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Factor V Leiden (rs6025 or F5 p.R506Q [1]) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability).
14067 Ensembl ENSG00000198734 ENSMUSG00000026579 UniProt P12259 O88783 RefSeq (mRNA) NM_000130 NM_007976 RefSeq (protein) NP_000121 NP_032002 Location (UCSC) Chr 1: 169.51 – 169.59 Mb Chr 1: 163.98 – 164.05 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in ...
However, people with homozygous factor V Leiden, and people with heterozygous factor V Leiden who have an additional thrombophilic condition (e.g., antithrombin deficiency, protein C deficiency, or protein S deficiency), should be considered for lifelong oral anticoagulation therapy. [17]
Recurrent miscarriage is an indication for thrombophilia screening, particularly antiphospholipid antibodies (anti-cardiolipin IgG and IgM, as well as lupus anticoagulant), factor V Leiden and prothrombin mutation, activated protein C resistance and a general assessment of coagulation through an investigation known as thromboelastography. [11]
Anticoagulant-induced skin necrosis Right leg affected by warfarin necrosis. Warfarin-induced skin necrosis is a condition in which skin and subcutaneous tissue necrosis (tissue death) occurs due to acquired protein C deficiency following treatment with anti-vitamin K anticoagulants ( 4-hydroxycoumarins , such as warfarin ).
The duration of anticoagulation therapy (whether it will last 4 to 6 weeks, [5] 6 to 12 weeks, 3 to 6 months, [19] or indefinitely) is a key factor in clinical decision making. [52] When proximal DVT is provoked by surgery or trauma a 3-month course of anticoagulation is standard. [ 19 ]
In factor V Leiden, a G1691A nucleotide replacement results in an R506Q amino acid mutation. Factor V Leiden increases the risk of venous thrombosis by two known mechanisms. First, activated protein C normally inactivates factor Va by cleaving the cofactor at Arg 306, Arg 506, and Arg 679. [24] The factor V Leiden mutation at Arg 506 renders ...
[1] [5] This ratio is inversely related to the degree of APC resistance. [7] The ETP-based APC resistance test involves the addition of APC to a thrombin generation assay (TGA). [5] This results in an inhibition of thrombin generation as measured by reduction of the endogenous thrombin potential (ETP; area under the thrombin generation curve). [5]
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