[Resistance to activated protein C. The most common cause of familial thrombophilia]. 1996

T B Larsen, and H B Ravn, and J F Lassen, and E D Lund, and I Brandslund
Klinisk kemisk afdeling, Vejle Sygehus.

Resistance to activated protein C (APC) is caused by the most prevalent single gene defect associated with thromboembolic disease so far described. The majority of cases are caused by a single point mutation in the Factor V gene, which predicts replacement of Arg506 in the APC-cleavage site with a Gln. APC resistance is found in 20-60% of patients with venous thrombosis and in 3-10% of the normal population among Caucasians. In its heterozygous state, the mutation is associated with a 5-10-fold increased risk of thrombosis. Homozygosity is associated with more severe APC resistance, and a higher risk of developing thrombosis. By the age of 33 years, 8% of normals, 20% of heterozygotes, and 40% of homozygotes have had manifestations of venous thrombosis. APC resistance has been described in 60% of women with thromboembolic complications during pregnancy and in approximately 30% of women with thromboembolic complications using oral contraceptives. Development of clinical episodes of thrombosis in patients with APC resistance is likely to occur on a multifactorial basis. Hypercoagulable states may result from multigene interactions, and prothrombotic insults in patients with an inherited predisposition may precipitate thrombotic complications. In this review we present and discuss results from the recent medical literature.

UI MeSH Term Description Entries
D008297 Male Males
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011486 Protein C A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation.
D005165 Factor V Heat- and storage-labile plasma glycoprotein which accelerates the conversion of prothrombin to thrombin in blood coagulation. Factor V accomplishes this by forming a complex with factor Xa, phospholipid, and calcium (prothrombinase complex). Deficiency of factor V leads to Owren's disease. Coagulation Factor V,Proaccelerin,AC Globulin,Blood Coagulation Factor V,Factor 5,Factor Five,Factor Pi,Factor V, Coagulation
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000925 Anticoagulants Agents that prevent BLOOD CLOTTING. Anticoagulant Agent,Anticoagulant Drug,Anticoagulant,Anticoagulant Agents,Anticoagulant Drugs,Anticoagulation Agents,Indirect Thrombin Inhibitors,Agent, Anticoagulant,Agents, Anticoagulant,Agents, Anticoagulation,Drug, Anticoagulant,Drugs, Anticoagulant,Inhibitors, Indirect Thrombin,Thrombin Inhibitors, Indirect
D012307 Risk Factors An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, based on epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. Health Correlates,Risk Factor Scores,Risk Scores,Social Risk Factors,Population at Risk,Populations at Risk,Correlates, Health,Factor, Risk,Factor, Social Risk,Factors, Social Risk,Risk Factor,Risk Factor Score,Risk Factor, Social,Risk Factors, Social,Risk Score,Score, Risk,Score, Risk Factor,Social Risk Factor
D013923 Thromboembolism Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream. Thromboembolisms
D017354 Point Mutation A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. Mutation, Point,Mutations, Point,Point Mutations

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