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Factor V Leiden is the most common hereditary hypercoagulability (prone to clotting) disorder amongst ethnic Europeans. [ 3 ] [ 4 ] [ 5 ] It is named after the Dutch city of Leiden , where it was first identified in 1994 by Rogier Maria Bertina under the direction of (and in the laboratory of) Pieter Hendrik Reitsma. [ 6 ]
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 ...
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 ...
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]
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 and/or S deficiency: congenital; associated with Warfarin necrosis [23] Antiphospholipid antibody syndrome: altered coagulation [23] Factor V Leiden defect: altered coagulation [23] Prothrombin G20210A defect: altered coagulation [23] Elevated PAI-1: inhibits physiological breakdown of blood clots [26] Hyperhomocysteinemia: altered ...
The last category, alterations in the constitution of blood, [6] has numerous possible risk factors such as hyperviscosity, coagulation factor V Leiden mutation, coagulation factor II G2021A mutation, deficiency of antithrombin III, protein C or S deficiency, nephrotic syndrome, changes after severe trauma or burn, cancer, late pregnancy and ...
Thrombophilia (including inherited conditions such as factor V Leiden deficiency, protein C or S deficiency, or antiphospholipid antibody syndrome) is another common cause. [3] Nearly one-third of patients have a myeloproliferative disorder (e.g. polycythemia vera [ 6 ] or primary thrombocytosis), most commonly due to a Janus kinase 2 (JAK2 ...
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