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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.
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 ]
Congenital factor X deficiency is also extremely rare, affecting an estimated 1 in 1,000,000. [23] A point mutation in the gene encoding factor V can lead to a hypercoagulability disorder called factor V Leiden. In factor V Leiden, a G1691A nucleotide replacement results in an R506Q amino acid mutation.
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.
A 2006 meta-analysis showed only a 1.3-fold increased risk for coronary disease. [6] 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]
As such, family history of VTE is a risk factor for a first VTE. [88] Factor V Leiden, which makes factor V resistant to inactivation by activated protein C, [88] mildly increases VTE risk by about three times. [14] [88] Deficiencies of three proteins that normally prevent blood from clotting—protein C, protein S, and antithrombin ...
Factor V Leiden is responsible for 8% of cases. [2] Other less common inherited disorders leading to the condition include factor II mutation (3%), protein C deficiency (5%), protein S deficiency (4%), and antithrombin III deficiency(1%). [2] [14] Budd–Chiari syndrome may be the presenting sign of these hypercoagulable disorders.
Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. [83] Protein S deficiency: Factor V Leiden: Thrombocytosis: Idiopathic thrombocytopenic purpura: D69.3: 6673: D016553 Idiopathic thrombocytopenic purpura (ITP) is the condition of having a low platelet count (thrombocytopenia) of no known cause . Recurrent ...