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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.
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.
Heterozygous factor V Leiden is present in approximately 5% of the white population in the United States and homozygous factor V Leiden is found less than 1% of this population. [27] Factor V Leiden is much more common in individuals of Northern European descent and in some Middle Eastern populations.
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.
Heterozygous for factor V Leiden mutation; Heterozygous for factor II mutation; Overweight, in this case defined as a BMI > 28 at early pregnancy [9] Caesarean section; DVT heredity in a first-degree relative; Age > 40 years; Pre-eclampsia; Hyperhomocysteinemia; 2 points Intermediate risk factors: Protein S or protein C deficiency
The words homozygous, heterozygous, and hemizygous are used to describe the genotype of a diploid organism at a single locus on the DNA. Homozygous describes a genotype consisting of two identical alleles at a given locus, heterozygous describes a genotype consisting of two different alleles at a locus, hemizygous describes a genotype consisting of only a single copy of a particular gene in an ...
APC resistance is the inability of protein C to cleave Factor Va and/or Factor VIIIa, which allows for longer duration of thrombin generation and may lead to a hypercoagulable state. This may be hereditary or acquired. [4] The best known and most common hereditary form is Factor V Leiden, which is responsible for more than 95% of cases. [5]
Heterozygous protein C deficiency occurs in 0.14–0.50% of the general population. [13] [14] Based on an estimated carrier rate of 0.2%, a homozygous or compound heterozygous protein C deficiency incidence of 1 per 4 million births could be predicted, although far fewer living patients have been identified. [6]