blood type, deficiencies of antithrombin, protein C, and protein S and the mutations of factor V Leiden and prothrombin G20210A. In total, dozens of genetic risk factors have been identified. [4] [14]
Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in coagulation, encoded, in humans, by F5 gene. [5] In contrast to most other coagulation factors, it is not enzymatically active but functions as a cofactor . [ 5 ]
As a San Antonio, Texas-based swimming coach, 65-year-old Ingraham continues to crush her personal goals. She says that at 63, she swam in a four-day staged open water swim, without a wetsuit, in ...
[2] [5] [4] [13] [14] However, the aPTT-based APC resistance test is much less sensitive to the procoagulatory effects of estrogens than is the ETP-based test. [ 13 ] [ 14 ] [ 5 ] [ 4 ] [ 2 ] [ 15 ] Pregnancy [ 7 ] and ethinylestradiol (EE)-containing combined birth control pills increase APC resistance as measured by either the aPTT- or ETP ...