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Topic: Factor V Leiden mutation

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Factor V Leiden

Thrombophilia

Thrombus

Hereditary

Eurasian

	Factor V Leiden
		Factor V Leiden is characterized by a phenomenon called APCR where a genetic mutation in the factor V gene causes a change in the factor V protein making it resistant to inactivation by protein C. A detailed description of the clotting process is found on the clotting information web page.
		The result is that factor V Leiden is inactivated by activated protein C at a much slower rate (see Figure 3), thus leading to a thrombophilic (propensity to clot) state by having increased activity of factor V in the blood.
		The factor V Leiden mutation is relatively uncommon in the native populations of Asia, Africa and North America.
	www.med.uiuc.edu /hematology/PtFacV2.htm (893 words)

	Factor V Leiden Mutation and the Risks for Thromboembolic Disease: A Clinical Perspective -- Price and Ridker 127 (10): ...
		the prevalence of the factor V Leiden mutation was 14% [24].
		Gln mutation in the gene for factor V (factor V Leiden).
		Coexistence of hereditary homocystinuria and factor V Leiden-effect on thrombosis.
	www.acponline.org /journals/annals/15nov97/factorvl.htm (6372 words)

	Factor V Leiden thrombophilia - Genetics Home Reference
		Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
		Factor V Leiden is the name of a specific mutation that results in thrombophilia, or an increased tendency to form abnormal blood clots in blood vessels.
		People who have the factor V Leiden mutation are at somewhat higher than average risk for a type of clot that forms in veins, such as the deep veins of the legs (deep venous thrombosis), or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism).
	ghr.nlm.nih.gov /condition=factorvleidenthrombophilia (764 words)

	MSRGSNet/Genetic Drift/Venous Thrombosis and the Factor V (Leiden) Mutation
		This mutation is a single G to A base change that results in replacement of an arginine with a glutamine in the protein, destroying a cleavage site and thereby limiting factor V degradation by APC.
		Factor V mutation testing should be performed before prescription of oral contraceptives if there is a personal or family history of thrombosis.
		The factor V mutation test is accurate regardless of the clinical condition or medication of the patient.
	www.mostgene.org /gd/gdvol14b.htm (1355 words)

	Factor V Leiden and PT 20210: The Test
		Factor V Leiden and Prothrombin 20210 tests are ordered, along with other tests related to hypercoagulability, to help diagnose the cause of venous thromboembolism (VTE).
		PT 20210 and Factor V Leiden tests are ordered when a patient has a first venous thromboembolism (VTE) at a relatively young age (less than 50 years old), or in an unusual part of the body.
		It is caused by the heterozygous inheritance of a Factor V Leiden mutation and a heterozygous Factor V deficiency.
	www.labtestsonline.org /understanding/analytes/factor_v_and_pt20210/test.html (953 words)

	Consensus Statement on Factor V Leiden Mutation Testing (Site not responding. Last check: 2007-10-22)
		Although factor V Leiden is detected in an appreciable percentage of patients, opinions differ as to the usefulness of identifying the mutation and the clinical criteria for testing.
		Factor V Leiden testing is well established in mainstream medicine and is used by physicians from numerous specialties including hematology, internal medicine, primary care, and obstetrics.
		Factor V Arg306→Thr (factor V Cambridge) and factor V Arg306→Gly mutations in venous thrombotic disease.
	www.acmg.net /resources/policies/pol-009.asp (6596 words)

	Factor V Leiden Syndrome
		It is the result of a specific mutation in the gene for factor V which leads to increased risk for clots in the large veins of the legs (deep venous thrombosis), or clots that travel though the bloodstream and embed in the lungs (pulmonary embolism).
		Pregnancy: It is thought that Factor V Leiden increases the risk for recurrent fetal loss and has been associated with severe pre-eclampsia, unexplained intrauterine growth retardation, placental abruption, and stillbirth as well as maternal clotting during labor and in the postpartum period.
		Factor V. Leiden thrombophilia is characterized by a poor anticoagulant response to activated protein C (APC), and an increased risk of venous thromboembolish...
	ibis-birthdefects.org /start/f5fact.htm (521 words)

	Factor V Leiden
		The presence of Factor V (Leiden) is the most common cause of inherited thrombophilia, accounting for 20% to 50% of cases.
		Factor V (Leiden) has traditionally been first detected by an APTT screening test, in which exogenous activated protein C is added to the patient plasma prolonging the clotting time for individuals with normal, but not mutant, Factor V protein.
		Factor V (Leiden) is associated with an increased risk of venous thrombosis and is estimated to occur in 20-50% of patients with family history of thrombosis.
	www.repromedix.com /documents/FactorVLeiden.htm (1018 words)

	Factor V Leiden mutation = APC resistance
		The make-up of clotting factors may be changed such that they are no longer cleaved by their antagonists, or are cleaved only slowly.
		Factor V is thus rendered resistant to cleavage by APC.
		Women with factor V mutation without a history of thrombosis need only to be monitored during their pregnancy and be given heparin prophylactically during confinement.
	www.ismaap.org /index.php?id=61 (1324 words)

	Factor V Leiden / Thrombophilia Support Page - living with thrombophilia
		Factor V Leiden is the most common hereditary blood coagualtion disorder in the United States.
		Factor V Leiden increases the risk of venous thrombosis 3-8 fold for heterozygous (one damaged gene inherited) and substantially more, 30-140 fold, for homozygous (two damaged genes inherited) individuals.
		It is only a mild risk factor for clots, but together with other risk factors (such as oral contraceptives, surgery, trauma, high blood pressure, obesity, smoking, etc) or combined with other clotting disorders (like Factor V Leiden), the risk of clotting increases dramatically.
	www.fvleiden.org (373 words)

	Coincidence of Factor V Leiden Mutation and a Mutation in the Prothrombin Gene at Position 20210 in a Patient With ...
		Coincidence of Factor V Leiden Mutation and a Mutation in the Prothrombin Gene at Position 20210 in a Patient With Puerperal Cerebral Venous Thrombosis -- Weih et al.
		Leiden mutation in coincidence with a mutation in the prothrombin gene
		Factor V gene mutation is a risk factor for cerebral venous thrombosis.
	stroke.ahajournals.org /cgi/content/full/29/8/1739 (865 words)

	August 1995 - The Factor V Leiden Mutation
		Recently, studies have clearly shown that a mutation of clotting factor V is highly associated with thrombosis and may account for as much as 25% of all cases of venous thrombosis of unknown cause.
		The factor V mutation, named factor V Leiden after the site of its discovery, is due to a point mutation in the normal factor V molecule.
		This mutation renders the factor V molecule insensitive to the action of activated protein C, a natural anticoagulant.
	www.itxm.org /archive/tmu8-95.htm (715 words)

	GenID :: Factor V - Leiden
		One of the regulating factors of the coagulation system is Activated Protein C (APC), which is a serin protease influencing the coagulation process together with a cofactor by proteolytic inactivation of Factor Va and VIIIa, two components of the coagulation cascade.
		Factor Va is derived from the Factor V-Protein by cleavage, which in turn is mediated by Factor IIa.
		Prothrombin (Factor II) is the precursor of the active coagulation enzyme thrombin (Factor IIa), which has a key function in the regulation of the coagulation process (among others the processing of Factor V to Factor Va).
	www.aid-diagnostika.com /english/kits/GenID/rdb_2005e_factor5.htm (730 words)

	Kimball Genetics - Factor V Leiden DNA Test
		The factor V Leiden mutation is the most common genetic risk factor for venous thrombosis, a serious health problem affecting approximately 1 in 1000 people and leading to 50,000 deaths annually in this country.
		This mutation is involved in 20-40% of venous thrombosis cases and is present in 5% of the general population.
		The Factor V Leiden DNA Test should be included in the evaluation of all patients with thrombosis or a family history of this condition.
	www.kimballgenetics.com /tests-factor_v.html (379 words)

	Factor V Leiden (R506Q) - DNA Analysis
		These factors include inherited resistance to activated protein C (APC) as well as deficiencies in antithrombin III, protein C and protein S. APC resistance is a major basis for familial thrombosis and is common in the general population (2-5%).
		APC resistance is frequently associated with factor V Leiden, a point mutation in the factor V gene.
		Analysis for the Factor V Leiden R506Q mutation is offered as a specific DNA test, or as part of a Thrombophilia panel which also includes the Prothrombin (Factor II) 20210G-A mutation and the MTHFR 677 C-T variant.
	www.bcm.edu /geneticlabs/tests/dna/factorvleiden.html (317 words)

	Factor II (Prothrombin), DNA Analysis
		A point mutation in the Factor II (prothrombin) gene is the second most common cause of inherited thrombosis (after Factor V Leiden) and accounts for up to 20% of inherited thrombophilia.
		The incidence of this mutation in the Caucasian population is 1% to 2% and in African-Americans it is 0.1%.
		The mutation, substitution of a guanine with an adenine at nucleotide 20210, lies outside the coding region of the Factor II gene.
	www.labcorp.com /datasets/labcorp/html/chapter/mono/mg001100.htm (757 words)

	Factor V Leiden Mutation Analysis
		The mutation is characterized by a guanine to adenine substitution at nucleotide 1691 in exon 10 of the Factor V gene that replaces an arginine at codon 506 with a glutamine.
		It is designated as FV R506Q (Leiden), and confers resistance to inactivation by activated protein C. As a result, Factor V persists in the circulation, leading to a mild hypercoagulable state.
		Other risk factors to be considered in the workup for venous thrombosis include the G20210A mutation in the factor II (prothrombin) gene, mutations in the MTHFR gene, protein S and C deficiency, and antithrombin deficiencies.
	www.labcorp.com /datasets/labcorp/html/chapter/mono/mg001200.htm (770 words)

	apc resistance -- apc resistance (Site not responding. Last check: 2007-10-22)
		Testing The diagnosis of factor V Leiden thrombophilia is made either by the APC resistance assay as a coagulation screening test or by DNA analysis of the factor V gene (F5).
		Factor V Leiden -- Ornstein and Cushman 107 (15): 94 -- Circulation
		Factor V Leiden is also known as activated protein C resistance, or APC resistance.
	www.fifapc.com /apcresistance (3258 words)

	The Prothrombin G20210A Mutation and Factor V Leiden Mutation in Patients With Cerebrovascular Disease -- Lalouschek et ...
		The Prothrombin G20210A Mutation and Factor V Leiden Mutation in Patients With Cerebrovascular Disease -- Lalouschek et al.
		The Prothrombin G20210A Mutation and Factor V Leiden Mutation in Patients With Cerebrovascular Disease
		We investigated the prevalence of the factor V Leiden mutation and the G20210A prothrombin mutation in 96 patients with transient
	www.bloodjournal.org /cgi/content/full/92/2/704 (1605 words)

	Factor V Leiden mutation -
		It is an autosomal dominant condition in which the coagulation factor has a mutation and cannot be destroyed by activated protein C (aPC).
		Suspicion of Factor V Leiden being the cause for any thrombotic event should be considered in any white patient below the age of 45, or in any person with a family history of thrombosis.
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
	www.medicalgeo.com /Med-Diseases-F---G/Factor-V-Leiden-mutation.html (406 words)

	Detection of the Factor V Leiden Mutation by Direct Allele-specific Hybridization of PCR Amplicons to Photoimmobilized ...
		in the sense strand of exon 10 of the factor V gene (6)(7)(8).
		Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994;369:64-67.
		Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men.
	www.clinchem.org /cgi/content/full/45/11/1898 (4235 words)

	Factor V Leiden Mutation Analysis
		Hereditary disorders predisposing to thrombosis include the factor V Leiden genetic mutation, the factor II (prothrombin) gene G to A 20210 mutation, protein C deficiency, protein S deficiency, antithrombin III deficiency, and dysfibrinogenemia.
		Of these, the factor V Leiden mutation is by far the most common, accounting for up to 40% of all cases, and up to 75% of cases of recurrent thrombosis.
		Clinical criteria for thrombophilia includes venous thrombosis or thromboembolism which occurs before the age of 45 or is recurrent, a family history of venous thrombosis or thromboembolism, or a history of thrombosis in an unusual anatomic location, or recurrent superficial thrombophlebitis.
	www.hpath.com /HPAServices/MolecPath/FactorV.htm (279 words)

	Factor V Leiden Mutation (Site not responding. Last check: 2007-10-22)
		Centrifuge blue-stopper tube within 1 hour of collection, separate plasma and test or quick-freeze at -70°C. If follow-up factor V Leiden mutation test is indicated, the lavender-stopper tube may be refrigerated up to 72 hours before shipping.
		APC resistance is a thrombotic risk factor* caused by the factor V Leiden mutation that is present in 3 to 8% of Caucasians.
		Factor V Leiden mutation confers a 2 to 8-fold increased risk of venous thrombosis.
	peir.path.uab.edu /coag/article_56.shtml (150 words)

	factor V Leiden, Primary Sclerosing Cholangitis Literature
		Haslam N, Standen GR, Probert CS 1999 An investigation of the association of the factor V Leiden mutation and inflammatory bowel disease.
		Papa A, De Stefano V, Gasbarrini A, Chiusolo P, Cianci R, Casorelli I, Paciaroni K, Cammarota G, Leone G, Gasbarrini G 2000 Prevalence of factor V Leiden and the G20210A prothrombin-gene mutation in inflammatory bowel disease.
		Zauber NP, Sabbath-Solitare M, Rajoria G, Mogan G 1998 Factor V Leiden mutation is not increased in patients with inflammatory bowel disease.
	www.psc-literature.org /FVL.htm (1586 words)

	The effect of factor V Leiden carriage on maternal and fetal health -- Bloomenthal et al. 167 (1): 48 -- Canadian ...
		Factor V Leiden (FVL) is a mutation in the factor V molecule, rendering it resistant to cleavage by activated protein C. Factor V remains a procoagulant and thus predisposes the carrier to clot formation.
		Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium.
		Factor V Leiden, C>T MTHFR polymorphism and genetic susceptibility to preeclampsia.
	www.cmaj.ca /cgi/content/full/167/1/48 (3636 words)

	Morrissey Lab
		Factor VII activation, apolipoprotein A-I and reverse cholesterol transport: Possible relevance for postprandial lipaemia.
		The influence exerted by a restricted phospholipid microenvironment on the expression of tissue factor activity at the cell plasma membrane surface.
		Epidemiologic and genetic associations of activated factor XII concentration with factor VII activity, thrombin activity, and risk of coronary heart disease in men.
	www.tf7.org /pubs.htm (799 words)

	Factor V Leiden Mutation (FV:Q506)
		Furthermore, this polymorphism is not infrequently encountered in patients with an additional hypercoagulable state, especially factor V Leiden and/or thermolabile polymorphism in the methylenetetrahydrofolate reductase (MTHFR).
		Patients with the prothrombin (20210) mutation are at increased risk of thrombosis when exposed to other risk factors such as: (1) smoking, (2) pregnancy, (3) Obesity, (4) Oral Contraceptives, and (4) Immobility.
		Note: It is recommended that a separate plasma sample be sent to correlate the PTG 20210 DNA analysis with a Factor II (functional or antigenic) level obtained at the same collection time.
	pathology.mc.duke.edu /coag/PTGlflyer2.html (566 words)

	Factor V Leiden Mutation (FV:Q506)
		Consequently, patients with elevated plasma homocysteine levels should be evaluated for the thermolabile MTHFR polymorphism, since this information is useful in determining an individual patient’s therapeutic regimen as well as for genetic counseling of the patient and their family members.
		The increased risk of thrombophilia associated with cardiovascular disease in homozygous methylenetetrahydrofolate reductase mutation patients is approximately 3-fold.
		Definition and confirmation of the MTHFR mutation is necessary for genetic counseling of patients for themselves and family members.
	pathology.mc.duke.edu /coag/MTHFRlflyer2.html (482 words)

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